GenePage ID	Gene Symbol	DOID - name(|)
478063	foxh1.2	DOID:0110881 - holoprosencephaly 1
478083	tbx1	DOID:11198 - DiGeorge syndrome|DOID:12583 - velocardiofacial syndrome|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot
478140	hba1	DOID:0110031 - hemoglobin H disease|DOID:0111363 - Heinz body anemia|DOID:0111631 - familial erythrocytosis 7|DOID:1099 - alpha thalassemia
478148	gdf9	DOID:0080871 - primary ovarian insufficiency 14
478155	c2	DOID:0060295 - complement component 2 deficiency|DOID:0110026 - age related macular degeneration 14
478164	gata2	DOID:0050908 - myelodysplastic syndrome|DOID:0111947 - immunodeficiency 21|DOID:9119 - acute myeloid leukemia
478174	slc5a1.2	DOID:4194 - glucose metabolism disease
478183	gdf2	DOID:1270 - hereditary hemorrhagic telangiectasia
478209	fzd4	DOID:0050535 - exudative vitreoretinopathy|DOID:0060282 - persistent hyperplastic primary vitreous|DOID:0111412 - exudative vitreoretinopathy 1
478219	suclg1	DOID:0080128 - mitochondrial DNA depletion syndrome 9
478245	wnt10a	DOID:0050591 - tooth agenesis|DOID:0111647 - Schopf-Schulz-Passarge syndrome
478264	tcf3	DOID:0081140 - agammaglobulinemia 8A
478287	slc24a4	DOID:0110055 - amelogenesis imperfecta type 3A|DOID:0110063 - amelogenesis imperfecta hypomaturation type 2A5
478293	rab28	DOID:0050572 - cone-rod dystrophy|DOID:0111024 - cone-rod dystrophy 18
478344	vax1	DOID:0111804 - syndromic microphthalmia 11
478354	fgg	DOID:2236 - congenital afibrinogenemia
478382	pygl	DOID:2754 - glycogen storage disease VI
478427	sfrp4	DOID:0080019 - metaphyseal dysplasia
478436	mapk8ip1	DOID:9352 - type 2 diabetes mellitus
478451	crx	DOID:0050572 - cone-rod dystrophy|DOID:0110333 - Leber congenital amaurosis 7|DOID:0111005 - cone-rod dystrophy 2|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
478543	foxe1	DOID:0050655 - Bamforth-Lazarus syndrome
478586	tgfbr1	DOID:0050466 - Loeys-Dietz syndrome|DOID:0060690 - autosomal dominant auditory neuropathy 1|DOID:5585 - Ferguson-Smith tumor
478628	tnni2	DOID:0050646 - distal arthrogryposis|DOID:0111600 - distal arthrogryposis type 2B1
478638	dact1	DOID:0050887 - Townes-Brocks syndrome
478662	prkcd	DOID:0110119 - autoimmune lymphoproliferative syndrome type 3|DOID:12177 - common variable immunodeficiency|DOID:6688 - autoimmune lymphoproliferative syndrome
478671	irs1	DOID:9352 - type 2 diabetes mellitus
478760	six3	DOID:0110872 - holoprosencephaly 2
478770	fga	DOID:0050636 - familial visceral amyloidosis|DOID:2236 - congenital afibrinogenemia
478797	polg	DOID:0080119 - mitochondrial DNA depletion syndrome 1|DOID:0080122 - Alpers-Huttenlocher syndrome|DOID:0080123 - mitochondrial DNA depletion syndrome 4b|DOID:0111276 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|DOID:0111521 - autosomal dominant progressive external ophthalmoplegia 1|DOID:0111522 - autosomal recessive progressive external ophthalmoplegia 1|DOID:1442 - Alpers syndrome
478806	fras1	DOID:0090001 - Fraser syndrome|DOID:0111405 - Fraser syndrome 1
478812	fzd6	DOID:0080079 - nonsyndromic congenital nail disorder 1|DOID:0080088 - nonsyndromic congenital nail disorder 10
478821	map2k1	DOID:0060233 - cardiofaciocutaneous syndrome|DOID:0060578 - Noonan syndrome 1|DOID:0111462 - cardiofaciocutaneous syndrome 3
478831	hoxc13	DOID:0111656 - ectodermal dysplasia 9
478849	acvr1	DOID:13374 - fibrodysplasia ossificans progressiva
478858	mycn	DOID:0060464 - Feingold syndrome|DOID:0080171 - esophageal atresia/tracheoesophageal fistula
478868	avp	DOID:12388 - neurohypophyseal diabetes insipidus
478880	c4a	DOID:0060297 - complement component 4a deficiency|DOID:9074 - systemic lupus erythematosus
478921	foxf1	DOID:13042 - persistent fetal circulation syndrome
478944	odc1	DOID:9256 - colorectal cancer
478952	agtr1	DOID:10825 - essential hypertension
478981	cdhr1	DOID:0050572 - cone-rod dystrophy|DOID:0111021 - cone-rod dystrophy 15|DOID:10584 - retinitis pigmentosa
478991	stat4	DOID:7148 - rheumatoid arthritis|DOID:9074 - systemic lupus erythematosus
479035	rap1b	DOID:0060473 - Kabuki syndrome
479054	foxc1	DOID:0050786 - iridogoniodysgenesis syndrome|DOID:0060673 - Peters anomaly|DOID:0080608 - anterior segment dysgenesis 3|DOID:0110122 - Axenfeld-Rieger syndrome type 3|DOID:14686 - Axenfeld-Rieger syndrome
479063	psmb8	DOID:0050553 - proteasome-associated autoinflammatory syndrome 1
479102	tbx21	DOID:0111579 - asthma, nasal polyps, and aspirin intolerance
479133	bmp6	DOID:0111031 - hemochromatosis type 5
479153	app	DOID:0070028 - APP-related cerebral amyloid angiopathy|DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease
479190	bmp1	DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110342 - osteogenesis imperfecta type 13
479254	fgfr3	DOID:0050331 - lacrimoauriculodentodigital syndrome 1|DOID:0060703 - Muenke Syndrome|DOID:0080041 - hypochondroplasia|DOID:0111158 - SADDAN|DOID:0111160 - camptodactyly-tall stature-scoliosis-hearing loss syndrome|DOID:0111161 - Crouzon syndrome-acanthosis nigricans syndrome|DOID:0111162 - epidermal nevus|DOID:11054 - urinary bladder cancer|DOID:13481 - thanatophoric dysplasia|DOID:2998 - testicular cancer|DOID:4362 - cervical cancer|DOID:4440 - seminoma|DOID:4480 - achondroplasia|DOID:5557 - testicular germ cell cancer|DOID:9256 - colorectal cancer
479278	eya1	DOID:0060232 - branchiootic syndrome|DOID:0111423 - branchiootorenal syndrome 1|DOID:14702 - branchiootorenal syndrome
479288	sufu	DOID:0050902 - medulloblastoma|DOID:0070365 - nevoid basal cell carcinoma syndrome 1|DOID:2512 - nevoid basal cell carcinoma syndrome|DOID:3565 - meningioma|DOID:9250 - acrocallosal syndrome
479298	bmp15	DOID:0080494 - ovarian dysgenesis 2|DOID:14450 - 46 XX gonadal dysgenesis|DOID:5426 - primary ovarian insufficiency
479305	ms4a1	DOID:0081148 - common variable immunodeficiency 5|DOID:12177 - common variable immunodeficiency
479311	slc12a3l	DOID:0050450 - Gitelman syndrome
479317	notch1	DOID:0060227 - Adams-Oliver syndrome|DOID:1712 - aortic valve stenosis
479353	nr0b2	DOID:9970 - obesity
479360	cfb	DOID:0110026 - age related macular degeneration 14
479380	hras	DOID:0050469 - Costello syndrome|DOID:0111162 - epidermal nevus|DOID:0111359 - large congenital melanocytic nevus|DOID:0111530 - linear nevus sebaceous syndrome|DOID:11054 - urinary bladder cancer|DOID:3962 - follicular thyroid carcinoma
479388	umod	DOID:0060062 - familial juvenile hyperuricemic nephropathy
479394	ttr	DOID:0050638 - transthyretin amyloidosis|DOID:0070466 - carpal tunnel syndrome 1|DOID:0080219 - dystransthyretinemic hyperthyroxinemia|DOID:12169 - carpal tunnel syndrome
479428	ar	DOID:0060161 - Kennedy's disease|DOID:0080776 - partial androgen insensitivity syndrome|DOID:10283 - prostate cancer|DOID:10892 - hypospadias|DOID:1924 - hypogonadism|DOID:4674 - androgen insensitivity syndrome
479511	bcap31	DOID:0112123 - deafness, dystonia, and cerebral hypomyelination
479537	aicda	DOID:0060758 - immunodeficiency with hyper-IgM type 2
479547	atp6v1a	DOID:0070129 - autosomal recessive cutis laxa type IID|DOID:0070136 - autosomal dominant cutis laxa 2|DOID:0112275 - developmental and epileptic encephalopathy 93
479557	zeb2	DOID:0060485 - Mowat-Wilson syndrome
479566	wnt3	DOID:0112192 - tetraamelia syndrome 1
479598	ctnna1	DOID:0060863 - patterned macular dystrophy|DOID:0060864 - patterned macular dystrophy 2
479642	mybpc3	DOID:0081158 - dilated cardiomyopathy 1MM|DOID:0110310 - hypertrophic cardiomyopathy 4|DOID:0110425 - dilated cardiomyopathy 1A
479666	pou3f4	DOID:0050566 - X-linked nonsyndromic deafness|DOID:0111737 - X-linked deafness 2|DOID:10003 - sensorineural hearing loss
479725	aqp5	DOID:0050428 - nonepidermolytic palmoplantar keratoderma|DOID:0111707 - Bothnian type palmoplantar keratoderma
479788	ace	DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease
479794	kng1	DOID:0111676 - high molecular weight kininogen deficiency
479801	twist1	DOID:14768 - Saethre-Chotzen syndrome|DOID:2340 - craniosynostosis
479826	tal1	DOID:9952 - acute lymphoblastic leukemia
479842	lrp1	DOID:0080751 - keratosis pilaris atrophicans
479867	tp63	DOID:0050601 - ADULT syndrome|DOID:0060330 - Rapp-Hodgkin syndrome|DOID:0060782 - EEC syndrome|DOID:0060783 - ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3|DOID:0090020 - split hand-foot malformation|DOID:0090023 - split hand-foot malformation 4|DOID:0090119 - ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
479917	il10	DOID:0081267 - graft-versus-host disease|DOID:635 - acquired immunodeficiency syndrome|DOID:7148 - rheumatoid arthritis
479924	slc12a1	DOID:0110142 - Bartter disease type 1
479940	tll1	DOID:0110111 - atrial heart septal defect 6
479979	hoxa13	DOID:0060739 - hand-foot-genital syndrome|DOID:0111544 - Guttmacher syndrome
479989	bmpr2	DOID:0081268 - pulmonary venoocclusive disease 1|DOID:14557 - primary pulmonary hypertension|DOID:5453 - pulmonary venoocclusive disease
480017	nr2f1	DOID:0112226 - Bosch-Boonstra-Schaaf optic atrophy syndrome
480066	tnik	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081216 - autosomal recessive intellectual developmental disorder 54
480075	foxg1	DOID:1206 - Rett syndrome
480102	mfn2	DOID:0080067 - Charcot-Marie-Tooth disease type 5|DOID:0080068 - Charcot-Marie-Tooth disease type 6|DOID:0110155 - Charcot-Marie-Tooth disease type 2A2A|DOID:0111557 - Charcot-Marie-Tooth disease type 2A2B|DOID:14116 - multiple symmetric lipomatosis
480121	hand1	DOID:0050651 - atrioventricular septal defect|DOID:1657 - ventricular septal defect
480130	tnf	DOID:2841 - asthma|DOID:6364 - migraine
480137	agt	DOID:10825 - essential hypertension
480145	pkd1l1	DOID:758 - situs inversus
480185	il6	DOID:0060688 - arteriovenous malformations of the brain|DOID:0110892 - inflammatory bowel disease 1|DOID:11476 - osteoporosis|DOID:676 - juvenile rheumatoid arthritis|DOID:9352 - type 2 diabetes mellitus|DOID:9744 - type 1 diabetes mellitus
480191	paxip1	DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease
480286	il12b	DOID:0111950 - immunodeficiency 29|DOID:0111955 - immunodeficiency 27A|DOID:2841 - asthma
480303	sox10	DOID:0090111 - PCWH syndrome|DOID:0110953 - Waardenburg syndrome type 4A|DOID:0110955 - Waardenburg syndrome type 4C|DOID:0110956 - Waardenburg syndrome type 2E|DOID:3614 - Kallmann syndrome
480313	pde6d	DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0110991 - Joubert syndrome 22
480319	hspb1	DOID:0110163 - Charcot-Marie-Tooth disease axonal type 2F|DOID:0111207 - autosomal dominant distal hereditary motor neuronopathy 3
480346	actc1	DOID:0110110 - atrial heart septal defect 5|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110317 - hypertrophic cardiomyopathy 11|DOID:0110456 - dilated cardiomyopathy 1R
480421	cd3g	DOID:0060018 - CD3gamma deficiency|DOID:0111973 - immunodeficiency 17
480430	zic3	DOID:0050545 - visceral heterotaxy|DOID:0111766 - X-linked VACTERL association
480458	casp10	DOID:0060060 - non-Hodgkin lymphoma|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0110115 - autoimmune lymphoproliferative syndrome type 2A|DOID:10534 - stomach cancer|DOID:6688 - autoimmune lymphoproliferative syndrome
480466	tjp2	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0070224 - progressive familial intrahepatic cholestasis 4
480505	tf	DOID:0050649 - atransferrinemia
480514	tnnc1	DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110319 - hypertrophic cardiomyopathy 13|DOID:0110434 - dilated cardiomyopathy 1Z
480550	gnal	DOID:0090055 - dystonia 25
480559	tgfb2	DOID:0050466 - Loeys-Dietz syndrome
480591	foxe3	DOID:0060605 - anterior segment mesenchymal dysgenesis|DOID:0060673 - Peters anomaly|DOID:0080606 - anterior segment dysgenesis 1|DOID:0080607 - anterior segment dysgenesis 2|DOID:0110230 - cataract 34 multiple types|DOID:11367 - congenital aphakia
480646	cyp21a2	DOID:0050811 - congenital adrenal hyperplasia
480697	nos3	DOID:0080348 - Alzheimer's disease 1|DOID:10591 - pre-eclampsia|DOID:10652 - Alzheimer's disease|DOID:10825 - essential hypertension|DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease
480716	six1	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060232 - branchiootic syndrome|DOID:0110553 - autosomal dominant nonsyndromic deafness 23|DOID:0111423 - branchiootorenal syndrome 1|DOID:14702 - branchiootorenal syndrome
480726	sox4	DOID:1925 - Coffin-Siris syndrome
480736	hoxa1	DOID:0050682 - Athabaskan brainstem dysgenesis syndrome
480764	spry4	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090079 - hypogonadotropic hypogonadism 17 with or without anosmia|DOID:3614 - Kallmann syndrome
480784	rasa2	DOID:3490 - Noonan syndrome
480835	rara	DOID:0060318 - acute promyelocytic leukemia
480854	apc	DOID:0050424 - familial adenomatous polyposis|DOID:0050902 - medulloblastoma|DOID:0080409 - familial adenomatous polyposis 1|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0090015 - Cenani-Lenz syndactyly syndrome|DOID:0111349 - hereditary desmoid disease|DOID:0112182 - mismatch repair cancer syndrome|DOID:10534 - stomach cancer|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
480874	sin3a	DOID:0060395 - chromosome 15q24 deletion syndrome
480892	nr4a2	DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease
480901	dll4	DOID:0060227 - Adams-Oliver syndrome
480946	rps6ka3	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112019 - non-syndromic X-linked intellectual disability 19|DOID:3783 - Coffin-Lowry syndrome
480956	igf2r	DOID:684 - hepatocellular carcinoma
480982	fgf8	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090086 - hypogonadotropic hypogonadism 6 with or without anosmia|DOID:3614 - Kallmann syndrome
481008	rarb	DOID:0050819 - obsolete Matthew-Wood syndrome|DOID:0111800 - syndromic microphthalmia 12
481017	psmb9	DOID:0060916 - proteasome-associated autoinflammatory syndrome 3
481037	gjb1	DOID:0110209 - Charcot-Marie-Tooth disease X-linked dominant 1
481046	stat3	DOID:0050751 - T-cell large granular lymphocyte leukemia|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:3261 - hyper IgE recurrent infection syndrome 1|DOID:7465 - chronic NK-cell lymphocytosis
481074	rorc	DOID:0111940 - immunodeficiency 42
481124	srsf2	DOID:4797 - SM-AHNMD
481144	tlr2	DOID:9256 - colorectal cancer
481164	prdx1	DOID:0050715 - methylmalonic aciduria and homocystinuria type cblC
481200	tfap2a	DOID:0050691 - branchiooculofacial syndrome
481256	pdp1	DOID:3649 - pyruvate decarboxylase deficiency
481271	met	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:12849 - autistic disorder|DOID:4465 - papillary renal cell carcinoma|DOID:684 - hepatocellular carcinoma
481306	smad6	DOID:0060912 - craniosynostosis 7|DOID:0080334 - aortic valve disease 2|DOID:1712 - aortic valve stenosis
481372	flt3	DOID:9119 - acute myeloid leukemia|DOID:9952 - acute lymphoblastic leukemia
481381	foxc2	DOID:0050468 - yellow nail syndrome|DOID:0050580 - hereditary lymphedema|DOID:0070213 - hereditary lymphedema II|DOID:0111509 - lymphedema-distichiasis syndrome
481400	aqp2	DOID:0081061 - nephrogenic diabetes insipidus type 2|DOID:12387 - nephrogenic diabetes insipidus
481418	gdf1	DOID:0060772 - multiple types of congenital heart defects 6|DOID:0060856 - right atrial isomerism|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot
481435	ghr	DOID:13810 - familial hypercholesterolemia|DOID:9521 - Laron syndrome
481464	kremen1	DOID:0111650 - ectodermal dysplasia 13
481529	map3k7	DOID:0111787 - frontometaphyseal dysplasia 2
481538	f2	DOID:0080701 - prothrombin thrombophilia|DOID:0111907 - thrombophilia due to thrombin defect|DOID:2235 - prothrombin deficiency|DOID:2452 - thrombophilia|DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease
481568	lmx1a	DOID:0110591 - autosomal dominant nonsyndromic deafness 7
481587	tnnt1	DOID:0110936 - nemaline myopathy 5A
481624	epb41	DOID:2373 - hereditary elliptocytosis
481653	tnfsf11	DOID:0110943 - autosomal recessive osteopetrosis 2
481679	tap2	DOID:0060009 - MHC class I deficiency
481724	a2m	DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease
481755	il1b	DOID:0080764 - hereditary diffuse gastric cancer|DOID:10534 - stomach cancer
481783	gdf5	DOID:0050788 - proximal symphalangism|DOID:0050790 - fibular hypoplasia and complex brachydactyly|DOID:0050794 - multiple synostoses syndrome|DOID:0080051 - acromesomelic dysplasia, Hunter-Thompson type|DOID:0080052 - acromesomelic dysplasia, Grebe type|DOID:0080787 - proximal symphalangism 1|DOID:0081318 - multiple synostoses syndrome 2|DOID:0110964 - brachydactyly type A1|DOID:0110965 - brachydactyly type A2|DOID:0110970 - brachydactyly type C|DOID:0110977 - brachydactyly type A1C
481793	zfpm2	DOID:0111770 - 46,XY sex reversal 9|DOID:3827 - congenital diaphragmatic hernia|DOID:6419 - tetralogy of Fallot
481809	gli2	DOID:0080328 - Culler-Jones syndrome|DOID:0110873 - holoprosencephaly 9
481819	lrp6	DOID:0050591 - tooth agenesis|DOID:3393 - coronary artery disease
481828	bmp2	DOID:0110965 - brachydactyly type A2|DOID:0111029 - hemochromatosis type 1
481848	tnxb	DOID:0080731 - Ehlers-Danlos syndrome classic-like 1|DOID:14757 - Ehlers-Danlos syndrome hypermobility type|DOID:9620 - vesicoureteral reflux
481854	il7r	DOID:0060010 - Omenn syndrome|DOID:0060015 - obsolete interleukin-7 receptor alpha deficiency|DOID:0090014 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
481879	fgf20	DOID:0060892 - late onset Parkinson's disease|DOID:0080200 - bilateral renal aplasia|DOID:14330 - Parkinson's disease
481897	amn	DOID:13382 - megaloblastic anemia
481915	psen1	DOID:0110042 - Alzheimer's disease 3|DOID:0110455 - dilated cardiomyopathy 1U|DOID:11870 - Pick's disease|DOID:2280 - hidradenitis suppurativa|DOID:9255 - frontotemporal dementia
481991	smad3	DOID:0050466 - Loeys-Dietz syndrome
482020	runx2	DOID:0111513 - metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome|DOID:13994 - cleidocranial dysplasia
482029	mfrp	DOID:0060837 - isolated microphthalmia 5|DOID:0080634 - nanophthalmos|DOID:10629 - microphthalmia
482045	tbl1xr1	DOID:0070071 - autosomal dominant intellectual developmental disorder 41|DOID:0081362 - Pierpont syndrome
482054	dlc1	DOID:9256 - colorectal cancer
482084	slc4a11	DOID:0060649 - congenital hereditary endothelial dystrophy of cornea|DOID:0111620 - corneal dystrophy-perceptive deafness syndrome|DOID:11555 - Fuchs' endothelial dystrophy
482090	myl2	DOID:0110316 - hypertrophic cardiomyopathy 10
482110	pkd2	DOID:0110859 - polycystic kidney disease 2|DOID:898 - autosomal dominant polycystic kidney disease
482117	il4r	DOID:635 - acquired immunodeficiency syndrome
482165	stat1	DOID:0111944 - immunodeficiency 31B|DOID:0111945 - immunodeficiency 31A|DOID:0111946 - immunodeficiency 31C|DOID:0111955 - immunodeficiency 27A|DOID:2058 - chronic mucocutaneous candidiasis
482175	csf3r	DOID:0060597 - atypical chronic myeloid leukemia, BCR-ABL1 negative|DOID:0080187 - chronic neutrophilic leukemia|DOID:0090120 - hereditary neutrophilia|DOID:0112129 - severe congenital neutropenia 7
482184	tubb	DOID:0090136 - complex cortical dysplasia with other brain malformations 6|DOID:0112242 - congenital symmetric circumferential skin creases 1
482192	esr1	DOID:1612 - breast cancer|DOID:6364 - migraine
482202	tnfrsf11a	DOID:0081365 - Paget's disease of bone 2|DOID:0110946 - autosomal recessive osteopetrosis 7|DOID:0111542 - familial expansile osteolysis|DOID:3347 - osteosarcoma|DOID:5408 - Paget's disease of bone
482237	pax9	DOID:0050591 - tooth agenesis
482276	cdh3	DOID:0110711 - congenital hypotrichosis with juvenile macular dystrophy|DOID:0111649 - ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
482286	avpr2	DOID:0081060 - X-linked nephrogenic diabetes insipidus|DOID:0112121 - nephrogenic syndrome of inappropriate antidiuresis|DOID:12387 - nephrogenic diabetes insipidus
482292	ep300	DOID:1933 - Rubinstein-Taybi syndrome|DOID:9256 - colorectal cancer
482319	hoxd13	DOID:0050689 - brachydactyly-syndactyly syndrome|DOID:0060242 - synpolydactyly|DOID:0110971 - brachydactyly type D|DOID:0110972 - brachydactyly type E1|DOID:0111819 - syndactyly type 5|DOID:11193 - syndactyly|DOID:14679 - VACTERL association
482339	il2rg	DOID:0060010 - Omenn syndrome|DOID:0060013 - X-linked severe combined immunodeficiency|DOID:628 - combined T cell and B cell immunodeficiency
482345	fgf5	DOID:0111566 - familial isolated trichomegaly
482399	timp3	DOID:0090114 - Sorsby's fundus dystrophy
482418	hnf4a	DOID:0050524 - maturity-onset diabetes of the young|DOID:0080760 - Fanconi renotubular syndrome 4|DOID:0111099 - maturity-onset diabetes of the young type 1|DOID:0111101 - maturity-onset diabetes of the young type 5|DOID:9352 - type 2 diabetes mellitus
482454	il17rd	DOID:0090076 - hypogonadotropic hypogonadism 18 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:3614 - Kallmann syndrome
482471	fgfrl1	DOID:0050460 - Wolf-Hirschhorn syndrome
482491	pitx2	DOID:0050650 - familial atrial fibrillation|DOID:0050786 - iridogoniodysgenesis syndrome|DOID:0060673 - Peters anomaly|DOID:0080609 - anterior segment dysgenesis 4|DOID:0080610 - anterior segment dysgenesis 5|DOID:0110120 - Axenfeld-Rieger syndrome type 1|DOID:0111548 - ring dermoid of cornea|DOID:14686 - Axenfeld-Rieger syndrome
482501	mpo	DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease
482510	smarce1	DOID:0112368 - Coffin-Siris syndrome 5|DOID:1925 - Coffin-Siris syndrome
482527	foxo1	DOID:4051 - alveolar rhabdomyosarcoma
482565	nr2f2	DOID:0080943 - 46,XX sex reversal 5
482585	igf2	DOID:14681 - Silver-Russell syndrome|DOID:2154 - nephroblastoma|DOID:5572 - Beckwith-Wiedemann syndrome
482604	tnnt3	DOID:0050646 - distal arthrogryposis|DOID:0111600 - distal arthrogryposis type 2B1
482613	tnnt2	DOID:0060480 - left ventricular noncompaction|DOID:0110308 - hypertrophic cardiomyopathy 2|DOID:0110426 - dilated cardiomyopathy 1D|DOID:0111427 - restrictive cardiomyopathy 3|DOID:397 - restrictive cardiomyopathy
482643	gli1	DOID:12714 - Ellis-Van Creveld syndrome
482653	zic2	DOID:0110878 - holoprosencephaly 5
482663	wnt10b	DOID:0050591 - tooth agenesis|DOID:0090020 - split hand-foot malformation|DOID:0090026 - split hand-foot malformation 6
482682	foxp2	DOID:0111275 - speech-language disorder-1
482739	pax3	DOID:0110948 - Waardenburg syndrome type 1|DOID:0110949 - Waardenburg syndrome type 3|DOID:0111336 - craniofacial-deafness-hand syndrome|DOID:4051 - alveolar rhabdomyosarcoma
482812	atp1b1	DOID:10825 - essential hypertension
482840	mmp2	DOID:0080696 - Winchester syndrome
482850	spred1	DOID:0070484 - Legius syndrome
482856	tp73	DOID:5409 - lung small cell carcinoma
482890	prickle2	DOID:0111276 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
482958	ncf2	DOID:0070191 - autosomal recessive chronic granulomatous disease 2|DOID:3265 - chronic granulomatous disease
482985	fgf23.2	DOID:0050948 - autosomal dominant hypophosphatemic rickets|DOID:0111063 - hyperphosphatemic familial tumoral calcinosis
483035	ctla4	DOID:0110751 - type 1 diabetes mellitus 12|DOID:12361 - Graves' disease|DOID:7997 - thyrotoxicosis|DOID:9074 - systemic lupus erythematosus
483048	fxyd2	DOID:0060885 - renal hypomagnesemia 2
483057	bmp4	DOID:0080404 - orofacial cleft 11|DOID:0111805 - syndromic microphthalmia 6|DOID:10629 - microphthalmia
483084	nr3c2	DOID:0060855 - autosomal dominant pseudohypoaldosteronism type 1
483135	pparg	DOID:0050440 - familial partial lipodystrophy|DOID:0070202 - familial partial lipodystrophy type 2|DOID:0070204 - familial partial lipodystrophy type 3|DOID:3070 - high grade glioma|DOID:9352 - type 2 diabetes mellitus|DOID:9970 - obesity
483145	six6	DOID:0080635 - optic disc anomalies with retinal and/or macular dystrophy|DOID:0111801 - syndromic microphthalmia 3|DOID:10629 - microphthalmia
483154	tecta.2	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110479 - autosomal recessive nonsyndromic deafness 21|DOID:0110544 - autosomal dominant nonsyndromic deafness 12
483163	runx1	DOID:7148 - rheumatoid arthritis|DOID:9119 - acute myeloid leukemia
483182	flt4	DOID:0050580 - hereditary lymphedema
483192	hesx1	DOID:0060857 - septooptic dysplasia|DOID:3614 - Kallmann syndrome
483208	nodal	DOID:758 - situs inversus
483215	fgb	DOID:2236 - congenital afibrinogenemia
483232	sox18	DOID:0111360 - hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|DOID:0111361 - hypotrichosis-lymphedema-telangiectasia syndrome
483260	il1rapl1	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112022 - non-syndromic X-linked intellectual disability 21
483281	cd19	DOID:0081145 - common variable immunodeficiency 2|DOID:0081146 - common variable immunodeficiency 3|DOID:12177 - common variable immunodeficiency
483323	mstn	DOID:0111072 - myostatin-related muscle hypertrophy
483330	pdx1	DOID:0050524 - maturity-onset diabetes of the young|DOID:0050877 - pancreatic agenesis|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0111103 - maturity-onset diabetes of the young type 4|DOID:9352 - type 2 diabetes mellitus
483378	ctbp1	DOID:0050460 - Wolf-Hirschhorn syndrome
483408	pkd1	DOID:0110858 - polycystic kidney disease 1|DOID:898 - autosomal dominant polycystic kidney disease
483417	sox11	DOID:0070057 - Coffin-Siris syndrome 9|DOID:1925 - Coffin-Siris syndrome
483435	slc12a5	DOID:0080460 - developmental and epileptic encephalopathy 34
483454	bmpr1b	DOID:0050790 - fibular hypoplasia and complex brachydactyly|DOID:0080052 - acromesomelic dysplasia, Grebe type|DOID:0081237 - acromesomelic dysplasia-3|DOID:0110964 - brachydactyly type A1|DOID:0110965 - brachydactyly type A2|DOID:0110978 - brachydactyly type A1D
483464	dhh	DOID:0111774 - 46,XY sex reversal 7|DOID:14448 - 46,XY sex reversal
483509	esrrb	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110493 - autosomal recessive nonsyndromic deafness 35
483529	csf2rb	DOID:12120 - pulmonary alveolar proteinosis
483563	rab7a	DOID:0110159 - Charcot-Marie-Tooth disease type 2B
483588	fgf16	DOID:0111813 - syndactyly type 8|DOID:1040 - chronic lymphocytic leukemia
483598	cdh11	DOID:0080631 - Elsahy-Waters syndrome
483673	fgf14	DOID:0050976 - spinocerebellar ataxia type 27
483683	tek	DOID:0050792 - multiple cutaneous and mucosal venous malformations
483692	pax8	DOID:0070124 - congenital nongoitrous hypothyroidism 2
483702	pomc	DOID:9970 - obesity
483711	jak2	DOID:0060652 - familial erythrocytosis 1|DOID:11512 - Budd-Chiari syndrome|DOID:2224 - essential thrombocythemia|DOID:4971 - myelofibrosis|DOID:8997 - polycythemia vera|DOID:9119 - acute myeloid leukemia
483739	slc34a2	DOID:12117 - pulmonary alveolar microlithiasis
483759	crb1	DOID:0110079 - Leber congenital amaurosis 8|DOID:0110358 - retinitis pigmentosa 12|DOID:0111541 - pigmented paravenous chorioretinal atrophy|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
483794	gdnf	DOID:0050771 - pheochromocytoma|DOID:0060731 - congenital central hypoventilation syndrome
483869	dvl1	DOID:0060765 - autosomal dominant Robinow syndrome 2|DOID:0060766 - autosomal dominant Robinow syndrome 1
483939	arx	DOID:0050453 - lissencephaly|DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112021 - non-syndromic X-linked intellectual disability ARX-related|DOID:0112151 - corpus callosum agenesis-abnormal genitalia syndrome|DOID:0112238 - X-linked lissencephaly 2|DOID:14744 - Partington syndrome
483949	tacc3	DOID:11054 - urinary bladder cancer
483959	kcnj1	DOID:0110142 - Bartter disease type 1|DOID:0110143 - Bartter disease type 2
483982	smarca4	DOID:0070046 - Coffin-Siris syndrome 4|DOID:1925 - Coffin-Siris syndrome|DOID:6179 - ovarian small cell carcinoma
484049	nppa	DOID:0050650 - familial atrial fibrillation|DOID:0080663 - atrial standstill 2
484087	pax6	DOID:0060605 - anterior segment mesenchymal dysgenesis|DOID:0060673 - Peters anomaly|DOID:0070530 - foveal hypoplasia 1|DOID:0070532 - aniridia 1|DOID:0080606 - anterior segment dysgenesis 1|DOID:0080610 - anterior segment dysgenesis 5|DOID:0110266 - cataract 9 multiple types|DOID:0111383 - autosomal dominant keratitis|DOID:0111531 - bilateral optic nerve hypoplasia|DOID:0111578 - Gillespie syndrome|DOID:11975 - coloboma of optic nerve|DOID:12270 - coloboma|DOID:12271 - aniridia|DOID:14515 - WAGR syndrome
484097	wnt4	DOID:0111526 - Mullerian aplasia and hyperandrogenism|DOID:0112178 - Mayer-Rokitansky-Kuster-Hauser syndrome type 1|DOID:14450 - 46 XX gonadal dysgenesis
484116	hnf1a	DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0050524 - maturity-onset diabetes of the young|DOID:0110757 - type 1 diabetes mellitus 20|DOID:0111102 - maturity-onset diabetes of the young type 3|DOID:0111366 - familial hepatic adenoma|DOID:9352 - type 2 diabetes mellitus|DOID:9744 - type 1 diabetes mellitus
484145	mc2r	DOID:0080621 - glucocorticoid deficiency 1
484167	akt2	DOID:0112263 - hypoinsulinemic hypoglycemia with hemihypertrophy|DOID:9352 - type 2 diabetes mellitus
484186	ihh	DOID:0050604 - acrocapitofemoral dysplasia|DOID:0110964 - brachydactyly type A1
484223	acvrl1	DOID:1270 - hereditary hemorrhagic telangiectasia
484247	acvr2b	DOID:0050545 - visceral heterotaxy
484276	popdc1	DOID:0110290 - autosomal recessive limb-girdle muscular dystrophy type 2X
484285	tp53	DOID:0111503 - Li-Fraumeni syndrome 1|DOID:1040 - chronic lymphocytic leukemia|DOID:1612 - breast cancer|DOID:2626 - choroid plexus papilloma|DOID:3012 - Li-Fraumeni syndrome|DOID:3070 - high grade glioma|DOID:3347 - osteosarcoma|DOID:3376 - bone osteosarcoma|DOID:3948 - adrenocortical carcinoma|DOID:4905 - pancreatic carcinoma|DOID:5409 - lung small cell carcinoma|DOID:5648 - choroid plexus carcinoma|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer|DOID:9261 - nasopharynx carcinoma
484294	sox17a	DOID:9620 - vesicoureteral reflux
484312	slc9a1	DOID:0080065 - autosomal recessive spinocerebellar ataxia 19
484347	ca2	DOID:0110941 - autosomal recessive osteopetrosis 3
484415	slc22a5	DOID:14365 - systemic primary carnitine deficiency disease
484424	ptf1a	DOID:0050877 - pancreatic agenesis
484446	fn1	DOID:0112297 - spondylometaphyseal dysplasia corner fracture type
484465	fgf9	DOID:0050794 - multiple synostoses syndrome|DOID:0081319 - multiple synostoses syndrome 3
484532	vegfc	DOID:0050580 - hereditary lymphedema
484552	sox2	DOID:0060857 - septooptic dysplasia|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111801 - syndromic microphthalmia 3|DOID:10629 - microphthalmia
484626	mip	DOID:0110251 - cataract 15 multiple types|DOID:0110266 - cataract 9 multiple types
484635	gata1	DOID:0060888 - transient myeloproliferative syndrome|DOID:0111767 - X-linked thrombocytopenia with beta-thalassemia|DOID:0112156 - X-linked dyserythropoietic anemia|DOID:13271 - cutaneous porphyria|DOID:1339 - Diamond-Blackfan anemia|DOID:14250 - Down syndrome|DOID:1588 - thrombocytopenia
484654	zeb1	DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110857 - posterior polymorphous corneal dystrophy 3|DOID:11555 - Fuchs' endothelial dystrophy
484662	prrx1	DOID:0060341 - agnathia-otocephaly complex
484685	smad9	DOID:14557 - primary pulmonary hypertension
484694	fshb	DOID:0090088 - hypogonadotropic hypogonadism 24 without anosmia
484765	ezr	DOID:0060308 - autosomal recessive intellectual developmental disorder
484784	ahsg	DOID:0080628 - alopecia-mental retardation syndrome 1
484814	sox3	DOID:0060857 - septooptic dysplasia|DOID:0111779 - X-linked panhypopituitarism|DOID:9410 - panhypopituitarism
484830	atp1a1	DOID:0111558 - Charcot-Marie-Tooth disease type 2DD
484854	gli3	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:1148 - polydactyly|DOID:14761 - Greig cephalopolysyndactyly syndrome|DOID:9248 - Pallister-Hall syndrome|DOID:9250 - acrocallosal syndrome
484864	sox17b	DOID:9620 - vesicoureteral reflux
484881	spink2	DOID:0111930 - spermatogenic failure 29
484887	tp53rk	DOID:0060364 - Galloway-Mowat syndrome 1|DOID:0080246 - Galloway-Mowat syndrome 4
484905	gata5	DOID:0050650 - familial atrial fibrillation|DOID:6419 - tetralogy of Fallot
484952	akt1	DOID:0081002 - Cowden syndrome 6|DOID:13482 - Proteus syndrome|DOID:1612 - breast cancer|DOID:2394 - ovarian cancer|DOID:5419 - schizophrenia|DOID:6457 - Cowden syndrome|DOID:9256 - colorectal cancer
484961	mitf	DOID:0090002 - Tietz syndrome|DOID:0090100 - ocular albinism with sensorineural deafness|DOID:0110950 - Waardenburg syndrome type 2A
484998	wt1	DOID:0050438 - Frasier syndrome|DOID:0070532 - aniridia 1|DOID:1184 - nephrotic syndrome|DOID:12271 - aniridia|DOID:14515 - WAGR syndrome|DOID:1790 - malignant mesothelioma|DOID:2154 - nephroblastoma|DOID:3764 - Denys-Drash syndrome
485008	mmp1	DOID:0060642 - recessive dystrophic epidermolysis bullosa|DOID:3083 - chronic obstructive pulmonary disease
485025	tfap2b	DOID:0060563 - Char syndrome
485043	fgf10	DOID:0050331 - lacrimoauriculodentodigital syndrome 1|DOID:0111549 - aplasia of lacrimal and salivary glands
485062	gata6	DOID:0050650 - familial atrial fibrillation|DOID:0050651 - atrioventricular septal defect|DOID:0110114 - atrial heart septal defect 9|DOID:0111733 - pancreatic hypoplasia-diabetes-congenital heart disease syndrome|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot
485092	nos2	DOID:10825 - essential hypertension
485100	nphs2	DOID:1184 - nephrotic syndrome
485110	kmt2c	DOID:0080598 - Kleefstra syndrome 2
485116	lrp5	DOID:0050535 - exudative vitreoretinopathy|DOID:0060849 - osteoporosis-pseudoglioma syndrome|DOID:0080036 - SOST-related sclerosing bone dysplasia|DOID:0080037 - Worth syndrome|DOID:0110937 - autosomal dominant osteopetrosis 1|DOID:0111411 - exudative vitreoretinopathy 4|DOID:0111412 - exudative vitreoretinopathy 1|DOID:11476 - osteoporosis
485175	ret	DOID:0050430 - multiple endocrine neoplasia type 2A|DOID:0050547 - familial medullary thyroid carcinoma|DOID:0050771 - pheochromocytoma|DOID:0060731 - congenital central hypoventilation syndrome|DOID:0080200 - bilateral renal aplasia|DOID:10016 - multiple endocrine neoplasia type 2B|DOID:14766 - renal agenesis
485203	hoxd10	DOID:0111568 - congenital vertical talus
485219	otx2	DOID:0060857 - septooptic dysplasia|DOID:0060863 - patterned macular dystrophy|DOID:0111806 - syndromic microphthalmia 5|DOID:10629 - microphthalmia|DOID:9406 - hypopituitarism
485251	sall4	DOID:0060747 - Duane-radial ray syndrome|DOID:0111381 - IVIC syndrome
485279	wnt1	DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110347 - osteogenesis imperfecta type 15
485320	zfhx2	DOID:0081075 - Marsili syndrome
485360	nr5a1	DOID:0070169 - spermatogenic failure 8|DOID:0080864 - primary ovarian insufficiency 7|DOID:0111764 - 46,XX sex reversal 4|DOID:0111772 - 46,XY sex reversal 3|DOID:14227 - azoospermia|DOID:14448 - 46,XY sex reversal|DOID:14450 - 46 XX gonadal dysgenesis|DOID:5426 - primary ovarian insufficiency
485386	arhgef12	DOID:9119 - acute myeloid leukemia
485404	pax4	DOID:0050524 - maturity-onset diabetes of the young|DOID:0111107 - maturity-onset diabetes of the young type 9|DOID:1837 - diabetic ketoacidosis|DOID:9352 - type 2 diabetes mellitus
485413	tshb	DOID:0070123 - congenital nongoitrous hypothyroidism 4
485440	pitx1	DOID:11836 - clubfoot
485456	slc44a4	DOID:0050564 - autosomal dominant nonsyndromic deafness
485486	eya4	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110440 - dilated cardiomyopathy 1J|DOID:0110542 - autosomal dominant nonsyndromic deafness 10
485535	mapkbp1	DOID:0111112 - nephronophthisis 1|DOID:0111127 - nephronophthisis 20
485544	dcn	DOID:0060445 - congenital stromal corneal dystrophy
485605	tgfbr2	DOID:0050466 - Loeys-Dietz syndrome|DOID:5041 - esophageal cancer
485615	bmpr1a	DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050787 - juvenile polyposis syndrome|DOID:0060389 - chromosome 10q23 deletion syndrome|DOID:0111686 - hereditary mixed polyposis syndrome 2|DOID:6457 - Cowden syndrome
485642	mmp14	DOID:0080696 - Winchester syndrome
485651	hnf1b	DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0060885 - renal hypomagnesemia 2|DOID:0111101 - maturity-onset diabetes of the young type 5|DOID:10283 - prostate cancer|DOID:9352 - type 2 diabetes mellitus
485661	jag1	DOID:6419 - tetralogy of Fallot|DOID:9245 - Alagille syndrome
485690	smad4	DOID:0050787 - juvenile polyposis syndrome|DOID:0111543 - juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome|DOID:1270 - hereditary hemorrhagic telangiectasia|DOID:4905 - pancreatic carcinoma
485743	vegfa	DOID:9352 - type 2 diabetes mellitus
485765	ifngr2	DOID:0111955 - immunodeficiency 27A|DOID:0111995 - immunodeficiency 28
485800	nr2e3	DOID:0090059 - enhanced S-cone syndrome|DOID:0110399 - retinitis pigmentosa 37|DOID:10584 - retinitis pigmentosa
485815	sim1	DOID:9970 - obesity
485853	hivep2	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070073 - autosomal dominant intellectual developmental disorder 43
485904	ins	DOID:0050524 - maturity-onset diabetes of the young|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0110741 - type 1 diabetes mellitus 2|DOID:0111099 - maturity-onset diabetes of the young type 1|DOID:0111108 - maturity-onset diabetes of the young type 10
485929	gata3	DOID:0060878 - hypoparathyroidism-deafness-renal disease syndrome
485945	tpm1	DOID:0060480 - left ventricular noncompaction|DOID:0110309 - hypertrophic cardiomyopathy 3|DOID:0110457 - dilated cardiomyopathy 1Y
485974	tcf7l2	DOID:9352 - type 2 diabetes mellitus
485984	nkx2-1	DOID:12859 - choreatic disease|DOID:3969 - papillary thyroid carcinoma
485994	grhl2	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0080669 - posterior polymorphous corneal dystrophy 4|DOID:0110557 - autosomal dominant nonsyndromic deafness 28
486003	smad7	DOID:9256 - colorectal cancer
486032	lemd3	DOID:0111536 - Buschke-Ollendorff syndrome|DOID:4253 - melorheostosis
486051	lrp2	DOID:0090144 - Donnai-Barrow syndrome
486112	lhb	DOID:0090091 - hypogonadotropic hypogonadism 23 with or without anosmia
486130	hrg	DOID:0111903 - thrombophilia due to HRG deficiency
486146	msr1	DOID:10283 - prostate cancer|DOID:9206 - Barrett's esophagus
486161	pitx3	DOID:0060605 - anterior segment mesenchymal dysgenesis|DOID:0080606 - anterior segment dysgenesis 1|DOID:0110249 - cataract 11 multiple types
486232	skic2	DOID:0111416 - trichohepatoenteric syndrome 2
486239	slc26a3.2	DOID:0060296 - congenital secretory chloride diarrhea 1
486248	ift88	DOID:10584 - retinitis pigmentosa
486255	esr2	DOID:0050547 - familial medullary thyroid carcinoma
486273	c3	DOID:0110021 - age related macular degeneration 9|DOID:8354 - complement component 3 deficiency
486282	nphp1	DOID:0050576 - Senior-Loken syndrome|DOID:0110999 - Joubert syndrome 4|DOID:0111112 - nephronophthisis 1|DOID:1935 - Bardet-Biedl syndrome
486295	fst	DOID:11612 - polycystic ovary syndrome
486305	per2	DOID:0050628 - advanced sleep phase syndrome|DOID:0110011 - advanced sleep phase syndrome 1
486370	c5	DOID:8158 - complement component 5 deficiency
486400	mybpc1	DOID:0050646 - distal arthrogryposis|DOID:0060653 - lethal congenital contracture syndrome 3|DOID:0060654 - lethal congenital contracture syndrome 4|DOID:0111598 - distal arthrogryposis type 1B
486461	slc2a2	DOID:9352 - type 2 diabetes mellitus
486471	slc5a5	DOID:0112185 - thyroid dyshormonogenesis 1
486481	hes7.2	DOID:0050568 - spondylocostal dysostosis|DOID:0112364 - spondylocostal dysostosis 4
486504	vdr	DOID:0080884 - vitamin D-dependent rickets type 2A|DOID:10609 - rickets|DOID:11476 - osteoporosis
486531	rhd	DOID:0050641 - Rh deficiency syndrome
486548	slc6a2	DOID:0111154 - postural orthostatic tachycardia syndrome
486611	foxl2	DOID:14778 - blepharophimosis, ptosis, and epicanthus inversus syndrome|DOID:5426 - primary ovarian insufficiency
486649	myd88	DOID:0060901 - lymphoplasmacytic lymphoma
486684	prkch	DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease
486736	amhr2	DOID:0050791 - persistent Mullerian duct syndrome
486761	tap1	DOID:0060009 - MHC class I deficiency
486780	axin1	DOID:684 - hepatocellular carcinoma
486800	pax2	DOID:0090006 - renal coloboma syndrome|DOID:0111132 - focal segmental glomerulosclerosis 7|DOID:14766 - renal agenesis
486854	tbx5	DOID:0060468 - Holt-Oram syndrome
486883	trpm7	DOID:0111246 - amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
486940	prickle1	DOID:0111448 - progressive myoclonus epilepsy 1B|DOID:3535 - Unverricht-Lundborg syndrome|DOID:891 - progressive myoclonus epilepsy
486950	nkx2-6	DOID:6406 - double outlet right ventricle
486957	mef2c	DOID:0070050 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
486986	tnni3	DOID:0110313 - hypertrophic cardiomyopathy 7|DOID:0110459 - dilated cardiomyopathy 1FF|DOID:0110460 - dilated cardiomyopathy 2A|DOID:0111425 - restrictive cardiomyopathy 1|DOID:397 - restrictive cardiomyopathy
487058	pde6c	DOID:0050795 - cone dystrophy|DOID:13911 - achromatopsia
487139	pax7	DOID:4051 - alveolar rhabdomyosarcoma
487199	ctnnb1	DOID:0050535 - exudative vitreoretinopathy|DOID:0050902 - medulloblastoma|DOID:0070049 - autosomal dominant intellectual developmental disorder 19|DOID:0080264 - exudative vitreoretinopathy 7|DOID:2394 - ovarian cancer|DOID:3840 - craniopharyngioma|DOID:5374 - pilomatrixoma|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
487209	mcph1	DOID:10907 - microcephaly
487235	cux2	DOID:0050561 - Lennox-Gastaut syndrome
487269	syngap1	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070035 - autosomal dominant intellectual developmental disorder 5
487278	dnm1l	DOID:0070347 - encephalopathy due to defective mitochondrial and peroxisomal fission 1|DOID:0111438 - optic atrophy 5
487308	gdf3	DOID:0060838 - isolated microphthalmia 7|DOID:10426 - Klippel-Feil syndrome|DOID:10629 - microphthalmia
487333	tbx20	DOID:0110109 - atrial heart septal defect 4
487361	nherf1	DOID:0080078 - hypophosphatemic nephrolithiasis/osteoporosis 2
487370	snai2	DOID:0110952 - obsolete Waardenburg syndrome type 2D|DOID:3263 - piebaldism
487393	mef2a	DOID:3393 - coronary artery disease
487403	arnt2	DOID:0060857 - septooptic dysplasia
487419	smo	DOID:2513 - basal cell carcinoma
487447	mif	DOID:676 - juvenile rheumatoid arthritis
487457	gata4	DOID:0050650 - familial atrial fibrillation|DOID:0050651 - atrioventricular septal defect|DOID:0110107 - atrial heart septal defect 2|DOID:1657 - ventricular septal defect|DOID:6419 - tetralogy of Fallot
487535	nphp4.2	DOID:0050576 - Senior-Loken syndrome|DOID:0111112 - nephronophthisis 1|DOID:0111115 - nephronophthisis 4
487562	slc11a2	DOID:0050642 - hypochromic microcytic anemia
487572	alas2	DOID:0060063 - sideroblastic anemia 1|DOID:13270 - erythropoietic protoporphyria
487582	pdgfb	DOID:0060230 - basal ganglia calcification|DOID:3507 - dermatofibrosarcoma protuberans|DOID:3565 - meningioma|DOID:4586 - familial meningioma
487609	nos1	DOID:12638 - hypertrophic pyloric stenosis
487674	meis2	DOID:0111697 - cleft palate, cardiac defects, and intellectual disabillity
487692	ptgis	DOID:10825 - essential hypertension
487698	htra1	DOID:0110019 - age related macular degeneration 7|DOID:0111036 - CADASIL 2|DOID:13945 - CADASIL
487707	tfrc	DOID:0111948 - immunodeficiency 46
487723	nog	DOID:0050788 - proximal symphalangism|DOID:0050789 - tarsal-carpal coalition syndrome|DOID:0050794 - multiple synostoses syndrome|DOID:0080787 - proximal symphalangism 1|DOID:0081317 - multiple synostoses syndrome 1|DOID:0110975 - brachydactyly type B2
487748	slc9a7	DOID:0050776 - non-syndromic X-linked intellectual disability
487754	casp8	DOID:0110116 - autoimmune lymphoproliferative syndrome type 2B|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:684 - hepatocellular carcinoma
487810	nphs1	DOID:0080390 - nephrotic syndrome type 1|DOID:1184 - nephrotic syndrome
487872	nphp3	DOID:0050576 - Senior-Loken syndrome|DOID:0060259 - renal-hepatic-pancreatic dysplasia|DOID:0070121 - Meckel syndrome 7|DOID:0111114 - nephronophthisis 3|DOID:0111124 - nephronophthisis 16
487881	gh1	DOID:0060872 - isolated growth hormone deficiency type II|DOID:0060873 - isolated growth hormone deficiency type IA|DOID:0060874 - isolated growth hormone deficiency type IB
487923	csnk2b	DOID:0060307 - autosomal dominant intellectual developmental disorder
487941	nr1h4	DOID:0070225 - progressive familial intrahepatic cholestasis 5
487959	nr0b1	DOID:0080156 - X-linked adrenal hypoplasia congenita|DOID:0111777 - 46,XY sex reversal 2|DOID:14448 - 46,XY sex reversal
487965	nkx2-5	DOID:0050650 - familial atrial fibrillation|DOID:0070125 - congenital nongoitrous hypothyroidism 5|DOID:0110112 - atrial heart septal defect 7|DOID:1657 - ventricular septal defect|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot|DOID:9955 - hypoplastic left heart syndrome
487974	lfng	DOID:0050568 - spondylocostal dysostosis|DOID:0112361 - spondylocostal dysostosis 3
488023	nf1	DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0070482 - spinal neurofibromatosis|DOID:0070483 - Watson syndrome|DOID:0111253 - neurofibromatosis 1|DOID:0111683 - neurofibromatosis-Noonan syndrome|DOID:8712 - neurofibromatosis
488038	shh	DOID:0110875 - holoprosencephaly 3|DOID:0111380 - solitary median maxillary central incisor|DOID:1148 - polydactyly|DOID:12270 - coloboma
488096	spink1	DOID:4989 - pancreatitis
488110	tgfb1	DOID:1485 - cystic fibrosis|DOID:4997 - Camurati-Engelmann disease
488148	ifng	DOID:0080324 - tuberous sclerosis 1|DOID:0080325 - tuberous sclerosis 2|DOID:12449 - aplastic anemia|DOID:13515 - tuberous sclerosis|DOID:635 - acquired immunodeficiency syndrome
488198	socs3	DOID:0110100 - atopic dermatitis 4
488207	trac	DOID:0111977 - immunodeficiency 7
488216	anos1	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090094 - hypogonadotropic hypogonadism 1 with or without anosmia|DOID:3614 - Kallmann syndrome
488221	ptch1	DOID:0050902 - medulloblastoma|DOID:0070365 - nevoid basal cell carcinoma syndrome 1|DOID:0110876 - holoprosencephaly 7|DOID:2512 - nevoid basal cell carcinoma syndrome|DOID:2513 - basal cell carcinoma
488396	slc49a4	DOID:0050387 - nonpapillary renal cell carcinoma
488405	prcc	DOID:4465 - papillary renal cell carcinoma
488432	lyz	DOID:0050636 - familial visceral amyloidosis
488441	aspscr1	DOID:4239 - alveolar soft part sarcoma
488450	rnf139	DOID:0050387 - nonpapillary renal cell carcinoma
488469	tbp	DOID:0050967 - spinocerebellar ataxia type 17|DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease
488511	bicc1	DOID:0111682 - diffuse cystic renal dysplasia
488766	hdac4	DOID:0111704 - chromosome 2q37 deletion syndrome
488910	sh3tc2	DOID:0110183 - Charcot-Marie-Tooth disease type 4C
488943	zbtb24	DOID:0090007 - immunodeficiency-centromeric instability-facial anomalies syndrome|DOID:0090009 - immunodeficiency-centromeric instability-facial anomalies syndrome 2
488987	tmpo	DOID:0110425 - dilated cardiomyopathy 1A
489007	rac1	DOID:0080235 - autosomal dominant intellectual developmental disorder 48
489121	actn2	DOID:0110428 - dilated cardiomyopathy 1AA
489159	smn1	DOID:0050529 - adult spinal muscular atrophy|DOID:0050530 - intermediate spinal muscular atrophy|DOID:0060160 - childhood spinal muscular atrophy|DOID:12376 - juvenile spinal muscular atrophy|DOID:13137 - Werdnig-Hoffmann disease
489194	tbce	DOID:0060348 - hypoparathyroidism-retardation-dysmorphism syndrome|DOID:0080722 - Kenny-Caffey syndrome type 1
489237	gjb3	DOID:0050467 - erythrokeratodermia variabilis|DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110475 - autosomal recessive nonsyndromic deafness 1A|DOID:0110558 - autosomal dominant nonsyndromic deafness 2A|DOID:0110559 - autosomal dominant nonsyndromic deafness 2B
489247	nedd4l	DOID:0050454 - periventricular nodular heterotopia
489335	prpf31	DOID:0110408 - retinitis pigmentosa 11|DOID:10584 - retinitis pigmentosa
489345	rab11a	DOID:0060307 - autosomal dominant intellectual developmental disorder
489396	jup	DOID:0080551 - Naxos disease|DOID:0110083 - arrhythmogenic right ventricular dysplasia 12
489406	anln	DOID:0111133 - focal segmental glomerulosclerosis 8
489495	mras	DOID:3490 - Noonan syndrome
489534	gsn	DOID:0050637 - Finnish type amyloidosis
489657	lmnb1	DOID:0060785 - adult-onset autosomal dominant demyelinating leukodystrophy
489736	cd40lg	DOID:0060022 - CD40 ligand deficiency
489783	ifrd1	DOID:0050969 - spinocerebellar ataxia type 18
489810	rasgrp1	DOID:6688 - autoimmune lymphoproliferative syndrome
489819	src	DOID:9256 - colorectal cancer
489851	rab18	DOID:0060237 - Warburg micro syndrome|DOID:0110718 - Warburg micro syndrome 3
489906	tbx18	DOID:0080207 - CAKUT2
489916	cxcr4	DOID:0060591 - WHIM syndrome 1
489942	creb3l1	DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110345 - osteogenesis imperfecta type 16
489981	itga6	DOID:0060733 - junctional epidermolysis bullosa with pyloric atresia
490007	cav1	DOID:0111137 - congenital generalized lipodystrophy type 3|DOID:14557 - primary pulmonary hypertension
490074	lhx3	DOID:9406 - hypopituitarism
490114	smpx	DOID:0050566 - X-linked nonsyndromic deafness|DOID:0111735 - X-linked deafness 4
490142	atp8b1	DOID:0070226 - progressive familial intrahepatic cholestasis 1|DOID:0070231 - benign recurrent intrahepatic cholestasis 1|DOID:1852 - intrahepatic cholestasis
490159	kitlg	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110590 - autosomal dominant nonsyndromic deafness 69|DOID:0111373 - familial progressive hyperpigmentation with or without hypopigmentation
490168	znf423	DOID:0111122 - nephronophthisis 14|DOID:0111124 - nephronophthisis 16
490255	il21r	DOID:0111982 - immunodeficiency 56
490261	alk	DOID:769 - neuroblastoma
490288	tapbp	DOID:0060009 - MHC class I deficiency
490368	krt17	DOID:0050449 - pachyonychia congenita|DOID:0111556 - steatocystoma multiplex
490377	msx1	DOID:0050567 - orofacial cleft|DOID:0050591 - tooth agenesis|DOID:0080399 - orofacial cleft 5|DOID:6678 - tooth and nail syndrome
490409	arpc1b	DOID:0112004 - immunodeficiency 71
490442	lmnb2	DOID:0111450 - progressive myoclonus epilepsy 9
490471	adamts3	DOID:0060366 - Hennekam syndrome
490480	gja5	DOID:0050650 - familial atrial fibrillation|DOID:0060411 - chromosome 1q21.1 deletion syndrome|DOID:0080662 - atrial standstill 1
490562	rab27a	DOID:0060833 - Griscelli syndrome type 2
490580	prokr2	DOID:0060857 - septooptic dysplasia|DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090092 - hypogonadotropic hypogonadism 3 with or without anosmia|DOID:3614 - Kallmann syndrome
490605	tubgcp6	DOID:0080105 - microcephaly and chorioretinopathy 1
490623	brca1	DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer|DOID:5683 - hereditary breast ovarian cancer syndrome
490632	gcnt2.2	DOID:0110242 - cataract 13 with adult i phenotype|DOID:0110243 - cataract 46 juvenile-onset
490651	palld.2	DOID:4905 - pancreatic carcinoma
490674	smarcc2	DOID:1925 - Coffin-Siris syndrome
490703	cnksr2	DOID:0050776 - non-syndromic X-linked intellectual disability
490746	sdc3	DOID:9970 - obesity
490755	rbpj	DOID:0060227 - Adams-Oliver syndrome
490807	sftpb	DOID:12120 - pulmonary alveolar proteinosis
490882	actb	DOID:0060229 - Baraitser-Winter syndrome|DOID:0081112 - Baraitser-Winter syndrome 1
490891	ror1	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080263 - autosomal recessive nonsyndromic deafness 108
490900	flrt3	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090093 - hypogonadotropic hypogonadism 21 with or without anosmia|DOID:3614 - Kallmann syndrome
490934	mak	DOID:0110380 - retinitis pigmentosa 62|DOID:10584 - retinitis pigmentosa
490992	hnrnpa2b1	DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia
491001	inhba	DOID:3713 - ovary adenocarcinoma
491048	tlr3	DOID:0110014 - age related macular degeneration 1|DOID:635 - acquired immunodeficiency syndrome
491065	igbp1	DOID:0060816 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
491078	nfkbia	DOID:0081079 - ectodermal dysplasia and immunodeficiency 2|DOID:9261 - nasopharynx carcinoma
491113	dicer1	DOID:0050489 - multinodular goiter|DOID:4769 - pleuropulmonary blastoma
491120	tubb2b	DOID:0050997 - cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome|DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0090132 - complex cortical dysplasia with other brain malformations 7
491161	osmr	DOID:0050639 - primary cutaneous amyloidosis|DOID:0080930 - primary localized cutaneous amyloidosis 1
491265	tubg1	DOID:0090138 - complex cortical dysplasia with other brain malformations 4
491300	rab33b	DOID:0060247 - Smith-McCort dysplasia|DOID:0081271 - Smith-McCort dysplasia 2
491392	sall1	DOID:0050887 - Townes-Brocks syndrome
491432	pten	DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050787 - juvenile polyposis syndrome|DOID:0050866 - oral squamous cell carcinoma|DOID:0060389 - chromosome 10q23 deletion syndrome|DOID:0060867 - macrocephaly-autism syndrome|DOID:10283 - prostate cancer|DOID:13482 - Proteus syndrome|DOID:1380 - endometrial cancer|DOID:14679 - VACTERL association|DOID:2876 - laryngeal squamous cell carcinoma|DOID:3070 - high grade glioma|DOID:3962 - follicular thyroid carcinoma|DOID:5520 - head and neck squamous cell carcinoma|DOID:6457 - Cowden syndrome
491479	eed	DOID:14731 - Weaver syndrome
491497	ror2	DOID:0060764 - autosomal recessive Robinow syndrome|DOID:0110969 - brachydactyly type B1
491597	ak2	DOID:0060020 - reticular dysgenesis
491607	yars1	DOID:0110199 - Charcot-Marie-Tooth disease dominant intermediate C
491617	actg1	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060229 - Baraitser-Winter syndrome|DOID:0081113 - Baraitser-Winter syndrome 2|DOID:0110550 - autosomal dominant nonsyndromic deafness 20
491653	pon2	DOID:332 - amyotrophic lateral sclerosis
491685	slc25a1	DOID:0111619 - combined D-2- and L-2-hydroxyglutaric aciduria
491695	tubgcp4	DOID:0080105 - microcephaly and chorioretinopathy 1|DOID:0080107 - microcephaly and chorioretinopathy 3
491713	cntn1	DOID:0080101 - Compton-North congenital myopathy
491732	rbm12	DOID:0080281 - schizophrenia 19
491742	apbb2	DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease
491809	malt1	DOID:0111988 - immunodeficiency 12
491919	hpca	DOID:0090038 - torsion dystonia 2
491937	acta1	DOID:0080102 - congenital myopathy 4A|DOID:0110927 - nemaline myopathy 3
491964	lox	DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:3144 - cutis laxa
491973	megf10	DOID:0111333 - early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
492000	aldh7a1	DOID:0070519 - early-onset vitamin B6-dependent epilepsy 4|DOID:0080768 - pyridoxine-dependent epilepsy
492019	rlim	DOID:0112042 - Tonne-Kalscheuer syndrome
492034	bard1	DOID:1612 - breast cancer
492105	nefl	DOID:0080294 - Charcot-Marie-Tooth disease dominant intermediate G|DOID:0110149 - Charcot-Marie-Tooth disease type 1F|DOID:0110165 - Charcot-Marie-Tooth disease type 2E
492155	gcm2	DOID:0111387 - familial isolated hypoparathyroidism|DOID:11199 - hypoparathyroidism
492194	dsp	DOID:0081109 - keratosis palmoplantaris striata 2|DOID:0090128 - Carvajal syndrome|DOID:0110076 - arrhythmogenic right ventricular dysplasia 8
492212	ppp1r3a	DOID:0050440 - familial partial lipodystrophy|DOID:0070204 - familial partial lipodystrophy type 3|DOID:9352 - type 2 diabetes mellitus
492341	adamts2	DOID:0080733 - Ehlers-Danlos syndrome dermatosparaxis type
492350	syne2	DOID:0070250 - autosomal dominant Emery-Dreifuss muscular dystrophy 5|DOID:11726 - Emery-Dreifuss muscular dystrophy
492369	brip1	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111097 - Fanconi anemia complementation group J|DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer
492421	alox5ap	DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease
492449	triobp	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110486 - autosomal recessive nonsyndromic deafness 28
492458	mex3c	DOID:10825 - essential hypertension
492489	arid1a	DOID:0070044 - Coffin-Siris syndrome 2|DOID:1925 - Coffin-Siris syndrome
492511	kit	DOID:2998 - testicular cancer|DOID:3263 - piebaldism|DOID:350 - mastocytosis|DOID:4440 - seminoma|DOID:4797 - SM-AHNMD|DOID:5557 - testicular germ cell cancer|DOID:5842 - testis seminoma|DOID:9119 - acute myeloid leukemia|DOID:9253 - gastrointestinal stromal tumor
492527	trpm1	DOID:0050534 - congenital stationary night blindness|DOID:0110867 - congenital stationary night blindness 1C
492608	myo15a	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110488 - autosomal recessive nonsyndromic deafness 3
492625	rab23	DOID:0060234 - Carpenter syndrome
492664	rax	DOID:0060842 - isolated microphthalmia 3|DOID:10629 - microphthalmia
492699	smarcad1	DOID:0080725 - BASAN syndrome|DOID:0111357 - adermatoglyphia
492724	sptb	DOID:0110917 - hereditary spherocytosis type 2|DOID:12971 - hereditary spherocytosis|DOID:2373 - hereditary elliptocytosis
492743	lhx4	DOID:9406 - hypopituitarism
492835	sh2b3	DOID:0060652 - familial erythrocytosis 1|DOID:10608 - celiac disease|DOID:2224 - essential thrombocythemia|DOID:4971 - myelofibrosis|DOID:9744 - type 1 diabetes mellitus
492932	sf3b4	DOID:0060383 - acrofacial dysostosis Rodriguez type|DOID:5768 - Nager acrofacial dysostosis
492999	prok2	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090077 - hypogonadotropic hypogonadism 4 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:3614 - Kallmann syndrome
493023	vim	DOID:0110235 - cataract 2 multiple types|DOID:0110248 - cataract 30
493085	mxi1	DOID:10283 - prostate cancer
493095	kcnq3	DOID:0060169 - benign familial infantile epilepsy|DOID:14264 - benign neonatal seizures
493146	nexn	DOID:0110326 - hypertrophic cardiomyopathy 20|DOID:0110424 - dilated cardiomyopathy 1CC
493196	atp6v0a4	DOID:14219 - renal tubular acidosis
493220	mertk	DOID:0110367 - retinitis pigmentosa 38|DOID:10584 - retinitis pigmentosa
493229	gja8	DOID:0060252 - sclerocornea|DOID:0060411 - chromosome 1q21.1 deletion syndrome|DOID:0110231 - cataract 1 multiple types|DOID:0110235 - cataract 2 multiple types
493263	col1a2	DOID:0080727 - Ehlers-Danlos syndrome arthrochalasia type 1|DOID:0080728 - Ehlers-Danlos syndrome arthrochalasia type 2|DOID:0110334 - osteogenesis imperfecta type 1|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110341 - osteogenesis imperfecta type 2|DOID:11476 - osteoporosis
493297	prpf4	DOID:0110392 - retinitis pigmentosa 70|DOID:10584 - retinitis pigmentosa
493334	ttbk2	DOID:0050961 - spinocerebellar ataxia type 11
493350	nfkbil1	DOID:7148 - rheumatoid arthritis
493390	smarcal1	DOID:0060490 - Schimke immuno-osseous dysplasia
493399	tbcd	DOID:0070423 - early onset progressive encephalopathy with brain atrophy and thin corpus callosum
493421	fgd4	DOID:0110192 - Charcot-Marie-Tooth disease type 4H
493440	nr4a3	DOID:4549 - extraskeletal myxoid chondrosarcoma|DOID:6496 - obsolete extraskeletal myxoid chondrosarcoma
493483	il10rb	DOID:0110909 - inflammatory bowel disease 25
493501	shoc2	DOID:0080692 - Noonan syndrome-like disorder with loose anagen hair 1
493569	rab39b	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0111781 - Waisman syndrome|DOID:0112059 - non-syndromic X-linked intellectual disability 72
493578	flnc	DOID:0080096 - myofibrillar myopathy 5|DOID:0110327 - hypertrophic cardiomyopathy 26|DOID:0111190 - distal myopathy 4|DOID:11720 - distal myopathy
493597	smarcb1	DOID:0070045 - Coffin-Siris syndrome 3|DOID:0070480 - schwannomatosis 1|DOID:1925 - Coffin-Siris syndrome|DOID:2129 - atypical teratoid rhabdoid tumor|DOID:3204 - schwannomatosis|DOID:3565 - meningioma
493607	plk4	DOID:0050569 - Seckel syndrome|DOID:0080105 - microcephaly and chorioretinopathy 1|DOID:0080106 - microcephaly and chorioretinopathy 2
493678	cd36	DOID:0111046 - platelet-type bleeding disorder 10
493756	atrip	DOID:0050569 - Seckel syndrome
493809	atm	DOID:0050746 - mantle cell lymphoma|DOID:1040 - chronic lymphocytic leukemia|DOID:12704 - ataxia telangiectasia|DOID:1612 - breast cancer
493856	prph	DOID:0060193 - amyotrophic lateral sclerosis type 1
493892	mrps2	DOID:0111482 - combined oxidative phosphorylation deficiency 36
493901	gfpt1	DOID:0110660 - congenital myasthenic syndrome 12|DOID:0110679 - congenital myasthenic syndrome 4C
493908	actn1	DOID:0111053 - platelet-type bleeding disorder 15
493936	acta2	DOID:13099 - Moyamoya disease|DOID:14004 - thoracic aortic aneurysm
493962	hnrnpa1	DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia|DOID:0060211 - amyotrophic lateral sclerosis type 20|DOID:0111386 - inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3|DOID:332 - amyotrophic lateral sclerosis
493987	alox5	DOID:2841 - asthma
493996	vhl	DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0050771 - pheochromocytoma|DOID:0060474 - familial erythrocytosis 2|DOID:14175 - von Hippel-Lindau disease
494027	ski	DOID:2340 - craniosynostosis
494059	myo7a	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110477 - autosomal recessive nonsyndromic deafness 2|DOID:0110543 - autosomal dominant nonsyndromic deafness 11|DOID:0110826 - Usher syndrome type 1|DOID:0110827 - Usher syndrome type 2
494069	p4hb	DOID:0060438 - Cole-Carpenter syndrome
494124	foxi1	DOID:0050332 - enlarged vestibular aqueduct|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4
494160	gja3	DOID:0110235 - cataract 2 multiple types|DOID:0110253 - cataract 14 multiple types
494199	grin1	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070038 - autosomal dominant intellectual developmental disorder 8
494213	clcf1	DOID:0060294 - cold-induced sweating syndrome
494301	adrb2	DOID:2841 - asthma|DOID:9970 - obesity
494319	kptn	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081206 - autosomal recessive intellectual developmental disorder 41
494338	actn4	DOID:0111128 - focal segmental glomerulosclerosis 1
494376	sall2	DOID:12270 - coloboma
494420	asah1	DOID:0050464 - Farber lipogranulomatosis|DOID:0111527 - spinal muscular atrophy with progressive myoclonic epilepsy
494464	tpi1	DOID:0050884 - triosephosphate isomerase deficiency
494473	ripk4	DOID:0060055 - popliteal pterygium syndrome
494482	rax2	DOID:0050572 - cone-rod dystrophy|DOID:0111018 - cone-rod dystrophy 11|DOID:0111065 - autosomal recessive distal hereditary motor neuronopathy 2
494504	trit1	DOID:0111464 - combined oxidative phosphorylation deficiency 35
494511	lrp4	DOID:0060251 - sclerosteosis|DOID:0060757 - sclerosteosis 2|DOID:0090015 - Cenani-Lenz syndactyly syndrome
494528	alg2	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080561 - congenital disorder of glycosylation Ii|DOID:0110669 - congenital myasthenic syndrome 14
494538	ifnar2	DOID:0111994 - immunodeficiency 45
494556	fbn2	DOID:0050646 - distal arthrogryposis|DOID:0111595 - congenital contractural arachnodactyly
494583	mid1	DOID:0050780 - obsolete Opitz-GBBB syndrome|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0080697 - Opitz GBBB syndrome
494613	prkdc	DOID:0111961 - immunodeficiency 26
494641	flnb	DOID:0050648 - atelosteogenesis|DOID:0050680 - Boomerang dysplasia|DOID:0090116 - spondylocarpotarsal synostosis syndrome|DOID:14764 - Larsen syndrome
494656	clcn2	DOID:446 - primary hyperaldosteronism|DOID:4890 - juvenile myoclonic epilepsy|DOID:644 - leukoencephalopathy
494690	rassf1	DOID:1324 - lung cancer
494739	mecp2	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060799 - syndromic X-linked intellectual disability Lubs type|DOID:0060827 - X-linked intellectual disability-psychosis-macroorchidism syndrome|DOID:0111932 - severe congenital encephalopathy due to MECP2 mutation|DOID:1206 - Rett syndrome|DOID:1932 - Angelman syndrome
494749	lmx1b	DOID:1067 - open-angle glaucoma|DOID:1068 - juvenile glaucoma|DOID:9467 - nail-patella syndrome
494816	smarca5	DOID:83 - cataract
494826	fscn2	DOID:0110406 - retinitis pigmentosa 30|DOID:10584 - retinitis pigmentosa
494835	sgce	DOID:0090033 - myoclonic dystonia|DOID:0090034 - myoclonic dystonia 11
494930	des	DOID:0080092 - myofibrillar myopathy 1|DOID:0110431 - dilated cardiomyopathy 1I|DOID:0111551 - neurogenic scapuloperoneal syndrome Kaeser type
494949	rac2	DOID:0112064 - immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
494977	bap1	DOID:6039 - uveal melanoma
495015	hnrnpdl	DOID:0110306 - autosomal dominant limb-girdle muscular dystrophy type 3
495034	cited2	DOID:0110113 - atrial heart septal defect 8|DOID:1657 - ventricular septal defect
495052	sumf1	DOID:0050441 - mucosulfatidosis
495062	ndufv1	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease|DOID:4252 - Alexander disease
495118	fus	DOID:0060198 - amyotrophic lateral sclerosis type 6|DOID:332 - amyotrophic lateral sclerosis|DOID:4990 - essential tremor
495378	pot1	DOID:1040 - chronic lymphocytic leukemia
495402	flrt1	DOID:0060491 - SPOAN syndrome
852665	amelx	DOID:0110058 - amelogenesis imperfecta type 1E
852693	tgfa	DOID:0050591 - tooth agenesis
852728	gyg1	DOID:0050579 - glycogen storage disease XV
852756	kmt5b	DOID:0080232 - autosomal dominant intellectual developmental disorder 51
852770	sftpc	DOID:0050156 - idiopathic pulmonary fibrosis|DOID:12120 - pulmonary alveolar proteinosis
852782	ndp	DOID:0050535 - exudative vitreoretinopathy|DOID:0060282 - persistent hyperplastic primary vitreous|DOID:0060844 - Norrie disease
852806	adnp	DOID:0070058 - Helsmoortel-Van Der Aa Syndrome
852842	dmd.2	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060561 - DMD-related dilated cardiomyopathy|DOID:0081164 - obsolete dilated cardiomyopathy 3B|DOID:0110461 - X-linked dilated cardiomyopathy|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy
852873	dcc	DOID:0111153 - congenital mirror movement disorder|DOID:3614 - Kallmann syndrome|DOID:5041 - esophageal cancer|DOID:9256 - colorectal cancer
852904	tusc3	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081183 - autosomal recessive intellectual developmental disorder 7|DOID:10283 - prostate cancer
852913	mmp20	DOID:0110057 - amelogenesis imperfecta type 2A1|DOID:0110060 - amelogenesis imperfecta hypomaturation type 2A2
852956	erf	DOID:2339 - Crouzon syndrome|DOID:2340 - craniosynostosis
852973	msx2	DOID:0060285 - parietal foramina|DOID:2340 - craniosynostosis
852985	fbxw4	DOID:0090025 - split hand-foot malformation 3
853002	alx4	DOID:0060285 - parietal foramina|DOID:0081046 - frontonasal dysplasia 2
853010	grip1	DOID:0090001 - Fraser syndrome|DOID:0111405 - Fraser syndrome 1|DOID:0111406 - Fraser syndrome 3
853020	tgif1	DOID:0110698 - hypotrichosis 1|DOID:0110880 - holoprosencephaly 4
853056	dlx5	DOID:0090020 - split hand-foot malformation|DOID:0090024 - split hand-foot malformation 1 with sensorineural hearing loss
853069	cux1	DOID:0060307 - autosomal dominant intellectual developmental disorder
853081	aurka	DOID:9256 - colorectal cancer
853094	alx1	DOID:0081047 - frontonasal dysplasia 3
853107	en2	DOID:12849 - autistic disorder
853165	vsx1	DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1|DOID:10126 - keratoconus
853183	dlx6	DOID:0090020 - split hand-foot malformation
853212	apoe	DOID:0110014 - age related macular degeneration 1|DOID:0110035 - Alzheimer's disease 2|DOID:0110040 - Alzheimer's disease 4|DOID:3145 - hyperlipoproteinemia type III|DOID:4423 - sea-blue histiocytosis
853265	cp	DOID:0050711 - aceruloplasminemia
853273	nipbl	DOID:11725 - Cornelia de Lange syndrome
853289	egr2	DOID:0050540 - Charcot-Marie-Tooth disease type 3|DOID:0110150 - Charcot-Marie-Tooth disease type 1D|DOID:0110195 - Charcot-Marie-Tooth disease type 4E
853300	upk3a	DOID:14766 - renal agenesis
853368	erbb3	DOID:0060560 - lethal congenital contracture syndrome 2
853396	cebpa	DOID:9119 - acute myeloid leukemia
853603	vps13b	DOID:0111590 - Cohen syndrome
853608	spag1	DOID:0050144 - Kartagener syndrome|DOID:0110607 - primary ciliary dyskinesia 28
853640	pou4f3	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110546 - autosomal dominant nonsyndromic deafness 15
853647	foxj1	DOID:0050144 - Kartagener syndrome|DOID:4481 - allergic rhinitis
853668	slc24a5	DOID:0080614 - oculocutaneous albinism type VI
853686	slc17a5	DOID:3659 - sialuria
853730	zfhx3	DOID:10283 - prostate cancer
853774	vsx2	DOID:0060839 - isolated microphthalmia 2|DOID:10629 - microphthalmia
853785	ambn	DOID:0110065 - amelogenesis imperfecta type 1F
853792	prom1	DOID:0050572 - cone-rod dystrophy|DOID:0050817 - Stargardt disease|DOID:0070517 - retinal macular dystrophy 2|DOID:0110376 - retinitis pigmentosa 41|DOID:0111019 - cone-rod dystrophy 12|DOID:10584 - retinitis pigmentosa
853856	phox2a	DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0081016 - congenital fibrosis of the extraocular muscles 2
853922	etv6	DOID:0111344 - myeloproliferative disorder with eosinophilia|DOID:9119 - acute myeloid leukemia
853932	ptpn22	DOID:7148 - rheumatoid arthritis|DOID:9074 - systemic lupus erythematosus|DOID:9744 - type 1 diabetes mellitus
853954	ocln	DOID:0050656 - pseudo-TORCH syndrome 1
853971	cftr	DOID:0111864 - autosomal recessive congenital bilateral absence of vas deferens|DOID:1485 - cystic fibrosis|DOID:4989 - pancreatitis|DOID:9563 - bronchiectasis
854021	hps3	DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060541 - Hermansky-Pudlak syndrome 3
854096	pou1f1	DOID:0060872 - isolated growth hormone deficiency type II|DOID:9406 - hypopituitarism
854192	ovol2	DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1
854456	chrnb2	DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060684 - autosomal dominant nocturnal frontal lobe epilepsy 3
854472	adar	DOID:0050629 - Aicardi-Goutieres syndrome|DOID:0060257 - dyschromatosis symmetrica hereditaria
854494	pkhd1	DOID:0050876 - Caroli disease|DOID:0110861 - autosomal recessive polycystic kidney disease
854508	cd247	DOID:0111942 - immunodeficiency 25
854542	dnah5	DOID:0050144 - Kartagener syndrome|DOID:0110599 - primary ciliary dyskinesia 3
854549	dync1h1	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070043 - autosomal dominant intellectual developmental disorder 13|DOID:0070351 - spinal muscular atrophy with lower extremity predominant 1|DOID:0110175 - Charcot-Marie-Tooth disease axonal type 2O
854591	hps6	DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060544 - Hermansky-Pudlak syndrome 6
854650	psenen	DOID:0060256 - Dowling-Degos disease|DOID:2280 - hidradenitis suppurativa
854693	dnai2	DOID:0050144 - Kartagener syndrome|DOID:0110622 - primary ciliary dyskinesia 9
854703	nprl2	DOID:0081422 - familial focal epilepsy with variable foci 2
854776	prdm5	DOID:14775 - brittle cornea syndrome 1
854813	rtn4ip1	DOID:0111434 - optic atrophy 10
854835	hycc1	DOID:0060793 - hypomyelinating leukodystrophy 5
854850	dnal4	DOID:0111153 - congenital mirror movement disorder
854876	psen2	DOID:0110040 - Alzheimer's disease 4|DOID:0110427 - dilated cardiomyopathy 1V
854887	mapkapk3	DOID:0060865 - patterned macular dystrophy 3
854909	palld	DOID:4905 - pancreatic carcinoma
855492	ifngr2.2	DOID:0111955 - immunodeficiency 27A|DOID:0111995 - immunodeficiency 28
855610	mn1	DOID:4586 - familial meningioma
855644	osbpl2	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110588 - autosomal dominant nonsyndromic deafness 67
855698	slc5a1	DOID:4194 - glucose metabolism disease
855712	mstn.2	DOID:0111072 - myostatin-related muscle hypertrophy
855714	umod.3	DOID:0060062 - familial juvenile hyperuricemic nephropathy
855716	umod.2	DOID:0060062 - familial juvenile hyperuricemic nephropathy
855718	slc26a3	DOID:0060296 - congenital secretory chloride diarrhea 1
855724	kmt2d	DOID:0060473 - Kabuki syndrome
855790	appl1	DOID:0050524 - maturity-onset diabetes of the young
855850	ifnar2.2	DOID:0111994 - immunodeficiency 45
855917	cox6a1	DOID:0110203 - Charcot-Marie-Tooth disease recessive intermediate D
855929	acads	DOID:0080154 - short chain acyl-CoA dehydrogenase deficiency
855963	ppib	DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110341 - osteogenesis imperfecta type 2|DOID:0110349 - osteogenesis imperfecta type 9
856239	kdm5b	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081226 - autosomal recessive intellectual developmental disorder 65
856480	prkar1a	DOID:0050471 - Carney complex|DOID:0060280 - primary pigmented nodular adrenocortical disease|DOID:14669 - acrodysostosis|DOID:3969 - papillary thyroid carcinoma
856536	plxnd1	DOID:13501 - Moebius syndrome
862913	ctcf	DOID:0070051 - autosomal dominant intellectual developmental disorder 21
866804	slc12a3	DOID:0050450 - Gitelman syndrome
867524	ext1	DOID:206 - hereditary multiple exostoses|DOID:3371 - chondrosarcoma|DOID:4998 - trichorhinophalangeal syndrome type II
867541	ext2	DOID:206 - hereditary multiple exostoses
868352	camk2a	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080228 - autosomal dominant intellectual developmental disorder 53|DOID:0081224 - autosomal recessive intellectual developmental disorder 63
868376	nanos1	DOID:0070171 - spermatogenic failure 12|DOID:14227 - azoospermia
868397	camk2b	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080230 - autosomal dominant intellectual developmental disorder 54
868442	plag1	DOID:452 - pleomorphic adenoma
868498	diaph3	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060690 - autosomal dominant auditory neuropathy 1
876278	neurog3	DOID:0060779 - congenital malabsorptive diarrhea 4
876409	irf6	DOID:0050591 - tooth agenesis|DOID:0060055 - popliteal pterygium syndrome|DOID:0060239 - Van der Woude syndrome
876464	hes7	DOID:0050568 - spondylocostal dysostosis|DOID:0112364 - spondylocostal dysostosis 4
876491	myo18b	DOID:0080592 - Klippel-Feil syndrome 4
876521	ikzf1	DOID:0081155 - common variable immunodeficiency 13
876550	prkcg	DOID:0050964 - spinocerebellar ataxia type 14
876601	gja1	DOID:0050467 - erythrokeratodermia variabilis|DOID:0050651 - atrioventricular septal defect|DOID:0060291 - oculodentodigital dysplasia|DOID:0080033 - craniometaphyseal dysplasia|DOID:0111244 - palmoplantar keratoderma and congenital alopecia 1|DOID:0111817 - syndactyly type 3|DOID:11193 - syndactyly|DOID:4534 - Hallermann-Streiff syndrome|DOID:9955 - hypoplastic left heart syndrome
876668	col11a2	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060465 - fibrochondrogenesis|DOID:0080026 - otospondylomegaepiphyseal dysplasia, autosomal recessive|DOID:0080046 - Stickler syndrome|DOID:0080673 - fibrochondrogenesis 2|DOID:0080677 - otospondylomegaepiphyseal dysplasia, autosomal dominant|DOID:0110509 - autosomal recessive nonsyndromic deafness 53|DOID:0110545 - autosomal dominant nonsyndromic deafness 13
876680	cyp21a2.2	DOID:0050811 - congenital adrenal hyperplasia
876697	tgfbr2l	DOID:0050466 - Loeys-Dietz syndrome|DOID:5041 - esophageal cancer
876705	smad6.2	DOID:0060912 - craniosynostosis 7|DOID:0080334 - aortic valve disease 2|DOID:1712 - aortic valve stenosis
876839	per3	DOID:0050628 - advanced sleep phase syndrome
876858	kank1	DOID:0081360 - spastic quadriplegic cerebral palsy 2|DOID:10970 - spastic quadriplegic cerebral palsy
876968	mpz	DOID:0050540 - Charcot-Marie-Tooth disease type 3|DOID:0110152 - Charcot-Marie-Tooth disease type 1B|DOID:0110157 - Charcot-Marie-Tooth disease type 2J|DOID:0110158 - Charcot-Marie-Tooth disease type 2I|DOID:0110195 - Charcot-Marie-Tooth disease type 4E|DOID:0110200 - Charcot-Marie-Tooth disease dominant intermediate D
876976	gal	DOID:0060754 - familial temporal lobe epilepsy 8
877003	wnk1	DOID:0070155 - hereditary sensory and autonomic neuropathy type 2A|DOID:0070161 - hereditary sensory and autonomic neuropathy type 2
877014	serpinf2	DOID:0060601 - alpha-2-plasmin inhibitor deficiency
877063	tmie	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110512 - autosomal recessive nonsyndromic deafness 6
877076	erbb4	DOID:0060210 - amyotrophic lateral sclerosis type 19|DOID:332 - amyotrophic lateral sclerosis
877156	itpr2	DOID:0060603 - isolated anhidrosis with normal sweat glands
877177	odad3	DOID:0050144 - Kartagener syndrome|DOID:0110624 - primary ciliary dyskinesia 30
877229	chd7	DOID:0050834 - CHARGE syndrome|DOID:0060010 - Omenn syndrome|DOID:0060250 - idiopathic scoliosis|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090084 - hypogonadotropic hypogonadism 5 with or without anosmia|DOID:3614 - Kallmann syndrome
877243	fastkd2	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
877278	trmt10c	DOID:0111471 - combined oxidative phosphorylation deficiency 30
877287	aspm	DOID:10907 - microcephaly
877326	epb41l1	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070041 - autosomal dominant intellectual developmental disorder 11
919589	cnbp	DOID:0050759 - myotonic dystrophy type 2
919737	foxj1.2	DOID:0050144 - Kartagener syndrome|DOID:4481 - allergic rhinitis
919748	cd3e	DOID:0060017 - CD3epsilon deficiency|DOID:0111971 - immunodeficiency 18
919796	grhl3	DOID:0060239 - Van der Woude syndrome
919852	cxcl12	DOID:635 - acquired immunodeficiency syndrome
919871	intu	DOID:0080289 - orofaciodigital syndrome XVII
919889	mnx1	DOID:0111546 - Currarino syndrome
919946	rbm28	DOID:0112244 - alopecia, neurologic defects, and endocrinopathy syndrome
919964	des.2	DOID:0080092 - myofibrillar myopathy 1|DOID:0110431 - dilated cardiomyopathy 1I|DOID:0111551 - neurogenic scapuloperoneal syndrome Kaeser type
920012	wdr19	DOID:0050576 - Senior-Loken syndrome|DOID:0050577 - cranioectodermal dysplasia|DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0080033 - craniometaphyseal dysplasia|DOID:0080806 - cranioectodermal dysplasia 4|DOID:0110089 - asphyxiating thoracic dystrophy 5|DOID:0111112 - nephronophthisis 1|DOID:0111121 - nephronophthisis 13
920040	lmx1b.2	DOID:1067 - open-angle glaucoma|DOID:1068 - juvenile glaucoma|DOID:9467 - nail-patella syndrome
920067	nefh	DOID:0060193 - amyotrophic lateral sclerosis type 1|DOID:0110180 - Charcot-Marie-Tooth disease axonal type 2CC
920105	dnah1	DOID:0050144 - Kartagener syndrome|DOID:0070165 - spermatogenic failure 18|DOID:0080266 - primary ciliary dyskinesia 37
920151	tpo	DOID:0112186 - thyroid dyshormonogenesis 2A
920171	ccbe1	DOID:0060366 - Hennekam syndrome
920189	atxn2	DOID:0050955 - spinocerebellar ataxia type 2|DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease
920235	fgf23	DOID:0050948 - autosomal dominant hypophosphatemic rickets|DOID:0111063 - hyperphosphatemic familial tumoral calcinosis
920254	armc5	DOID:0111624 - ACTH-independent macronodular adrenal hyperplasia 2
920287	vim.2	DOID:0110235 - cataract 2 multiple types|DOID:0110248 - cataract 30
920361	dhcr7	DOID:14692 - Smith-Lemli-Opitz syndrome
920446	pla2g6	DOID:0060900 - Parkinson's disease 14|DOID:0110735 - neurodegeneration with brain iron accumulation 2a|DOID:0110736 - neurodegeneration with brain iron accumulation 2b
920576	rnpc3	DOID:0060873 - isolated growth hormone deficiency type IA
920721	lmna	DOID:0050440 - familial partial lipodystrophy|DOID:0060762 - restrictive dermopathy|DOID:0070202 - familial partial lipodystrophy type 2|DOID:0070247 - autosomal dominant Emery-Dreifuss muscular dystrophy 2|DOID:0070248 - autosomal recessive Emery-Dreifuss muscular dystrophy 3|DOID:0070369 - restrictive dermopathy 1|DOID:0081128 - mandibuloacral dysplasia type A lipodystrophy|DOID:0110156 - Charcot-Marie-Tooth disease type 2B1|DOID:0110301 - autosomal dominant limb-girdle muscular dystrophy type 1B|DOID:0110425 - dilated cardiomyopathy 1A|DOID:0110640 - congenital muscular dystrophy due to LMNA mutation|DOID:0111584 - dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome|DOID:11726 - Emery-Dreifuss muscular dystrophy|DOID:3911 - progeria|DOID:5688 - Werner syndrome
920732	insr	DOID:0050470 - Donohue syndrome|DOID:0070220 - familial hyperinsulinemic hypoglycemia 5|DOID:13317 - hyperinsulinemic hypoglycemia
920751	shox	DOID:0060847 - Leri-Weill dyschondrosteosis|DOID:0112120 - SHOX-related short stature
920764	itpr1	DOID:0050965 - spinocerebellar ataxia type 15|DOID:0050978 - spinocerebellar ataxia type 29|DOID:0111578 - Gillespie syndrome
920854	men1	DOID:10017 - multiple endocrine neoplasia type 1|DOID:13543 - hyperparathyroidism
921336	porcn	DOID:2120 - focal dermal hypoplasia
921442	pdgfrl	DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
921488	ptprq	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080269 - autosomal dominant nonsyndromic deafness 73|DOID:0110529 - autosomal recessive nonsyndromic deafness 84A
921493	acan	DOID:0112282 - spondyloepiphyseal dysplasia Kimberley type|DOID:84 - osteochondritis dissecans
921509	scn4b	DOID:0050650 - familial atrial fibrillation|DOID:0110644 - long QT syndrome 1|DOID:0110651 - long QT syndrome 10
921597	amt	DOID:9268 - glycine encephalopathy
921634	gnao1	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080450 - developmental and epileptic encephalopathy 17|DOID:0112276 - neurodevelopmental disorder with involuntary movements
921738	scn2b	DOID:0050650 - familial atrial fibrillation
921759	aipl1	DOID:0110332 - Leber congenital amaurosis 4|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
921779	gusb	DOID:12803 - Sly syndrome
921797	vwf	DOID:0060573 - von Willebrand's disease 1|DOID:0060574 - von Willebrand's disease 2|DOID:0111054 - von Willebrand's disease 3|DOID:12531 - von Willebrand's disease
921946	bbs2	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110124 - Bardet-Biedl syndrome 2|DOID:0110401 - retinitis pigmentosa 74|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome
921956	lingo1	DOID:0081225 - autosomal recessive intellectual developmental disorder 64
922049	dnaaf19	DOID:0050144 - Kartagener syndrome|DOID:0110621 - primary ciliary dyskinesia 17
922094	agtr2	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112053 - non-syndromic X-linked intellectual disability 88
922240	slc37a4	DOID:0081330 - glycogen storage disease Ib|DOID:0081331 - glycogen storage disease Ic|DOID:2749 - glycogen storage disease Ia
922280	trem2	DOID:0090112 - Nasu-Hakola disease
922295	kirrel3	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070034 - autosomal dominant intellectual developmental disorder 4
922320	traip	DOID:0050569 - Seckel syndrome|DOID:0070005 - Seckel syndrome 9
922335	kcnma1	DOID:0070442 - paroxysmal nonkinesigenic dyskinesia 3
922347	cetp	DOID:0111369 - hyperalphalipoproteinemia 1
922380	ldb3	DOID:0080095 - myofibrillar myopathy 4|DOID:0110423 - dilated cardiomyopathy 1C
922444	axl	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
922455	crlf1	DOID:0060294 - cold-induced sweating syndrome
922469	b2m	DOID:0050636 - familial visceral amyloidosis|DOID:0060009 - MHC class I deficiency|DOID:0111981 - immunodeficiency 43
922495	cd79a	DOID:0081137 - agammaglobulinemia 3|DOID:2583 - agammaglobulinemia
922515	trio	DOID:0070074 - autosomal dominant intellectual developmental disorder 44
922525	vps11	DOID:0060796 - hypomyelinating leukodystrophy 12
922618	als2	DOID:0060194 - amyotrophic lateral sclerosis type 2
922649	gmppb	DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0110294 - autosomal recessive limb-girdle muscular dystrophy type 2T|DOID:0112377 - muscular dystrophy-dystroglycanopathy type B14
922836	cdon	DOID:0110877 - holoprosencephaly 11
922898	lrig2	DOID:0050816 - urofacial syndrome
922931	ntrk2	DOID:0050562 - West syndrome|DOID:0080285 - developmental and epileptic encephalopathy 58
922951	sema3e	DOID:0050834 - CHARGE syndrome|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
922975	hjv	DOID:0111027 - hemochromatosis type 2A|DOID:0111034 - hemochromatosis type 2
923000	ntrk1	DOID:0050547 - familial medullary thyroid carcinoma|DOID:0070146 - hereditary sensory neuropathy type 4
923006	musk	DOID:0110670 - congenital myasthenic syndrome 9|DOID:0110679 - congenital myasthenic syndrome 4C|DOID:0111377 - fetal akinesia deformation sequence syndrome 1
923069	ppt1	DOID:0110721 - neuronal ceroid lipofuscinosis 1
923105	elac2	DOID:0111496 - combined oxidative phosphorylation deficiency 17|DOID:10283 - prostate cancer
923292	mylkl	DOID:0060610 - megacystis-microcolon-intestinal hypoperistalsis syndrome|DOID:14004 - thoracic aortic aneurysm
923299	pxdn	DOID:0060648 - anterior segment dysgenesis|DOID:0080612 - anterior segment dysgenesis 7
923471	vps13d	DOID:0111611 - autosomal recessive spinocerebellar ataxia 4
939788	abhd5	DOID:0050729 - Chanarin-Dorfman syndrome
940048	pla2g7	DOID:2841 - asthma
940057	slc18a2	DOID:0070490 - infantile parkinsonism-dystonia 2
940090	tnfrsf11b	DOID:0081368 - Paget's disease of bone 5
940129	hcn4	DOID:0050451 - Brugada syndrome|DOID:0110225 - Brugada syndrome 8|DOID:13884 - sick sinus syndrome
940168	kcnv2	DOID:0050795 - cone dystrophy|DOID:0081022 - retinal cone dystrophy 3B
940171	mlxipl	DOID:1928 - Williams-Beuren syndrome
940177	fas	DOID:6688 - autoimmune lymphoproliferative syndrome
940348	slc34a3	DOID:0050947 - hereditary hypophosphatemic rickets with hypercalciuria
940356	asxl1	DOID:0050908 - myelodysplastic syndrome|DOID:4797 - SM-AHNMD
940479	ctsc	DOID:1474 - aggressive periodontitis|DOID:3389 - Papillon-Lefevre disease
940503	arl6	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110125 - Bardet-Biedl syndrome 3|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome
940619	evc2	DOID:0111571 - Weyers acrofacial dysostosis|DOID:12714 - Ellis-Van Creveld syndrome
940646	chrm3	DOID:0060889 - prune belly syndrome
940693	sco2	DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0080357 - mitochondrial complex IV deficiency nuclear type 2|DOID:11830 - myopia
940701	reep1	DOID:0110782 - hereditary spastic paraplegia 31|DOID:0111205 - autosomal dominant distal hereditary motor neuronopathy 12
940705	prkra	DOID:0090048 - dystonia 16
940726	scarf2	DOID:0111699 - Van den Ende-Gupta syndrome
940729	antxr2	DOID:0111669 - hyaline fibromatosis syndrome
940770	agpat2	DOID:0111135 - congenital generalized lipodystrophy type 1
940794	sgo1	DOID:0060339 - chronic atrial and intestinal dysrhythmia
941047	st3gal3	DOID:0050562 - West syndrome|DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081180 - autosomal recessive intellectual developmental disorder 12
941151	vps35	DOID:0060892 - late onset Parkinson's disease|DOID:0060897 - Parkinson's disease 17
941216	zc4h2	DOID:0060815 - Miles-Carpenter syndrome
941285	snap29	DOID:0060337 - CEDNIK syndrome
941394	hps4	DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060542 - Hermansky-Pudlak syndrome 4
941458	coq7	DOID:0070245 - primary coenzyme Q10 deficiency 8
941625	f9	DOID:0080665 - warfarin resistance|DOID:0111899 - X-linked thrombophilia due to factor IX defect|DOID:12259 - hemophilia B
941636	opa3	DOID:0110004 - 3-methylglutaconic aciduria type 3|DOID:0111433 - optic atrophy 3|DOID:5723 - optic atrophy
941643	rtn2	DOID:0110765 - hereditary spastic paraplegia 12
941706	tpmt	DOID:0080172 - poor metabolism of thiopurines
941730	atp6v1b2	DOID:0080720 - autosomal dominant congenital deafness with onychodystrophy
941759	tnfrsf10b	DOID:5520 - head and neck squamous cell carcinoma
941773	tspan7	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112024 - non-syndromic X-linked intellectual disability 58
941797	ap4s1	DOID:0110804 - hereditary spastic paraplegia 52
941817	cdin1	DOID:0111397 - congenital dyserythropoietic anemia type Ib|DOID:1338 - congenital dyserythropoietic anemia
941864	chmp4b	DOID:0110265 - cataract 31 multiple types
941922	apoa5	DOID:0111421 - familial apolipoprotein A5 deficiency|DOID:1171 - hyperlipoproteinemia type V|DOID:1172 - hyperlipoproteinemia type IV
941954	aagab	DOID:0080214 - punctate palmoplantar keratoderma type I
942055	ube2t	DOID:0111081 - Fanconi anemia complementation group T|DOID:13636 - Fanconi anemia
942222	spata7	DOID:0110331 - Leber congenital amaurosis 3|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
942248	hpgd	DOID:14283 - primary hypertrophic osteoarthropathy
942342	snx10	DOID:0110940 - autosomal recessive osteopetrosis 8
942373	mplkip	DOID:0050528 - nonphotosensitive trichothiodystrophy 4
942458	trim2	DOID:0110161 - Charcot-Marie-Tooth disease type 2R
942526	cyp27b1	DOID:0080886 - vitamin D-dependent rickets type 1A|DOID:10609 - rickets
942661	aldh3a2	DOID:14501 - Sjogren-Larsson syndrome
942770	rgs4	DOID:0070085 - schizophrenia 9
942831	ncf4	DOID:0070194 - autosomal recessive chronic granulomatous disease 3|DOID:3265 - chronic granulomatous disease
942885	myoz2	DOID:0110322 - hypertrophic cardiomyopathy 16
942944	osgep	DOID:0060364 - Galloway-Mowat syndrome 1|DOID:0080245 - Galloway-Mowat syndrome 3
942993	irf1	DOID:0080764 - hereditary diffuse gastric cancer|DOID:0090016 - chromosome 5q deletion syndrome|DOID:10534 - stomach cancer|DOID:1324 - lung cancer
943007	bcl2	DOID:0050873 - follicular lymphoma
943035	nbn	DOID:12449 - aplastic anemia|DOID:7400 - Nijmegen breakage syndrome|DOID:9952 - acute lymphoblastic leukemia
943054	me2	DOID:1827 - idiopathic generalized epilepsy
943221	etfa	DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency
943306	sgcb	DOID:0110279 - autosomal recessive limb-girdle muscular dystrophy type 2E
943337	chic2	DOID:9119 - acute myeloid leukemia
943372	txn2	DOID:0111501 - combined oxidative phosphorylation deficiency 29
943386	arl2bp	DOID:0110419 - retinitis pigmentosa with or without situs inversus|DOID:10584 - retinitis pigmentosa
943456	cfap300	DOID:0050144 - Kartagener syndrome|DOID:0111852 - primary ciliary dyskinesia 38
943467	kars1	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110204 - Charcot-Marie-Tooth disease recessive intermediate B|DOID:0110534 - autosomal recessive nonsyndromic deafness 89
943504	aass	DOID:9274 - hyperlysinemia
943549	hmbs.2	DOID:3890 - acute intermittent porphyria
943597	prkag2	DOID:0090101 - lethal congenital glycogen storage disease of heart|DOID:0110312 - hypertrophic cardiomyopathy 6|DOID:384 - Wolff-Parkinson-White syndrome
943657	optn	DOID:0060203 - amyotrophic lateral sclerosis type 12|DOID:1070 - primary open angle glaucoma|DOID:332 - amyotrophic lateral sclerosis
943668	phyh	DOID:10582 - Refsum disease
943836	tor1a	DOID:0060730 - torsion dystonia 1
943860	syp	DOID:0050776 - non-syndromic X-linked intellectual disability
944057	gpi	DOID:2861 - congenital nonspherocytic hemolytic anemia
944079	pepd	DOID:0111540 - prolidase deficiency
944115	fh	DOID:0111261 - fumarase deficiency
944134	rnaset2	DOID:0081007 - RNASET2-deficient cystic leukoencephalopathy
944208	sar1b	DOID:0060357 - chylomicron retention disease
944391	afg3l2	DOID:0050944 - spastic ataxia 5|DOID:0050977 - spinocerebellar ataxia type 28
944425	gfi1b	DOID:0111044 - gray platelet syndrome|DOID:0111049 - platelet-type bleeding disorder 17|DOID:2223 - platelet storage pool deficiency
944434	pomt1	DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0110297 - autosomal recessive limb-girdle muscular dystrophy type 2K
944496	gna11	DOID:0060701 - familial hypocalciuric hypercalcemia 2|DOID:0090108 - autosomal dominant hypocalcemia 2|DOID:0090109 - autosomal dominant hypocalcemia|DOID:6039 - uveal melanoma
944548	lyrm4	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111476 - combined oxidative phosphorylation deficiency 19
944559	fars2	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0110822 - hereditary spastic paraplegia 77|DOID:0111477 - combined oxidative phosphorylation deficiency 14
944566	atp5f1a	DOID:0060333 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4|DOID:0070462 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4B|DOID:0111143 - mitochondrial complex V (ATP synthase) deficiency|DOID:0111498 - combined oxidative phosphorylation deficiency 22
944602	nars2	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0111485 - combined oxidative phosphorylation deficiency 24
944682	tdrd7	DOID:0110247 - cataract 36
944761	cog6	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070264 - congenital disorder of glycosylation type IIl
944849	hk1	DOID:0110196 - Charcot-Marie-Tooth disease type 4G
944904	rp9	DOID:0110387 - retinitis pigmentosa 9|DOID:10584 - retinitis pigmentosa
944929	poc1b	DOID:0050572 - cone-rod dystrophy|DOID:0111026 - cone-rod dystrophy 20
944986	pcca	DOID:14701 - propionic acidemia
945025	serpinf1	DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110350 - osteogenesis imperfecta type 6
945062	pdss2	DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070238 - primary coenzyme Q10 deficiency 1|DOID:0070240 - primary coenzyme Q10 deficiency 3
945083	entpd1	DOID:0110815 - hereditary spastic paraplegia 64
945142	stxbp1	DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080436 - developmental and epileptic encephalopathy 4|DOID:2481 - infantile epileptic encephalopathy
945241	cd82	DOID:10283 - prostate cancer
945336	dpf2	DOID:0112369 - Coffin-Siris syndrome 7|DOID:1925 - Coffin-Siris syndrome
945366	pde6g	DOID:0110407 - retinitis pigmentosa 57|DOID:10584 - retinitis pigmentosa
945378	edar	DOID:0111663 - ectodermal dysplasia 10A|DOID:0111665 - ectodermal dysplasia 10B|DOID:14793 - hypohidrotic ectodermal dysplasia
945387	adam10	DOID:0060258 - reticulate acropigmentation of Kitamura|DOID:0110050 - Alzheimer's disease 18
945434	mrpl3	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111472 - combined oxidative phosphorylation deficiency 9
945585	colec10	DOID:0060225 - 3MC syndrome|DOID:0060577 - 3MC syndrome 3
945642	hspb8	DOID:0110174 - Charcot-Marie-Tooth disease axonal type 2L|DOID:0111206 - autosomal dominant distal hereditary motor neuronopathy 2
945668	atl1	DOID:0070156 - hereditary sensory neuropathy type 1D|DOID:0070162 - hereditary sensory and autonomic neuropathy type 1|DOID:0110791 - hereditary spastic paraplegia 3A
945800	gnptg	DOID:0080071 - mucolipidosis III alpha/beta|DOID:0080678 - mucolipidosis III gamma
945839	rnaseh2a	DOID:0050629 - Aicardi-Goutieres syndrome
945876	ndufs8	DOID:0060536 - mitochondrial complex I deficiency|DOID:3652 - Leigh disease
945925	coq6	DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070243 - primary coenzyme Q10 deficiency 6
945970	mhc2-dcb	DOID:7148 - rheumatoid arthritis
946064	brf1	DOID:0080898 - cerebellofaciodental syndrome
946115	coq8a	DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070238 - primary coenzyme Q10 deficiency 1|DOID:0070241 - primary coenzyme Q10 deficiency 4
946128	atad3a	DOID:0081395 - Harel-Yoon syndrome
946142	sptlc2	DOID:0070157 - hereditary sensory and autonomic neuropathy type 1C|DOID:0070162 - hereditary sensory and autonomic neuropathy type 1
946219	cd81	DOID:0081149 - common variable immunodeficiency 6|DOID:12177 - common variable immunodeficiency
946234	rspo2	DOID:0112193 - tetraamelia syndrome 2
946365	blnk	DOID:2583 - agammaglobulinemia
946379	ppp2r2b	DOID:0050962 - spinocerebellar ataxia type 12
946426	lrpap1	DOID:11830 - myopia
946481	tgds	DOID:0081122 - Catel Manzke syndrome
946569	myl3	DOID:0110314 - hypertrophic cardiomyopathy 8
946666	dnaaf11	DOID:0050144 - Kartagener syndrome|DOID:0110608 - primary ciliary dyskinesia 19
947108	ppp1r17	DOID:13810 - familial hypercholesterolemia
947113	aip	DOID:0112009 - pituitary adenoma 1|DOID:5394 - prolactinoma|DOID:6255 - growth hormone secreting pituitary adenoma|DOID:7004 - ACTH-secreting pituitary adenoma
947125	pgk1	DOID:0111933 - phosphoglycerate kinase 1 deficiency
947166	akr1d1	DOID:0111069 - congenital bile acid synthesis defect 2
947202	capn5	DOID:9719 - neovascular inflammatory vitreoretinopathy
947216	pgap3	DOID:0070436 - hyperphosphatasia with impaired intellectual development syndrome 4
947315	gc	DOID:12361 - Graves' disease|DOID:7997 - thyrotoxicosis
947328	spint2	DOID:0060781 - congenital secretory sodium diarrhea 3
947349	dcps	DOID:0060308 - autosomal recessive intellectual developmental disorder
947406	tubb4a	DOID:0060798 - hypomyelinating leukodystrophy 6|DOID:0090041 - torsion dystonia 4
947418	ndufs4	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease
947452	p2ry12	DOID:0060692 - platelet-type bleeding disorder 8
947461	gamt	DOID:0050799 - guanidinoacetate methyltransferase deficiency
947504	btbd9	DOID:0050425 - restless legs syndrome
947543	ephx2	DOID:13810 - familial hypercholesterolemia
947643	stxbp2	DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1|DOID:0110925 - familial hemophagocytic lymphohistiocytosis 5
947652	pigp	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080283 - developmental and epileptic encephalopathy 55
947684	slc45a2	DOID:0050632 - oculocutaneous albinism|DOID:0070098 - oculocutaneous albinism type IV
947773	gnas	DOID:0080053 - Albright's hereditary osteodystrophy|DOID:0080222 - pseudohypoparathyroidism type IB|DOID:0111535 - progressive osseous heteroplasia|DOID:0111623 - ACTH-independent macronodular adrenal hyperplasia 1|DOID:0112009 - pituitary adenoma 1|DOID:0112010 - pituitary adenoma 3|DOID:1858 - McCune Albright syndrome|DOID:4183 - pseudopseudohypoparathyroidism|DOID:4184 - pseudohypoparathyroidism|DOID:6255 - growth hormone secreting pituitary adenoma|DOID:7004 - ACTH-secreting pituitary adenoma
947838	spast	DOID:0110792 - hereditary spastic paraplegia 4
947912	ergic1	DOID:0090124 - neurogenic-type arthrogryposis multiplex congenita-2
947968	stim1	DOID:0060354 - Stormorken syndrome|DOID:0080089 - tubular aggregate myopathy 1|DOID:0111970 - immunodeficiency 10
948021	scarb2	DOID:0111444 - progressive myoclonus epilepsy 4|DOID:3535 - Unverricht-Lundborg syndrome|DOID:891 - progressive myoclonus epilepsy
948071	tkt	DOID:10915 - Wernicke-Korsakoff syndrome
948100	folr1	DOID:0050719 - cerebral folate receptor alpha deficiency
948145	ndufa2	DOID:3652 - Leigh disease
948282	bsnd	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110145 - Bartter disease type 4a
948373	gnpat	DOID:0110852 - rhizomelic chondrodysplasia punctata type 2
948442	serpini1	DOID:0050831 - familial encephalopathy with neuroserpin inclusion bodies
948464	pld1	DOID:0080633 - developmental cardiac valvular defect
948492	urod	DOID:3132 - porphyria cutanea tarda|DOID:5230 - hepatoerythropoietic porphyria
948526	pgm1	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080570 - congenital disorder of glycosylation It
948556	ube3a	DOID:1932 - Angelman syndrome
948567	cnga3	DOID:0050572 - cone-rod dystrophy|DOID:0110007 - achromatopsia 2|DOID:13911 - achromatopsia
948574	bcl10	DOID:0050909 - extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|DOID:0060060 - non-Hodgkin lymphoma|DOID:0111939 - immunodeficiency 37|DOID:1790 - malignant mesothelioma|DOID:2998 - testicular cancer|DOID:4440 - seminoma|DOID:5557 - testicular germ cell cancer
948669	usb1	DOID:0060551 - poikiloderma with neutropenia|DOID:2729 - dyskeratosis congenita
948679	coq9	DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070242 - primary coenzyme Q10 deficiency 5
948742	sncaip	DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease
948768	snap25	DOID:0110683 - congenital myasthenic syndrome 18
948819	chmp2b	DOID:0060208 - amyotrophic lateral sclerosis type 17|DOID:0111227 - frontotemporal dementia and/or amyotrophic lateral sclerosis 7|DOID:332 - amyotrophic lateral sclerosis|DOID:9255 - frontotemporal dementia
948845	xiap	DOID:0060705 - X-linked lymphoproliferative syndrome 1|DOID:0060706 - X-linked lymphoproliferative syndrome 2
948858	zdhhc15	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112043 - non-syndromic X-linked intellectual disability 91
948933	tango2	DOID:0081386 - TANGO2-related metabolic encephalopathy and arrythmias
948946	comt	DOID:5419 - schizophrenia|DOID:594 - panic disorder
948991	ggt1	DOID:0111257 - gamma-glutamyl transpeptidase deficiency
949065	pibf1	DOID:0050777 - Joubert syndrome|DOID:0080279 - Joubert syndrome 33
949108	scnn1b	DOID:0050477 - Liddle syndrome|DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1|DOID:9563 - bronchiectasis
949135	ndufa10	DOID:3652 - Leigh disease
949305	ap4b1	DOID:0110799 - hereditary spastic paraplegia 47
949326	grin2b	DOID:0050562 - West syndrome|DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070036 - autosomal dominant intellectual developmental disorder 6|DOID:0080444 - developmental and epileptic encephalopathy 27
949344	cdc73	DOID:13543 - hyperparathyroidism|DOID:1540 - parathyroid carcinoma
949356	gpsm2	DOID:0050565 - autosomal recessive nonsyndromic deafness
949373	grm6	DOID:0050534 - congenital stationary night blindness|DOID:0110865 - congenital stationary night blindness 1B
949398	xylt1	DOID:0060462 - Desbuquois dysplasia|DOID:2738 - pseudoxanthoma elasticum
949441	plin1	DOID:0050440 - familial partial lipodystrophy|DOID:0070205 - familial partial lipodystrophy type 4
949448	strc	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0070173 - spermatogenic failure 7|DOID:0110471 - autosomal recessive nonsyndromic deafness 16|DOID:14227 - azoospermia
949451	sstr5	DOID:0112009 - pituitary adenoma 1|DOID:6255 - growth hormone secreting pituitary adenoma
949517	sgcd	DOID:0110280 - autosomal recessive limb-girdle muscular dystrophy type 2F|DOID:0110436 - dilated cardiomyopathy 1L
949550	ndufa9	DOID:3652 - Leigh disease
949569	ttc7a	DOID:14671 - multiple intestinal atresia
949714	ggcx	DOID:0112173 - combined deficiency of vitamin K-dependent clotting factors 1
949772	arhgef6	DOID:0050776 - non-syndromic X-linked intellectual disability
949778	eml1	DOID:0111169 - subcortical band heterotopia
949791	ercc2	DOID:0050427 - xeroderma pigmentosum|DOID:0080912 - cerebrooculofacioskeletal syndrome 2|DOID:0110845 - xeroderma pigmentosum group D|DOID:0111873 - photosensitive trichothiodystrophy 1|DOID:2960 - photosensitive trichothiodystrophy
949800	dmpk	DOID:11722 - myotonic dystrophy type 1
949876	ikbkb	DOID:0111959 - immunodeficiency 15B
949923	nyx	DOID:0050534 - congenital stationary night blindness|DOID:0110870 - congenital stationary night blindness 1A
949930	clcn4	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112060 - Raynaud-Claes syndrome
950016	ahcy	DOID:0111039 - hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
950049	mpzl2	DOID:0050565 - autosomal recessive nonsyndromic deafness
950077	ppp2r1b	DOID:1324 - lung cancer
950134	plpbp	DOID:0080769 - early-onset vitamin B6-dependent epilepsy 1
950143	erlin2	DOID:0110771 - hereditary spastic paraplegia 18
950250	arf1	DOID:0050454 - periventricular nodular heterotopia
950264	hcn1	DOID:0060170 - generalized epilepsy with febrile seizures plus
950278	klhdc8b	DOID:8567 - Hodgkin's lymphoma
950296	cpox	DOID:13269 - hereditary coproporphyria
950362	cog5	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070261 - congenital disorder of glycosylation type IIi
950379	slc26a4.3	DOID:0050332 - enlarged vestibular aqueduct|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4
950441	ptpn1	DOID:9352 - type 2 diabetes mellitus
950489	slc2a10	DOID:0050645 - arterial tortuosity syndrome
950500	ada	DOID:0060010 - Omenn syndrome|DOID:5810 - adenosine deaminase deficiency
950567	tdp1	DOID:0090115 - spinocerebellar ataxia with axonal neuropathy 1
950678	mlf1	DOID:9119 - acute myeloid leukemia
950695	gmps	DOID:9119 - acute myeloid leukemia
950719	dnah11	DOID:0050144 - Kartagener syndrome|DOID:0110605 - primary ciliary dyskinesia 7
950754	chd2	DOID:0050561 - Lennox-Gastaut syndrome|DOID:0060475 - myoclonic-atonic epilepsy|DOID:0081325 - developmental and epileptic encephalopathy 94
950761	agbl1	DOID:11555 - Fuchs' endothelial dystrophy
950816	sag	DOID:0110369 - retinitis pigmentosa 47|DOID:0110712 - Oguchi disease-1|DOID:10584 - retinitis pigmentosa
950838	agxt	DOID:0111670 - primary hyperoxaluria type 1
950873	chn1	DOID:12557 - Duane retraction syndrome
950908	adcy1	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110501 - autosomal recessive nonsyndromic deafness 44
950953	cnga1	DOID:0110377 - retinitis pigmentosa 49|DOID:10584 - retinitis pigmentosa
951019	lrba	DOID:0081151 - common variable immunodeficiency 8|DOID:12177 - common variable immunodeficiency
951075	cdkl5	DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080467 - developmental and epileptic encephalopathy 2|DOID:1206 - Rett syndrome
951193	polr3h	DOID:14450 - 46 XX gonadal dysgenesis
951258	gorab	DOID:0111266 - geroderma osteodysplasticum
951277	hccs	DOID:0111808 - linear skin defects with multiple congenital anomalies 1|DOID:10629 - microphthalmia
951349	ywhag	DOID:0080282 - developmental and epileptic encephalopathy 56
951362	por	DOID:0050462 - Antley-Bixler syndrome with disordered steroidogenesis|DOID:0080925 - cytochrome P450 oxidoreductase deficiency|DOID:0081290 - Antley-Bixler syndrome without disordered steroidogenesis
951381	tbx4	DOID:0111382 - ischiocoxopodopatellar syndrome
951459	cyp1b1	DOID:0060673 - Peters anomaly|DOID:0080610 - anterior segment dysgenesis 5|DOID:0080611 - anterior segment dysgenesis 6|DOID:1067 - open-angle glaucoma|DOID:1068 - juvenile glaucoma|DOID:1070 - primary open angle glaucoma|DOID:11211 - buphthalmos
951522	pnkd	DOID:0090049 - paroxysmal nonkinesigenic dyskinesia 1
951529	dnajb2	DOID:0110160 - Charcot-Marie-Tooth disease axonal type 2T|DOID:0111214 - autosomal recessive distal hereditary motor neuronopathy 5
951544	lpl	DOID:13809 - familial combined hyperlipidemia|DOID:14118 - familial lipoprotein lipase deficiency
951560	sh3gl1	DOID:9119 - acute myeloid leukemia
951582	b3glct	DOID:0080201 - Peters plus syndrome
951632	lpp	DOID:9119 - acute myeloid leukemia
951704	pigc	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081223 - glycosylphosphatidylinositol biosynthesis defect 16
951754	kif2a	DOID:0090134 - complex cortical dysplasia with other brain malformations 3
951822	egf	DOID:0060882 - renal hypomagnesemia 4
952013	stx11	DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1|DOID:0110924 - familial hemophagocytic lymphohistiocytosis 4
952038	kcnk9	DOID:0050675 - Birk-Barel syndrome
952068	slc39a5	DOID:11830 - myopia
952101	aff2	DOID:0080984 - X-linked intellectual developmental disorder 109
952106	bbs4	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110126 - Bardet-Biedl syndrome 4|DOID:1935 - Bardet-Biedl syndrome
952134	calcr	DOID:11476 - osteoporosis
952209	gucy2c	DOID:0060780 - congenital diarrhea 6
952285	cenpe	DOID:0050569 - Seckel syndrome
952295	bank1	DOID:9074 - systemic lupus erythematosus
952298	ppp3ca	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080472 - developmental and epileptic encephalopathy 91
952345	elovl5	DOID:0050985 - spinocerebellar ataxia type 38
952371	taf1	DOID:0090057 - X-linked dystonia-parkinsonism
952393	yap1	DOID:0111249 - uveal coloboma-cleft lip and palate-intellectual disability
952430	plcg2	DOID:0090064 - familial cold autoinflammatory syndrome 3
952451	atp6ap1	DOID:0112002 - immunodeficiency 47
952498	dpagt1	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080562 - congenital disorder of glycosylation Ij|DOID:0110676 - congenital myasthenic syndrome 13
952505	colec11	DOID:0060225 - 3MC syndrome|DOID:0060576 - 3MC syndrome 2
952521	slmap	DOID:0050451 - Brugada syndrome
952547	cep63	DOID:0070006 - Seckel syndrome 6
952585	sucla2	DOID:0080120 - mitochondrial DNA depletion syndrome 2|DOID:0080121 - mitochondrial DNA depletion syndrome 3|DOID:0080124 - mitochondrial DNA depletion syndrome 5
952650	cln8	DOID:0110723 - neuronal ceroid lipofuscinosis 8|DOID:0110724 - neuronal ceroid lipofuscinosis 8 northern epilepsy variant
952668	pdha1	DOID:3649 - pyruvate decarboxylase deficiency
952752	dclre1c	DOID:0060006 - artemis deficiency|DOID:0060010 - Omenn syndrome|DOID:0090012 - severe combined immunodeficiency with sensitivity to ionizing radiation
952813	prnp	DOID:0050433 - fatal familial insomnia|DOID:0090103 - Huntington's disease-like 1|DOID:11949 - Creutzfeldt-Jakob disease|DOID:4249 - Gerstmann-Straussler-Scheinker syndrome
952838	cep83	DOID:0111124 - nephronophthisis 16|DOID:0111125 - nephronophthisis 18
952865	pc	DOID:3651 - pyruvate carboxylase deficiency disease
952912	nrxn1	DOID:0111332 - Pitt-Hopkins-like syndrome 2|DOID:12849 - autistic disorder
952971	minpp1	DOID:3962 - follicular thyroid carcinoma
952976	lipa	DOID:0080217 - lysosomal acid lipase deficiency|DOID:14497 - Wolman disease|DOID:14502 - cholesterol ester storage disease
953026	dync2i2	DOID:0110095 - short-rib thoracic dysplasia 11 with or without polydactyly
953035	abcd1	DOID:10588 - adrenoleukodystrophy
953086	manf	DOID:4905 - pancreatic carcinoma
953256	slc19a2	DOID:0090117 - thiamine-responsive megaloblastic anemia syndrome
953315	psph	DOID:0050724 - PSPH deficiency
953337	sdccag8	DOID:0050576 - Senior-Loken syndrome|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110138 - Bardet-Biedl syndrome 16|DOID:1935 - Bardet-Biedl syndrome
953407	grhpr	DOID:0111671 - primary hyperoxaluria type 2|DOID:2977 - primary hyperoxaluria
953463	micu1	DOID:0111335 - myopathy with extrapyramidal signs
953523	mbtps2	DOID:0080754 - X-linked keratosis follicularis spinulosa decalvans|DOID:0111821 - ichthyosis follicularis-alopecia-photophobia syndrome 1|DOID:0111847 - osteogenesis imperfecta type 19|DOID:0112012 - X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
953533	sms	DOID:0050888 - syndromic intellectual disability|DOID:0060802 - syndromic X-linked intellectual disability Snyder type
953546	ak7	DOID:0111928 - spermatogenic failure 27
953634	fbxo31	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081209 - autosomal recessive intellectual developmental disorder 45
953675	ca8	DOID:0050997 - cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
953692	ttpa	DOID:0090028 - familial isolated deficiency of vitamin E
953728	prdm12	DOID:0070153 - hereditary sensory and autonomic neuropathy type 8
953768	elovl4	DOID:0050817 - Stargardt disease|DOID:0050981 - spinocerebellar ataxia type 34
953784	bckdhb	DOID:9269 - maple syrup urine disease
953834	abcb1	DOID:0110893 - inflammatory bowel disease 13
953844	hs6st1	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090075 - hypogonadotropic hypogonadism 15 with or without anosmia|DOID:3614 - Kallmann syndrome
953877	lama2	DOID:0110636 - congenital merosin-deficient muscular dystrophy 1A
953894	cyp19a1	DOID:0090122 - aromatase excess syndrome
953966	agrn	DOID:0110657 - congenital myasthenic syndrome 8
954174	pex10	DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
954189	fbn1	DOID:0050475 - Weill-Marchesani syndrome|DOID:0111148 - isolated ectopia lentis|DOID:0111150 - autosomal dominant isolated ectopia lentis 1|DOID:0111243 - acromicric dysplasia|DOID:0111561 - stiff skin syndrome|DOID:0111726 - geleophysic dysplasia 2|DOID:14323 - Marfan syndrome|DOID:2340 - craniosynostosis
954236	wars1	DOID:0111212 - autosomal dominant distal hereditary motor neuronopathy 9
954250	nin	DOID:0070011 - Seckel syndrome 7
954260	ldlrap1	DOID:0090105 - autosomal recessive hypercholesterolemia
954284	zmpste24	DOID:0060762 - restrictive dermopathy|DOID:0070369 - restrictive dermopathy 1|DOID:0081129 - mandibuloacral dysplasia type B lipodystrophy|DOID:3911 - progeria
954329	sp7	DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110348 - osteogenesis imperfecta type 12
954343	neb	DOID:0110928 - nemaline myopathy 2
954413	galnt3	DOID:0111063 - hyperphosphatemic familial tumoral calcinosis
954419	letm1	DOID:0050460 - Wolf-Hirschhorn syndrome
954585	tor1aip1	DOID:0110289 - autosomal recessive limb-girdle muscular dystrophy type 2Y
954595	bbs9	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110131 - Bardet-Biedl syndrome 9|DOID:1935 - Bardet-Biedl syndrome
954607	cox10	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3652 - Leigh disease|DOID:3762 - cytochrome-c oxidase deficiency disease
954658	cldn19	DOID:0060881 - renal hypomagnesemia 5 with ocular involvement
954752	jph1	DOID:0110167 - Charcot-Marie-Tooth disease axonal type 2K
954849	lrmda	DOID:0070100 - oculocutaneous albinism type VII
954871	foxn1	DOID:0060769 - T-cell immunodeficiency, congenital alopecia, and nail dystrophy
954876	unc119	DOID:0050572 - cone-rod dystrophy|DOID:0111987 - immunodeficiency 13
954917	lgi1	DOID:0060748 - familial temporal lobe epilepsy 1|DOID:3070 - high grade glioma
954957	pex3	DOID:905 - Zellweger syndrome
955008	opn1lw	DOID:0050572 - cone-rod dystrophy|DOID:0050679 - blue cone monochromacy|DOID:13910 - red color blindness
955027	emd	DOID:11726 - Emery-Dreifuss muscular dystrophy
955037	grid2	DOID:0080042 - autosomal recessive spinocerebellar ataxia 18
955040	picalml	DOID:9119 - acute myeloid leukemia
955051	ndst1	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081210 - autosomal recessive intellectual developmental disorder 46
955076	ncstn	DOID:2280 - hidradenitis suppurativa
955105	st3gal5	DOID:0060470 - salt and pepper syndrome
955122	pdhx	DOID:3649 - pyruvate decarboxylase deficiency
955228	agrp	DOID:9970 - obesity
955278	stk11	DOID:2998 - testicular cancer|DOID:3852 - Peutz-Jeghers syndrome|DOID:4440 - seminoma|DOID:4905 - pancreatic carcinoma|DOID:5557 - testicular germ cell cancer
955301	pygm	DOID:2746 - glycogen storage disease V
955317	slc45a1	DOID:0060308 - autosomal recessive intellectual developmental disorder
955413	plod1	DOID:13359 - Ehlers-Danlos syndrome
955440	scn3b	DOID:0050451 - Brugada syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0110224 - Brugada syndrome 7
955451	tbk1	DOID:0110069 - frontotemporal dementia and/or amyotrophic lateral sclerosis 4
955477	cog8	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070260 - congenital disorder of glycosylation type IIh
955546	lipc	DOID:9352 - type 2 diabetes mellitus
955553	bdnf	DOID:0060731 - congenital central hypoventilation syndrome|DOID:12129 - bulimia nervosa
955608	hpd	DOID:0050727 - tyrosinemia type III|DOID:0111362 - hawkinsinuria
955640	myot	DOID:0080091 - obsolete spheroid body myopathy|DOID:0080094 - myofibrillar myopathy 3|DOID:0110300 - autosomal dominant limb-girdle muscular dystrophy type 1A
955660	uba5	DOID:0080424 - developmental and epileptic encephalopathy 44|DOID:0111615 - autosomal recessive spinocerebellar ataxia 24
955753	ano10	DOID:0050999 - autosomal recessive spinocerebellar ataxia 10
955797	gjb2	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0050566 - X-linked nonsyndromic deafness|DOID:0050658 - Bart-Pumphrey syndrome|DOID:0060871 - autosomal dominant keratitis-ichthyosis-deafness syndrome|DOID:0110475 - autosomal recessive nonsyndromic deafness 1A|DOID:0110564 - autosomal dominant nonsyndromic deafness 3A|DOID:0111339 - Vohwinkel syndrome|DOID:0111505 - palmoplantar keratoderma-deafness syndrome|DOID:0111737 - X-linked deafness 2|DOID:10003 - sensorineural hearing loss
955838	pnpo	DOID:0111329 - pyridoxamine 5'-phosphate oxidase deficiency
955965	rars1	DOID:0060791 - hypomyelinating leukodystrophy 9
956060	gcsh	DOID:9268 - glycine encephalopathy
956080	kcnk3	DOID:14557 - primary pulmonary hypertension
956097	etfb	DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency
956110	taok1	DOID:0060307 - autosomal dominant intellectual developmental disorder
956127	cryba1	DOID:0110258 - cataract 10 multiple types
956204	lars2	DOID:0050857 - Perrault syndrome
956214	ezh2	DOID:14731 - Weaver syndrome
956229	cntnap2	DOID:0090130 - cortical dysplasia-focal epilepsy syndrome
956282	atxn7	DOID:0050958 - spinocerebellar ataxia type 7
956329	synj1	DOID:0060898 - Parkinson's disease 20|DOID:0080464 - developmental and epileptic encephalopathy 53
956337	ripply2	DOID:0112360 - spondylocostal dysostosis 6
956381	znf711	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112046 - non-syndromic X-linked intellectual disability 97
956388	chm	DOID:9821 - choroideremia
956408	zap70	DOID:0111943 - immunodeficiency 48
956422	sgcg	DOID:0110277 - autosomal recessive limb-girdle muscular dystrophy type 2C
956544	ppm1k	DOID:9269 - maple syrup urine disease
956597	ndufb9	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
956630	bscl2	DOID:0110770 - hereditary spastic paraplegia 17|DOID:0111136 - congenital generalized lipodystrophy type 2|DOID:0111203 - autosomal dominant distal hereditary motor neuronopathy 5|DOID:0111204 - obsolete distal hereditary motor neuronopathy type 5A
956687	arl3	DOID:0050777 - Joubert syndrome|DOID:10584 - retinitis pigmentosa
956709	cnnm4	DOID:0111404 - Jalili syndrome
956712	gnb3	DOID:0050534 - congenital stationary night blindness|DOID:0110866 - congenital stationary night blindness 1H|DOID:10825 - essential hypertension
956766	coq8b	DOID:1184 - nephrotic syndrome
956773	cyp2a6.13	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
956799	xdh	DOID:0060236 - xanthinuria|DOID:0070452 - xanthinuria type I
956857	klf11	DOID:0050524 - maturity-onset diabetes of the young|DOID:0111106 - maturity-onset diabetes of the young type 7
956941	sdha	DOID:0050773 - paraganglioma|DOID:0060537 - mitochondrial complex II deficiency|DOID:0110435 - dilated cardiomyopathy 1GG|DOID:3652 - Leigh disease|DOID:9253 - gastrointestinal stromal tumor
957006	cubn	DOID:13382 - megaloblastic anemia
957018	adam22	DOID:0080434 - developmental and epileptic encephalopathy 61
957162	emp2	DOID:1184 - nephrotic syndrome
957261	lins1	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081193 - autosomal recessive intellectual developmental disorder 27
957266	cers3	DOID:0060718 - autosomal recessive congenital ichthyosis 9|DOID:1699 - congenital ichthyosiform erythroderma
957296	ush2a	DOID:0110360 - retinitis pigmentosa 39|DOID:0110827 - Usher syndrome type 2|DOID:0110838 - Usher syndrome type 2A|DOID:10584 - retinitis pigmentosa
957336	col25a1	DOID:0060261 - congenital ptosis|DOID:0081020 - congenital fibrosis of the extraocular muscles 5|DOID:12557 - Duane retraction syndrome
957339	ccdc28b	DOID:0110123 - Bardet-Biedl syndrome 1
957400	pum1	DOID:0111743 - cerebellar ataxia type 47
957431	ctps1	DOID:0111938 - immunodeficiency 24
957444	pth1r	DOID:0060387 - chondrodysplasia Blomstrand type|DOID:0080020 - Jansen's metaphyseal chondrodysplasia|DOID:0111341 - primary failure of tooth eruption|DOID:0111732 - Eiken syndrome|DOID:4624 - Ollier disease
957447	impdh1	DOID:0110216 - Leber congenital amaurosis 11|DOID:0110388 - retinitis pigmentosa 10|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
957493	abat	DOID:0060174 - GABA aminotransferase deficiency
957547	trmt5	DOID:0111490 - combined oxidative phosphorylation deficiency 26
957582	smc3	DOID:11725 - Cornelia de Lange syndrome
957612	cdh23	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110467 - autosomal recessive nonsyndromic deafness 12|DOID:0110826 - Usher syndrome type 1|DOID:0110831 - Usher syndrome type 1D|DOID:0112008 - pituitary adenoma 5
957672	zfhx4	DOID:0060261 - congenital ptosis
957683	g6pd	DOID:2861 - congenital nonspherocytic hemolytic anemia
957702	huwe1	DOID:0060810 - syndromic X-linked intellectual disability type 10|DOID:0060811 - syndromic X-linked intellectual disability Turner type
957719	itk	DOID:0060707 - lymphoproliferative syndrome 1
957741	bloc1s6	DOID:0060547 - Hermansky-Pudlak syndrome 9
957774	hoga1	DOID:0111672 - primary hyperoxaluria type 3|DOID:2977 - primary hyperoxaluria
957955	mre11	DOID:0081384 - ataxia-telangiectasia-like disorder-1
958126	slc30a8	DOID:9352 - type 2 diabetes mellitus
958153	clic5	DOID:0050565 - autosomal recessive nonsyndromic deafness
958178	trpm6	DOID:0060883 - intestinal hypomagnesemia 1
958328	tph2	DOID:1595 - melancholic depression
958407	kcnc3	DOID:0050963 - spinocerebellar ataxia type 13
958441	aimp1	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0060790 - hypomyelinating leukodystrophy 3
958504	map3k8	DOID:1324 - lung cancer
958511	mtpap	DOID:0050943 - spastic ataxia 4
958576	anxa11	DOID:0080225 - amyotrophic lateral sclerosis type 23|DOID:332 - amyotrophic lateral sclerosis
958590	pcm1	DOID:3969 - papillary thyroid carcinoma
958697	man2b1	DOID:3413 - alpha-mannosidosis
958718	acadl	DOID:0080155 - very long chain acyl-CoA dehydrogenase deficiency
958769	agbl5	DOID:0110361 - retinitis pigmentosa 75|DOID:10584 - retinitis pigmentosa
958812	wars2	DOID:0060308 - autosomal recessive intellectual developmental disorder
958854	rogdi	DOID:0111668 - Kohlschutter-Tonz syndrome
958955	emg1	DOID:0050684 - Bowen-Conradi syndrome
959027	neu1	DOID:3343 - glycoproteinosis
959053	pthlh	DOID:0110976 - brachydactyly type E2
959218	hadha	DOID:0111277 - mitochondrial trifunctional protein deficiency
959236	syn2	DOID:5419 - schizophrenia
959256	dnm2	DOID:0110197 - Charcot-Marie-Tooth disease dominant intermediate B|DOID:14717 - centronuclear myopathy
959301	cyb5a	DOID:0112316 - methemoglobinemia and ambiguous genitalia
959375	pick1	DOID:0111156 - spermatogenic failure 9
959402	pnpla6	DOID:0110790 - hereditary spastic paraplegia 39|DOID:0111265 - Boucher-Neuhauser syndrome|DOID:0111271 - Oliver-McFarlane syndrome|DOID:1930 - Laurence-Moon syndrome
959414	cyba	DOID:0070193 - autosomal recessive chronic granulomatous disease 4|DOID:3265 - chronic granulomatous disease
959459	aldh4a1	DOID:0080543 - hyperprolinemia type 2
959468	eps15l1	DOID:0090020 - split hand-foot malformation
959494	dbh	DOID:0060892 - late onset Parkinson's disease|DOID:0090145 - dopamine beta-hydroxylase deficiency|DOID:14330 - Parkinson's disease
959497	yars2	DOID:0080099 - myopathy, lactic acidosis, and sideroblastic anemia
959528	dnmt3a	DOID:0112339 - Tatton-Brown-Rahman syndrome|DOID:9119 - acute myeloid leukemia
959580	dnaaf4	DOID:0050144 - Kartagener syndrome|DOID:0110615 - primary ciliary dyskinesia 25
959677	atxn10	DOID:0050960 - spinocerebellar ataxia type 10
959855	pomgnt1	DOID:0050560 - Walker-Warburg syndrome|DOID:0110292 - autosomal recessive limb-girdle muscular dystrophy type 2O|DOID:0112378 - muscular dystrophy-dystroglycanopathy type B3|DOID:10584 - retinitis pigmentosa
959866	sf3b1	DOID:0050908 - myelodysplastic syndrome
959880	pms1	DOID:3883 - Lynch syndrome
959926	dpys	DOID:0111629 - dihydropyrimidinase deficiency
960068	cln5	DOID:0110728 - neuronal ceroid lipofuscinosis 5
960100	naa15	DOID:0080233 - autosomal dominant intellectual developmental disorder 50
960118	ung	DOID:0060759 - immunodeficiency with hyper IgM type 5
960227	hspa9	DOID:0060335 - autosomal dominant sideroblastic anemia 4
960249	rpl15	DOID:0111882 - Diamond-Blackfan anemia 12|DOID:1339 - Diamond-Blackfan anemia
960266	tmem127	DOID:0050771 - pheochromocytoma
960285	gnrh1	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090072 - hypogonadotropic hypogonadism 12 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
960303	mmp21	DOID:758 - situs inversus
960310	lzts1	DOID:5041 - esophageal cancer
960315	kdm6a	DOID:0060473 - Kabuki syndrome
960364	ing1	DOID:0050866 - oral squamous cell carcinoma|DOID:2876 - laryngeal squamous cell carcinoma|DOID:5520 - head and neck squamous cell carcinoma
960379	ercc5	DOID:0050427 - xeroderma pigmentosum|DOID:0080913 - cerebrooculofacioskeletal syndrome 3|DOID:0110849 - xeroderma pigmentosum group G
960431	itgb6	DOID:0110055 - amelogenesis imperfecta type 3A|DOID:0110064 - amelogenesis imperfecta type 1H
960469	kif1a	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070039 - NESCAV syndrome|DOID:0070147 - hereditary sensory neuropathy type 2C|DOID:0070161 - hereditary sensory and autonomic neuropathy type 2|DOID:0110781 - hereditary spastic paraplegia 30
960490	hsd11b1	DOID:0090139 - cortisone reductase deficiency|DOID:0090140 - cortisone reductase deficiency 2|DOID:0090141 - cortisone reductase deficiency 1
960508	rp1l1	DOID:0050578 - occult macular dystrophy
960511	b4galnt1	DOID:0110777 - hereditary spastic paraplegia 26
960552	gfi1	DOID:0050590 - severe congenital neutropenia|DOID:0080625 - severe congenital neutropenia 1|DOID:0112131 - severe congenital neutropenia 2
960555	tfg	DOID:0050539 - Charcot-Marie-Tooth disease type 2|DOID:0110809 - hereditary spastic paraplegia 57|DOID:4549 - extraskeletal myxoid chondrosarcoma|DOID:6496 - obsolete extraskeletal myxoid chondrosarcoma
960571	gas2l2	DOID:0050144 - Kartagener syndrome|DOID:0110594 - primary ciliary dyskinesia 1|DOID:9562 - primary ciliary dyskinesia
960581	espn	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110494 - autosomal recessive nonsyndromic deafness 36
960607	znf408	DOID:0050535 - exudative vitreoretinopathy|DOID:0110395 - retinitis pigmentosa 72|DOID:0111410 - exudative vitreoretinopathy 6|DOID:10584 - retinitis pigmentosa
960624	cdc14a	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110491 - autosomal recessive nonsyndromic deafness 32
960698	slc12a6	DOID:0060600 - hereditary motor and sensory neuropathy with agenesis of the corpus callosum|DOID:0090003 - agenesis of the corpus callosum with peripheral neuropathy|DOID:0111750 - adult-onset ataxia and polyneuropathy
960721	mc4r	DOID:9970 - obesity
960724	pign	DOID:0080138 - multiple congenital anomalies-hypotonia-seizures syndrome 1
960753	fech	DOID:13270 - erythropoietic protoporphyria
960778	cyp11a1	DOID:0050546 - congenital adrenal insufficiency|DOID:0050811 - congenital adrenal hyperplasia
960788	pstpip1	DOID:0080519 - PAPA syndrome
960793	agps	DOID:0110853 - rhizomelic chondrodysplasia punctata type 3
960802	wipf1	DOID:9169 - Wiskott-Aldrich syndrome
960841	trpm4	DOID:0050451 - Brugada syndrome|DOID:0050467 - erythrokeratodermia variabilis|DOID:0111073 - progressive familial heart block|DOID:0111076 - progressive familial heart block type IB
960884	chst6	DOID:2565 - macular corneal dystrophy
960938	zmynd11	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070060 - autosomal dominant intellectual developmental disorder 30
960956	atp6v0a2	DOID:0070134 - autosomal recessive cutis laxa type IIA|DOID:0070136 - autosomal dominant cutis laxa 2|DOID:0112171 - wrinkly skin syndrome|DOID:3144 - cutis laxa
960984	cpa6	DOID:0060752 - familial temporal lobe epilepsy 5|DOID:0111308 - familial febrile seizures 11
960991	srp54	DOID:0060479 - Shwachman-Diamond syndrome|DOID:0080023 - obsolete Shwachman-Diamond type metaphyseal dysplasia
961018	pde6b	DOID:0050534 - congenital stationary night blindness|DOID:0110375 - retinitis pigmentosa 40|DOID:0110863 - congenital stationary night blindness autosomal dominant 2|DOID:10584 - retinitis pigmentosa
961069	zmynd10	DOID:0050144 - Kartagener syndrome|DOID:0110597 - primary ciliary dyskinesia 22
961196	col8a2	DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1|DOID:0110856 - posterior polymorphous corneal dystrophy 2|DOID:11555 - Fuchs' endothelial dystrophy
961230	ndufs1	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
961346	reep2	DOID:0110817 - hereditary spastic paraplegia 72A
961356	ddhd1	DOID:0110779 - hereditary spastic paraplegia 28
961364	gch1	DOID:0090043 - dopa-responsive dystonia|DOID:0112225 - BH4-deficient hyperphenylalaninemia B
961408	rp2	DOID:0110415 - retinitis pigmentosa 2|DOID:10584 - retinitis pigmentosa
961418	nipa1	DOID:0110811 - hereditary spastic paraplegia 6
961433	eif2b3	DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1
961469	slc46a1	DOID:0111678 - hereditary folate malabsorption
961504	cep104	DOID:0050777 - Joubert syndrome|DOID:0110994 - Joubert syndrome 25
961512	fbxl4	DOID:0080131 - mitochondrial DNA depletion syndrome 13
961534	slc5a7	DOID:0110661 - congenital myasthenic syndrome 20|DOID:0111199 - autosomal dominant distal hereditary motor neuronopathy 7
961540	gk	DOID:0060363 - glycerol kinase deficiency
961571	bfsp2	DOID:0110235 - cataract 2 multiple types|DOID:0110239 - cataract 12 multiple types|DOID:0110266 - cataract 9 multiple types
961628	cplane1	DOID:0050777 - Joubert syndrome|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0110980 - Joubert syndrome 1|DOID:0110986 - Joubert syndrome 17
961648	tmem43	DOID:0070252 - autosomal dominant Emery-Dreifuss muscular dystrophy 7|DOID:0110074 - arrhythmogenic right ventricular dysplasia 5
961654	uroc1	DOID:0112180 - urocanase deficiency
961669	ppp1cb	DOID:0080693 - Noonan syndrome-like disorder with loose anagen hair 2
961681	vps45	DOID:0050590 - severe congenital neutropenia|DOID:0112132 - severe congenital neutropenia 5
961722	adamts10	DOID:0050475 - Weill-Marchesani syndrome
961744	foxp1	DOID:0111331 - intellectual disability-severe speech delay-mild dysmorphism syndrome
961763	pak3	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112051 - non-syndromic X-linked intellectual disability 30
961824	itga8	DOID:0080200 - bilateral renal aplasia|DOID:14766 - renal agenesis
961882	chsy1	DOID:0050814 - temtamy preaxial brachydactyly syndrome
961979	exosc8	DOID:0112334 - pontocerebellar hypoplasia type 1C
962084	arsb	DOID:12800 - mucopolysaccharidosis VI
962103	pnmt	DOID:10825 - essential hypertension
962174	alad	DOID:3133 - acute porphyria
962221	sepsecs	DOID:0060270 - pontocerebellar hypoplasia type 2D
962244	atcay	DOID:0060694 - Cayman type cerebellar ataxia
962280	tub	DOID:10584 - retinitis pigmentosa
962319	kcne1	DOID:0110644 - long QT syndrome 1|DOID:0110647 - long QT syndrome 5|DOID:2842 - Jervell-Lange Nielsen syndrome
962359	cacnb2	DOID:0050451 - Brugada syndrome|DOID:0110221 - Brugada syndrome 4
962371	ldlr	DOID:13810 - familial hypercholesterolemia
962384	gtf2e2	DOID:0111872 - nonphotosensitive trichothiodystrophy 6
962405	rom1	DOID:0110383 - retinitis pigmentosa 7|DOID:10584 - retinitis pigmentosa
962434	cog2	DOID:0070269 - congenital disorder of glycosylation type IIq
962448	las1l	DOID:0060814 - Wilson-Turner syndrome
962455	lamp2	DOID:0050437 - Danon disease
962529	nthl1	DOID:0080411 - familial adenomatous polyposis 3
962542	ebf3	DOID:0081176 - hypotonia, ataxia, and delayed development syndrome
962568	snta1	DOID:0110644 - long QT syndrome 1|DOID:0110653 - long QT syndrome 12
962590	apoa1	DOID:0050636 - familial visceral amyloidosis|DOID:0080957 - primary hypoalphalipoproteinemia 1
962622	nsun2	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081181 - autosomal recessive intellectual developmental disorder 5|DOID:14796 - Dubowitz syndrome
962677	mcm6	DOID:10604 - lactose intolerance
962773	nek2	DOID:0110359 - retinitis pigmentosa 67|DOID:10584 - retinitis pigmentosa
962825	orai1	DOID:0060354 - Stormorken syndrome|DOID:0080089 - tubular aggregate myopathy 1|DOID:0080686 - tubular aggregate myopathy 2|DOID:0111976 - immunodeficiency 9
962904	cav3	DOID:0060255 - rippling muscle disease 2|DOID:0110302 - autosomal dominant limb-girdle muscular dystrophy type 1C|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110644 - long QT syndrome 1|DOID:0110650 - long QT syndrome 9|DOID:0111191 - distal myopathy Tateyama type|DOID:0111338 - isolated elevated serum creatine phosphokinase levels
962999	auh	DOID:0110002 - 3-methylglutaconic aciduria type 1
963021	dph1	DOID:0070477 - diphthamide deficiency syndrome 1
963049	ndufv2	DOID:0060536 - mitochondrial complex I deficiency|DOID:0060892 - late onset Parkinson's disease|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:14330 - Parkinson's disease
963067	acaa1	DOID:0090031 - D-bifunctional protein deficiency
963078	gars1	DOID:0110164 - Charcot-Marie-Tooth disease type 2D|DOID:0111203 - autosomal dominant distal hereditary motor neuronopathy 5|DOID:0111204 - obsolete distal hereditary motor neuronopathy type 5A
963121	pigl	DOID:0112152 - CHIME syndrome
963272	ubiad1	DOID:0060456 - Schnyder corneal dystrophy
963354	tbc1d20	DOID:0110719 - Warburg micro syndrome 4
963399	cpt2	DOID:0060235 - carnitine palmitoyltransferase II deficiency
963434	slc40a1	DOID:0111028 - hemochromatosis type 4
963486	mmachc	DOID:0050715 - methylmalonic aciduria and homocystinuria type cblC
963522	aars1	DOID:0110177 - Charcot-Marie-Tooth disease axonal type 2N
963540	orc6	DOID:0060306 - Meier-Gorlin syndrome
963574	lyrm7	DOID:0080117 - mitochondrial complex III deficiency nuclear type 8|DOID:0111139 - mitochondrial complex III deficiency
963627	cul4b	DOID:0060822 - syndromic X-linked intellectual disability Cabezas type
963671	pus1	DOID:0080099 - myopathy, lactic acidosis, and sideroblastic anemia
963708	ednrb	DOID:0050600 - ABCD syndrome|DOID:0110953 - Waardenburg syndrome type 4A
963728	ccnf	DOID:332 - amyotrophic lateral sclerosis
963744	ftcd	DOID:0111679 - glutamate formiminotransferase deficiency
963756	neurod1	DOID:0050524 - maturity-onset diabetes of the young|DOID:0111104 - maturity-onset diabetes of the young type 6|DOID:9352 - type 2 diabetes mellitus
963772	ucp1	DOID:9970 - obesity
963783	myo1h	DOID:0060731 - congenital central hypoventilation syndrome
963935	abcg5	DOID:0090019 - sitosterolemia 1
963940	ngly1	DOID:0060728 - congenital disorder of deglycosylation 1
963988	g6pc1	DOID:2749 - glycogen storage disease Ia
964071	relb	DOID:0111992 - immunodeficiency 53
964256	fhl1	DOID:0060253 - scapuloperoneal myopathy|DOID:0070251 - X-linked Emery-Dreifuss muscular dystrophy 6|DOID:0080090 - reducing body myopathy 1A|DOID:0080687 - reducing body myopathy 1B|DOID:0112148 - Uruguay faciocardiomusculoskeletal syndrome|DOID:11726 - Emery-Dreifuss muscular dystrophy
964269	fkrp	DOID:0050560 - Walker-Warburg syndrome|DOID:0110299 - autosomal recessive limb-girdle muscular dystrophy type 2I|DOID:0110635 - muscular dystrophy-dystroglycanopathy type B5
964274	ddhd2	DOID:0110806 - hereditary spastic paraplegia 54
964294	rhobtb2	DOID:0070375 - developmental and epileptic encephalopathy 64
964300	atp6ap2	DOID:0060806 - syndromic X-linked intellectual disability Hedera type|DOID:0112105 - X-linked parkinsonism-spasticity syndrome
964391	fah	DOID:0050726 - tyrosinemia type I
964418	slc6a17	DOID:0081212 - autosomal recessive intellectual developmental disorder 48
964442	lig4	DOID:0060010 - Omenn syndrome|DOID:0060021 - DNA ligase IV deficiency|DOID:14796 - Dubowitz syndrome|DOID:9538 - multiple myeloma
964467	mocs2	DOID:0111163 - molybdenum cofactor deficiency type B|DOID:0111164 - molybdenum cofactor deficiency type A
964502	cidec	DOID:0050440 - familial partial lipodystrophy|DOID:0070203 - familial partial lipodystrophy type 5
964523	cacna2d1	DOID:0050793 - short QT syndrome
964547	mastl	DOID:1588 - thrombocytopenia
964566	jph2	DOID:0110323 - hypertrophic cardiomyopathy 17
964687	tm4sf20	DOID:0060244 - specific language impairment
964796	pdk3	DOID:0110207 - Charcot-Marie-Tooth disease X-linked dominant 6
964810	acsf3	DOID:0111263 - combined malonic and methylmalonic acidemia
964836	gas8	DOID:0050144 - Kartagener syndrome|DOID:0110619 - primary ciliary dyskinesia 33
964860	tsfm	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111486 - combined oxidative phosphorylation deficiency 3
965005	glmn	DOID:2436 - glomangioma
965028	gale	DOID:0111458 - galactose epimerase deficiency|DOID:9870 - galactosemia
965084	slc18a3	DOID:0110672 - congenital myasthenic syndrome 21
965119	cryba2	DOID:0110237 - cataract 42
965183	tal2	DOID:9952 - acute lymphoblastic leukemia
965446	fmo3	DOID:0080361 - trimethylaminuria
965455	dbt	DOID:9269 - maple syrup urine disease
965515	cacng2	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070040 - autosomal dominant intellectual developmental disorder 10
965561	dnmt1	DOID:0050968 - autosomal dominant cerebellar ataxia, deafness and narcolepsy|DOID:0070158 - hereditary sensory neuropathy type 1E
965637	epm2a	DOID:3534 - Lafora disease
965886	rps26	DOID:0111888 - Diamond-Blackfan anemia 10|DOID:1339 - Diamond-Blackfan anemia
965953	gatad1	DOID:0110441 - dilated cardiomyopathy 2B
965963	bbs5	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110127 - Bardet-Biedl syndrome 5|DOID:1935 - Bardet-Biedl syndrome
965985	pigv	DOID:0070433 - hyperphosphatasia with impaired intellectual development syndrome 1
966144	ogt	DOID:0080240 - non-syndromic X-linked intellectual disability 106
966355	naa10	DOID:0050781 - Ogden syndrome|DOID:0111799 - syndromic microphthalmia 1
966368	sema3a	DOID:0050834 - CHARGE syndrome|DOID:0090080 - hypogonadotropic hypogonadism 16 with or without anosmia|DOID:3614 - Kallmann syndrome
966402	figla	DOID:0080863 - primary ovarian insufficiency 6|DOID:5426 - primary ovarian insufficiency
966464	prkg1	DOID:14004 - thoracic aortic aneurysm
966504	dolk	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080565 - congenital disorder of glycosylation Im
966554	strada	DOID:0070511 - polyhydramnios, megalencephaly, and symptomatic epilepsy
966564	ubtf	DOID:0070474 - childhood-onset neurodegeneration with brain atrophy
966696	stub1	DOID:0080029 - autosomal recessive spinocerebellar ataxia 16
966768	rhbdf2	DOID:0111506 - palmoplantar keratoderma-esophageal carcinoma syndrome
966790	eprs1	DOID:0070398 - hypomyelinating leukodystrophy 15
966798	prpf8	DOID:0110403 - retinitis pigmentosa 13|DOID:10584 - retinitis pigmentosa
966857	setx	DOID:0050755 - spinocerebellar ataxia with axonal neuropathy 2|DOID:0060196 - amyotrophic lateral sclerosis type 4
966864	ift122	DOID:0050577 - cranioectodermal dysplasia
966886	rho	DOID:0050534 - congenital stationary night blindness|DOID:0110372 - retinitis pigmentosa 4|DOID:0110862 - congenital stationary night blindness autosomal dominant 1|DOID:10584 - retinitis pigmentosa|DOID:11105 - fundus albipunctatus
966912	arg1	DOID:9278 - hyperargininemia
966925	exosc3	DOID:0060266 - pontocerebellar hypoplasia type 1B
966993	gmnn	DOID:0060306 - Meier-Gorlin syndrome
967012	tdp2	DOID:0111613 - autosomal recessive spinocerebellar ataxia 23
967036	coq2	DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070238 - primary coenzyme Q10 deficiency 1
967046	alg8	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080560 - congenital disorder of glycosylation Ih
967058	hikeshi	DOID:0060795 - hypomyelinating leukodystrophy 13
967145	aaas	DOID:0050602 - triple-A syndrome
967250	pnpt1	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0110521 - autosomal recessive nonsyndromic deafness 70|DOID:0111467 - combined oxidative phosphorylation deficiency 13
967300	mccc1	DOID:0050710 - 3-methylcrotonyl-CoA carboxylase deficiency|DOID:0080579 - 3-methylcrotonyl-CoA carboxylase 1 deficiency
967320	eif2ak4	DOID:0081269 - pulmonary venoocclusive disease 2|DOID:5453 - pulmonary venoocclusive disease
967340	ptger2	DOID:0111579 - asthma, nasal polyps, and aspirin intolerance
967379	thbd	DOID:0111908 - thrombophilia due to thrombomodulin defect|DOID:2452 - thrombophilia
967530	ccn6	DOID:0090004 - progressive pseudorheumatoid arthropathy of childhood
967644	rps24	DOID:0111887 - Diamond-blackfan anemia 3|DOID:1339 - Diamond-Blackfan anemia
967669	cpn1	DOID:0111583 - carboxypeptidase N deficiency
967730	tmem126a	DOID:0111437 - optic atrophy 7
967863	dhodh	DOID:0111259 - postaxial acrofacial dysostosis
968173	atp2c1	DOID:0050429 - Hailey-Hailey disease
968205	tsga10	DOID:0111924 - spermatogenic failure 26
968230	ssr4	DOID:0070257 - congenital disorder of glycosylation type IIe|DOID:0080574 - congenital disorder of glycosylation Iy
968253	taf2	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081205 - autosomal recessive intellectual developmental disorder 40
968578	qdpr	DOID:0081130 - BH4-deficient hyperphenylalaninemia C
968641	irf2bpl	DOID:0081327 - neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
968659	c9	DOID:0060303 - complement component 9 deficiency|DOID:0110027 - age related macular degeneration 15
968671	smchd1	DOID:0111193 - facioscapulohumeral muscular dystrophy 2|DOID:11727 - facioscapulohumeral muscular dystrophy
968699	rpe65	DOID:0110016 - Leber congenital amaurosis 2|DOID:0110353 - retinitis pigmentosa 20|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
968712	cfap69	DOID:0111929 - spermatogenic failure 24
968717	myh6	DOID:0110108 - atrial heart septal defect 3|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110320 - hypertrophic cardiomyopathy 14|DOID:0110453 - dilated cardiomyopathy 1EE
968798	rps19	DOID:0111895 - Diamond-Blackfan anemia 1|DOID:1339 - Diamond-Blackfan anemia
968808	xrcc1	DOID:0080260 - autosomal recessive spinocerebellar ataxia 26
968840	klhl40	DOID:0110930 - nemaline myopathy 8
968863	gjc2	DOID:0050580 - hereditary lymphedema|DOID:0060787 - hypomyelinating leukodystrophy 2|DOID:0110796 - hereditary spastic paraplegia 44
969022	usp8	DOID:7004 - ACTH-secreting pituitary adenoma
969039	sars1	DOID:0060308 - autosomal recessive intellectual developmental disorder
969086	fbxo38	DOID:0111210 - autosomal dominant distal hereditary motor neuronopathy 6
969107	bbs10	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110132 - Bardet-Biedl syndrome 10|DOID:1935 - Bardet-Biedl syndrome
969116	tsen54	DOID:0060267 - pontocerebellar hypoplasia type 2A|DOID:0060273 - pontocerebellar hypoplasia type 4|DOID:0060274 - pontocerebellar hypoplasia type 5
969126	galk1	DOID:14695 - galactokinase deficiency
969235	ube2a	DOID:0050888 - syndromic intellectual disability|DOID:0060820 - syndromic X-linked intellectual disability Nascimento type
969276	bag3	DOID:0080097 - myofibrillar myopathy 6|DOID:0110448 - dilated cardiomyopathy 1HH
969316	timm8a	DOID:0050757 - deafness-dystonia-optic neuronopathy syndrome
969333	vps37a	DOID:0110805 - hereditary spastic paraplegia 53
969407	clpp	DOID:0050857 - Perrault syndrome
969446	tubb4b	DOID:0112240 - Leber congenital amaurosis with early-onset deafness
969538	hspb3	DOID:0111209 - autosomal dominant distal hereditary motor neuronopathy 4
969572	vcp	DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia|DOID:0060205 - frontotemporal dementia and/or amyotrophic lateral sclerosis 6|DOID:0110168 - Charcot-Marie-Tooth disease type 2Y|DOID:332 - amyotrophic lateral sclerosis
969738	eef2	DOID:0050975 - spinocerebellar ataxia type 26
969776	rps10	DOID:0111884 - Diamond-Blackfan anemia 9|DOID:1339 - Diamond-Blackfan anemia
969826	rpl35	DOID:1339 - Diamond-Blackfan anemia
969893	stt3b	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080573 - congenital disorder of glycosylation Ix
969901	gpd1l	DOID:0050451 - Brugada syndrome|DOID:0110219 - Brugada syndrome 2
969934	ddx11	DOID:0060535 - Warsaw breakage syndrome
969999	pex26	DOID:0050444 - infantile Refsum disease|DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:0081241 - peroxisome biogenesis disorder 3B|DOID:10582 - Refsum disease|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
970009	ap4m1	DOID:0110802 - hereditary spastic paraplegia 50
970068	mpc1	DOID:0080363 - mitochondrial pyruvate carrier deficiency
970083	nfkb2	DOID:0081152 - common variable immunodeficiency 10|DOID:12177 - common variable immunodeficiency
970111	slc6a20	DOID:0112265 - iminoglycinuria
970166	cfap410	DOID:0050572 - cone-rod dystrophy|DOID:0112299 - axial spondylometaphyseal dysplasia|DOID:332 - amyotrophic lateral sclerosis
970192	sdhb	DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050771 - pheochromocytoma|DOID:0050773 - paraganglioma|DOID:0060537 - mitochondrial complex II deficiency|DOID:0080533 - Carney-Stratakis syndrome|DOID:6457 - Cowden syndrome|DOID:9253 - gastrointestinal stromal tumor
970246	cbx2	DOID:0111776 - 46,XY sex reversal 5|DOID:14448 - 46,XY sex reversal
970500	znf687	DOID:0081369 - Paget's disease of bone 6
970632	rrm2b	DOID:0080127 - mitochondrial DNA depletion syndrome 8a|DOID:0111518 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5|DOID:12934 - Kearns-Sayre syndrome
970637	gnb4	DOID:0110206 - Charcot-Marie-Tooth disease dominant intermediate F
970700	tcn2	DOID:0050818 - transcobalamin II deficiency
970771	dgcr2	DOID:12583 - velocardiofacial syndrome
970816	crym	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110566 - autosomal dominant nonsyndromic deafness 40
970836	cog7	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070257 - congenital disorder of glycosylation type IIe
970847	ears2	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111493 - combined oxidative phosphorylation deficiency 12
970950	cib1	DOID:13777 - epidermodysplasia verruciformis
971083	b9d1	DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0110996 - Joubert syndrome 27
971258	nubpl	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
971378	cryab	DOID:0080093 - myofibrillar myopathy 2|DOID:0110250 - cataract 16 multiple types|DOID:0110450 - dilated cardiomyopathy 1II
971396	dstyk	DOID:0080206 - CAKUT1|DOID:0110774 - hereditary spastic paraplegia 23
971432	f10	DOID:2222 - factor X deficiency
971450	slc25a20l	DOID:0111585 - carnitine-acylcarnitine translocase deficiency
971500	atxn3	DOID:1440 - Machado-Joseph disease
971527	slc33a1	DOID:0110794 - hereditary spastic paraplegia 42
971587	cycs	DOID:1588 - thrombocytopenia
971612	klhl7	DOID:0060294 - cold-induced sweating syndrome|DOID:0110386 - retinitis pigmentosa 42|DOID:10584 - retinitis pigmentosa
971656	pura	DOID:0070061 - autosomal dominant intellectual developmental disorder 31
971728	unc45b	DOID:0110259 - cataract 43
971775	mtap	DOID:0080664 - diaphyseal medullary stenosis with malignant fibrous histiocytoma
971787	fktn	DOID:0050559 - Fukuyama congenital muscular dystrophy|DOID:0050560 - Walker-Warburg syndrome|DOID:0110296 - autosomal recessive limb-girdle muscular dystrophy type 2M|DOID:0110444 - dilated cardiomyopathy 1X|DOID:0112379 - muscular dystrophy-dystroglycanopathy type B4
971822	cldn16	DOID:0060880 - renal hypomagnesemia 3
971827	ddb2	DOID:0050427 - xeroderma pigmentosum|DOID:0110846 - xeroderma pigmentosum group E
971916	rgs5	DOID:10825 - essential hypertension
971957	vldlr	DOID:0050997 - cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
972153	ids	DOID:12799 - mucopolysaccharidosis II
972193	tmem165	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070263 - congenital disorder of glycosylation type IIk
972266	etfdh	DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency
972375	wdr45	DOID:0050562 - West syndrome|DOID:0110739 - neurodegeneration with brain iron accumulation 5
972412	dnajb6	DOID:0110305 - autosomal dominant limb-girdle muscular dystrophy type 1
972470	eif2b1	DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1
972510	lars1	DOID:0080717 - infantile liver failure syndrome 1
972521	pcna	DOID:0081385 - ataxia-telangiectasia-like disorder-2
972563	fto	DOID:9970 - obesity
972601	wdr36	DOID:1067 - open-angle glaucoma|DOID:1070 - primary open angle glaucoma
972612	gle1	DOID:0060559 - lethal congenital contracture syndrome 1|DOID:332 - amyotrophic lateral sclerosis
972619	smc1a	DOID:11725 - Cornelia de Lange syndrome
972642	eftud2	DOID:0080196 - mandibulofacial dysostosis, Guion-Almeida type
972753	rps23	DOID:0070415 - brachycephaly, trichomegaly, and developmental delay
972825	atpaf2	DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency nuclear type 1|DOID:0111143 - mitochondrial complex V (ATP synthase) deficiency
972921	glrx5	DOID:0060065 - autosomal recessive pyridoxine-refractory sideroblastic anemia 2
972934	acadm	DOID:0080153 - medium chain acyl-CoA dehydrogenase deficiency
973091	ndufb3	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
973128	ap1s3	DOID:0111281 - psoriasis 15|DOID:4398 - pustulosis of palm and sole
973140	proc	DOID:0111904 - autosomal recessive thrombophilia due to protein C deficiency|DOID:0111909 - autosomal dominant thrombophilia due to protein C deficiency|DOID:3756 - protein C deficiency
973160	mmadhc	DOID:0050716 - methylmalonic aciduria and homocystinuria type cblD
973174	ufm1	DOID:0060798 - hypomyelinating leukodystrophy 6|DOID:0080296 - hypomyelinating leukodystrophy 14
973184	slc25a15.2	DOID:0050720 - ornithine translocase deficiency
973231	c1qbp	DOID:0111495 - combined oxidative phosphorylation deficiency 33
973260	nhp2	DOID:0070015 - autosomal recessive dyskeratosis congenita 1|DOID:0070017 - autosomal recessive dyskeratosis congenita 2|DOID:2729 - dyskeratosis congenita
973271	b4galt7	DOID:0050802 - Ehlers-Danlos syndrome spondylodysplastic type 2
973306	sncb	DOID:12217 - Lewy body dementia
973407	snx3	DOID:0111803 - syndromic microphthalmia 8
973432	gnaq	DOID:0111529 - familial multiple nevi flammei|DOID:0111563 - Sturge-Weber syndrome|DOID:6039 - uveal melanoma
973477	pex19	DOID:905 - Zellweger syndrome
973540	arhgdia	DOID:1184 - nephrotic syndrome
973616	cox5a	DOID:3762 - cytochrome-c oxidase deficiency disease
973628	mpi	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080554 - congenital disorder of glycosylation Ib
973637	stt3a	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080572 - congenital disorder of glycosylation Iw
973652	mad2l2	DOID:13636 - Fanconi anemia
973687	tat	DOID:0050725 - tyrosinemia type II
973705	tmem138	DOID:0110980 - Joubert syndrome 1|DOID:0110985 - Joubert syndrome 16
973747	pomgnt2	DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0112382 - muscular dystrophy-dystroglycanopathy type C8
973775	far1	DOID:0081243 - rhizomelic chondrodysplasia punctate type 4
973826	nup155	DOID:0050650 - familial atrial fibrillation
973888	hba2	DOID:0110031 - hemoglobin H disease|DOID:0111363 - Heinz body anemia|DOID:0111631 - familial erythrocytosis 7|DOID:1099 - alpha thalassemia
973906	crbn	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081178 - autosomal recessive intellectual developmental disorder 2
974088	eif2b2	DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1
974113	b3galt6	DOID:0050802 - Ehlers-Danlos syndrome spondylodysplastic type 2|DOID:0112198 - spondyloepimetaphyseal dysplasia with joint laxity type 1
974303	ethe1	DOID:0060640 - ethylmalonic encephalopathy
974452	tardbp	DOID:0060201 - amyotrophic lateral sclerosis type 10|DOID:332 - amyotrophic lateral sclerosis
974513	gatm	DOID:0050712 - AGAT deficiency
974587	coa8	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
974636	mrps7	DOID:0111497 - combined oxidative phosphorylation deficiency 34
974662	sec23b	DOID:0111401 - congenital dyserythropoietic anemia type II|DOID:1338 - congenital dyserythropoietic anemia|DOID:6457 - Cowden syndrome
974693	c6.2	DOID:0060299 - complement component 6 deficiency
974719	cdc6	DOID:0060306 - Meier-Gorlin syndrome
974885	lztfl1	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110139 - Bardet-Biedl syndrome 17|DOID:1935 - Bardet-Biedl syndrome
974897	trip13	DOID:2154 - nephroblastoma
974920	reep6	DOID:10584 - retinitis pigmentosa
974947	sdhc	DOID:0050773 - paraganglioma|DOID:0080533 - Carney-Stratakis syndrome|DOID:6457 - Cowden syndrome|DOID:9253 - gastrointestinal stromal tumor
975114	atp2a1	DOID:0050692 - Brody myopathy
975244	iyd	DOID:0112188 - thyroid dyshormonogenesis 4
975255	slc7a7	DOID:0060439 - lysinuric protein intolerance
975266	dhfr	DOID:13382 - megaloblastic anemia
975276	ndufs2	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:705 - Leber hereditary optic neuropathy
975312	slc1a3	DOID:0050994 - episodic ataxia type 6
975372	iqcb1	DOID:0050576 - Senior-Loken syndrome|DOID:14791 - Leber congenital amaurosis
975438	eef1a2	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070068 - autosomal dominant intellectual developmental disorder 38
975698	pcbd1	DOID:0081131 - BH4-deficient hyperphenylalaninemia D|DOID:9351 - diabetes mellitus
975728	dpm3	DOID:0050570 - congenital disorder of glycosylation type I
975749	stil	DOID:10907 - microcephaly
975781	serpinc1	DOID:3755 - antithrombin III deficiency
975868	dnajc6	DOID:0060891 - Parkinson's disease 19A|DOID:0060894 - early-onset Parkinson's disease
975920	vac14	DOID:0060589 - Yunis-Varon syndrome
975936	mkks	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110128 - Bardet-Biedl syndrome 6|DOID:0111255 - McKusick-Kaufman syndrome|DOID:1935 - Bardet-Biedl syndrome
975959	ndufaf5	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
976034	dgcr8	DOID:12583 - velocardiofacial syndrome
976057	cdc45	DOID:0060306 - Meier-Gorlin syndrome
976154	uqcrc2	DOID:0080114 - mitochondrial complex III deficiency nuclear type 5|DOID:0111139 - mitochondrial complex III deficiency
976197	dao	DOID:332 - amyotrophic lateral sclerosis|DOID:5419 - schizophrenia
976228	ddx59	DOID:0060375 - orofaciodigital syndrome V
976257	mlc1	DOID:0080315 - megalencephalic leukoencephalopathy with subcortical cysts|DOID:0080316 - megalencephalic leukoencephalopathy with subcortical cysts 1
976266	alg10	DOID:0110645 - long QT syndrome 2
976278	arl6ip1	DOID:0110812 - hereditary spastic paraplegia 61
976302	rlbp1	DOID:0050683 - Bothnia retinal dystrophy|DOID:0111015 - Newfoundland cone-rod dystrophy|DOID:10584 - retinitis pigmentosa|DOID:11105 - fundus albipunctatus
976314	idh2	DOID:0050575 - D-2-hydroxyglutaric aciduria|DOID:0060221 - Maffucci syndrome|DOID:4624 - Ollier disease
976386	cant1	DOID:0060462 - Desbuquois dysplasia
976426	gpc4	DOID:0060248 - Simpson-Golabi-Behmel syndrome type 1|DOID:2154 - nephroblastoma
976438	atp11c	DOID:0111846 - X-linked congenital hemolytic anemia
976452	adam9	DOID:0050572 - cone-rod dystrophy|DOID:0111020 - cone-rod dystrophy 9
976502	samhd1	DOID:0050629 - Aicardi-Goutieres syndrome|DOID:0060386 - Chilblain lupus
976511	gss	DOID:0080699 - glutathione synthetase deficiency|DOID:0081034 - glutatione synthetase deficiency with 5-oxoprolinuria|DOID:0112252 - glutathione synthetase deficiency of erythrocytes
976533	pigw	DOID:0070432 - hyperphosphatasia with impaired intellectual development syndrome 5
976542	cars2	DOID:0111489 - combined oxidative phosphorylation deficiency 27
976622	dpm1	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080557 - congenital disorder of glycosylation Ie
976641	calm1	DOID:0060674 - catecholaminergic polymorphic ventricular tachycardia|DOID:0060678 - catecholaminergic polymorphic ventricular tachycardia 4|DOID:0110644 - long QT syndrome 1|DOID:0110655 - long QT syndrome 14
976711	tdo2	DOID:0111703 - familial hypertryptophanemia
976889	rars2	DOID:0060275 - pontocerebellar hypoplasia type 6
976954	cat.2	DOID:2582 - acatalasia
977084	cyp4v2.2	DOID:0050664 - Bietti crystalline corneoretinal dystrophy
977112	fmr1	DOID:0050879 - fragile X-associated tremor/ataxia syndrome|DOID:0080857 - primary ovarian insufficiency 1|DOID:14261 - fragile X syndrome|DOID:5426 - primary ovarian insufficiency
977138	chrna1	DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A
977166	cdca7	DOID:0090007 - immunodeficiency-centromeric instability-facial anomalies syndrome|DOID:0090010 - immunodeficiency-centromeric instability-facial anomalies syndrome 3
977251	dlg3	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112041 - non-syndromic X-linked intellectual disability 90
977281	acat1	DOID:14723 - beta-ketothiolase deficiency
977325	rps7	DOID:0111881 - Diamond-Blackfan anemia 8|DOID:1339 - Diamond-Blackfan anemia
977342	pdhb	DOID:3649 - pyruvate decarboxylase deficiency
977361	dvl3	DOID:0060766 - autosomal dominant Robinow syndrome 1|DOID:0060767 - autosomal dominant Robinow syndrome 3
977434	pmpca	DOID:0080061 - autosomal recessive spinocerebellar ataxia 2
977451	uqcrq	DOID:0080111 - mitochondrial complex III deficiency nuclear type 1|DOID:0080113 - mitochondrial complex III deficiency nuclear type 4|DOID:0111139 - mitochondrial complex III deficiency
977473	kif5c	DOID:0090133 - complex cortical dysplasia with other brain malformations 2
977517	msh2	DOID:0050465 - Muir-Torre syndrome|DOID:0111253 - neurofibromatosis 1|DOID:0112182 - mismatch repair cancer syndrome|DOID:3070 - high grade glioma|DOID:3883 - Lynch syndrome|DOID:8712 - neurofibromatosis
977574	atp2b3	DOID:0111829 - X-linked spinocerebellar ataxia 1
977582	g6pc3	DOID:0050590 - severe congenital neutropenia|DOID:0112136 - severe congenital neutropenia 4
977610	myl4	DOID:0050650 - familial atrial fibrillation
977669	phb1	DOID:1612 - breast cancer
977731	nans	DOID:0080576 - spondyloepimetaphyseal dysplasia, Genevieve-type
977742	cybc1	DOID:3265 - chronic granulomatous disease
977783	ass1	DOID:0070340 - classic citrullinemia|DOID:9273 - citrullinemia
977813	spr	DOID:0111168 - sepiapterin reductase deficiency
977852	gnb5	DOID:0081008 - intellectual developmental disorder with cardiac arrhythmia
977902	hps1	DOID:0060539 - Hermansky-Pudlak syndrome 1
977980	xpa	DOID:0050427 - xeroderma pigmentosum|DOID:0110843 - xeroderma pigmentosum group A
978018	scn1a	DOID:0050561 - Lennox-Gastaut syndrome|DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0060171 - obsolete Dravet syndrome|DOID:0060178 - familial hemiplegic migraine|DOID:0080422 - Dravet syndrome|DOID:0111183 - familial hemiplegic migraine 3|DOID:0111294 - generalized epilepsy with febrile seizures plus 2|DOID:0111302 - generalized epilepsy with febrile seizures plus 1|DOID:2481 - infantile epileptic encephalopathy
978041	fancl	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111082 - Fanconi anemia complementation group L|DOID:13636 - Fanconi anemia
978215	dusp6	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090090 - hypogonadotropic hypogonadism 19 with or without anosmia|DOID:3614 - Kallmann syndrome
978241	gdap1	DOID:0110167 - Charcot-Marie-Tooth disease axonal type 2K|DOID:0110185 - Charcot-Marie-Tooth disease type 4A|DOID:0110201 - Charcot-Marie-Tooth disease recessive intermediate A
978265	ccdc6	DOID:3969 - papillary thyroid carcinoma
978274	dlg5	DOID:0110892 - inflammatory bowel disease 1
978388	atp5f1d	DOID:0070463 - mitochondrial complex V (ATP synthase) deficiency nuclear type 5|DOID:0111143 - mitochondrial complex V (ATP synthase) deficiency
978428	gns	DOID:0111402 - mucopolysaccharidosis type IIID|DOID:12801 - mucopolysaccharidosis III
978452	cybb	DOID:0070195 - X-linked chronic granulomatous disease|DOID:0112000 - immunodeficiency 34|DOID:3265 - chronic granulomatous disease
978490	sumo1	DOID:0050567 - orofacial cleft|DOID:0080403 - orofacial cleft 10
978788	mgat2	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070253 - congenital disorder of glycosylation type IIa
978802	bco1	DOID:9969 - carotenemia
978807	lim2	DOID:0110263 - cataract 19 multiple types
978819	wfs1	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110241 - cataract 41|DOID:0110584 - autosomal dominant nonsyndromic deafness 6|DOID:0110629 - Wolfram syndrome 1|DOID:10632 - Wolfram syndrome|DOID:9352 - type 2 diabetes mellitus
978826	mboat7	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081219 - autosomal recessive intellectual developmental disorder 57
978834	spg21	DOID:0060245 - Mast syndrome
978846	mtfmt	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111491 - combined oxidative phosphorylation deficiency 15
978895	twnk	DOID:0050556 - infantile onset spinocerebellar ataxia|DOID:0050857 - Perrault syndrome|DOID:0080121 - mitochondrial DNA depletion syndrome 3|DOID:0080126 - mitochondrial DNA depletion syndrome 7|DOID:0111276 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|DOID:0111520 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
978984	mmaa	DOID:0060742 - methylmalonic acidemia cblA type
978998	kif11	DOID:0060349 - microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
979087	bbs1	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:1935 - Bardet-Biedl syndrome
979149	habp2	DOID:0080701 - prothrombin thrombophilia|DOID:0111907 - thrombophilia due to thrombin defect|DOID:2452 - thrombophilia
979183	ikbkg	DOID:0081078 - ectodermal dysplasia and immunodeficiency 1|DOID:0112003 - immunodeficiency 33|DOID:12305 - Bloch-Sulzberger syndrome|DOID:14793 - hypohidrotic ectodermal dysplasia
979206	hdc	DOID:11119 - Gilles de la Tourette syndrome
979211	lmod1	DOID:0060610 - megacystis-microcolon-intestinal hypoperistalsis syndrome
979242	pofut1	DOID:0060256 - Dowling-Degos disease
979280	myo1a	DOID:0110571 - autosomal dominant nonsyndromic deafness 48
979299	lbr	DOID:0111588 - Greenberg dysplasia|DOID:9631 - Pelger-Huet anomaly
979354	znf644	DOID:11830 - myopia
979495	ccdc22	DOID:0060565 - Ritscher-Schinzel syndrome|DOID:0060572 - Ritscher-Schinzel syndrome 2
979544	ccno	DOID:0050144 - Kartagener syndrome|DOID:0110600 - primary ciliary dyskinesia 29
979607	rpl21	DOID:0110709 - hypotrichosis 12
979685	chrne	DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A|DOID:0110677 - congenital myasthenic syndrome 4B|DOID:0110678 - congenital myasthenic syndrome 4A|DOID:0110679 - congenital myasthenic syndrome 4C
979722	agk	DOID:0080132 - Sengers syndrome|DOID:0110245 - cataract 38
979734	bin1	DOID:0111220 - centronuclear myopathy 2|DOID:14717 - centronuclear myopathy
979887	kif22	DOID:0112199 - spondyloepimetaphyseal dysplasia with joint laxity type 2
979987	rad54l	DOID:0060060 - non-Hodgkin lymphoma|DOID:1612 - breast cancer
980058	hspd1	DOID:0060789 - hypomyelinating leukodystrophy 4|DOID:0110766 - hereditary spastic paraplegia 13
980089	ermard	DOID:0050454 - periventricular nodular heterotopia
980106	grm1	DOID:0080062 - autosomal recessive spinocerebellar ataxia 13
980143	ndufaf6	DOID:3652 - Leigh disease
980160	cthrc1	DOID:9206 - Barrett's esophagus
980215	toe1	DOID:0060276 - pontocerebellar hypoplasia type 7
980230	c8a	DOID:0060301 - type I complement component 8 deficiency
980341	cngb1	DOID:0110402 - retinitis pigmentosa 45|DOID:10584 - retinitis pigmentosa
980390	hydin	DOID:0050144 - Kartagener syndrome|DOID:0110617 - primary ciliary dyskinesia 5
980395	lcat	DOID:1391 - Norum disease
980452	bfsp1	DOID:0110264 - cataract 33
980509	gbe1	DOID:2750 - glycogen storage disease IV
980520	pros1	DOID:0111900 - autosomal dominant thrombophilia due to protein S deficiency|DOID:0111905 - autosomal recessive thrombophilia due to protein S deficiency
980526	robo2	DOID:9620 - vesicoureteral reflux
980531	abcb7	DOID:0050554 - X-linked sideroblastic anemia with ataxia
980538	thoc2	DOID:0112056 - X-linked intellectual disability-short stature-overweight syndrome
980549	arhgef9	DOID:0050709 - early infantile epileptic encephalopathy|DOID:2481 - infantile epileptic encephalopathy
980567	atrx	DOID:0110030 - alpha thalassemia-X-linked intellectual disability syndrome|DOID:0112125 - alpha-thalassemia myelodysplasia syndrome
980578	slc16a2	DOID:0050631 - Allan-Herndon-Dudley syndrome
980610	dhtkd1	DOID:0110170 - Charcot-Marie-Tooth disease axonal type 2Q|DOID:0111453 - 2-aminoadipic 2-oxoadipic aciduria
980647	cep41	DOID:0050777 - Joubert syndrome|DOID:0110980 - Joubert syndrome 1|DOID:0110984 - Joubert syndrome 15
980660	lep	DOID:0111334 - congenital leptin deficiency
980706	depdc5	DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060748 - familial temporal lobe epilepsy 1|DOID:0081421 - familial focal epilepsy with variable foci 1
980794	ess2	DOID:12583 - velocardiofacial syndrome
980811	bcr	DOID:8552 - chronic myeloid leukemia|DOID:9952 - acute lymphoblastic leukemia
980870	slitrk6	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0111628 - high myopia-sensorineural deafness syndrome
980896	scnn1g	DOID:0050477 - Liddle syndrome|DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1|DOID:9563 - bronchiectasis
981051	fat4	DOID:0060238 - Van Maldergem syndrome|DOID:0060366 - Hennekam syndrome
981143	slc6a4l	DOID:2030 - anxiety disorder
981163	nus1	DOID:0080227 - autosomal dominant intellectual developmental disorder 55
981187	pigr	DOID:2986 - IgA glomerulonephritis
981207	pln	DOID:0110324 - hypertrophic cardiomyopathy 18|DOID:0110439 - dilated cardiomyopathy 1P
981210	syt2	DOID:0110659 - congenital myasthenic syndrome 7
981256	ptprc	DOID:0060014 - CD45 deficiency|DOID:0090014 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
981264	cfh	DOID:0060745 - Doyne honeycomb retinal dystrophy|DOID:0060746 - basal laminar drusen|DOID:0110017 - age related macular degeneration 4
981310	rps15a	DOID:1339 - Diamond-Blackfan anemia
981362	fanci	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111091 - Fanconi anemia complementation group I|DOID:13636 - Fanconi anemia
981380	vps33b	DOID:0050763 - ARC syndrome
981401	lmf1	DOID:0111422 - familial lipase maturation factor 1 deficiency
981497	bpgm	DOID:0111630 - familial erythrocytosis 8
981611	epas1	DOID:0080339 - familial erythrocytosis 4
981624	abcg8	DOID:0060262 - gallbladder disease|DOID:0090019 - sitosterolemia 1
981634	prepl	DOID:0060858 - hypotonia-cystinuria syndrome
981658	dync2li1	DOID:0050592 - asphyxiating thoracic dystrophy|DOID:12714 - Ellis-Van Creveld syndrome
981680	tbc1d24	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080449 - developmental and epileptic encephalopathy 16|DOID:0110532 - autosomal recessive nonsyndromic deafness 86|DOID:0110586 - autosomal dominant nonsyndromic deafness 65|DOID:0111627 - DOORS syndrome
981705	tsc2	DOID:0080324 - tuberous sclerosis 1|DOID:0080325 - tuberous sclerosis 2|DOID:13515 - tuberous sclerosis|DOID:3319 - lymphangioleiomyomatosis
981713	tnrc6a	DOID:0111696 - familial adult myoclonic epilepsy 6
981722	slx4	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111092 - Fanconi anemia complementation group P|DOID:13636 - Fanconi anemia
981845	lmbr1	DOID:0050603 - acheiropody|DOID:0111350 - Laurin-Sandrow syndrome|DOID:0111564 - hypoplastic or aplastic tibia with polydactyly|DOID:0111818 - syndactyly type 4|DOID:11193 - syndactyly|DOID:1148 - polydactyly
981974	snrnp200	DOID:0110366 - retinitis pigmentosa 33|DOID:10584 - retinitis pigmentosa
981991	gck	DOID:0050524 - maturity-onset diabetes of the young|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0070216 - familial hyperinsulinemic hypoglycemia 3|DOID:0111100 - maturity-onset diabetes of the young type 2|DOID:13317 - hyperinsulinemic hypoglycemia|DOID:9352 - type 2 diabetes mellitus
982086	gpc3	DOID:0060248 - Simpson-Golabi-Behmel syndrome type 1|DOID:2154 - nephroblastoma
982103	gpr101	DOID:0112007 - growth hormone secreting pituitary adenoma 2
982143	atxn1	DOID:0050954 - spinocerebellar ataxia type 1
982202	btd	DOID:856 - biotinidase deficiency
982273	rpgr	DOID:0050144 - Kartagener syndrome|DOID:0050572 - cone-rod dystrophy|DOID:0110414 - retinitis pigmentosa 3|DOID:0111008 - X-linked cone-rod dystrophy 1|DOID:0112124 - X-linked retinitis pigmentosa and sinorespiratory infections|DOID:10584 - retinitis pigmentosa
982299	otc	DOID:9271 - ornithine carbamoyltransferase deficiency
982323	ano6	DOID:0111052 - Scott syndrome
982337	mcoln1	DOID:0080490 - mucolipidosis type IV
982365	coch	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110593 - autosomal dominant nonsyndromic deafness 9|DOID:0111644 - autosomal recessive nonsyndromic deafness 110
982456	ift52	DOID:0050577 - cranioectodermal dysplasia
982533	dlat	DOID:3649 - pyruvate decarboxylase deficiency
982560	blm	DOID:2717 - Bloom syndrome
982585	cln6	DOID:0110729 - neuronal ceroid lipofuscinosis 6A|DOID:0110730 - neuronal ceroid lipofuscinosis 6B
982604	bola3	DOID:0080134 - multiple mitochondrial dysfunctions syndrome 2
982644	ampd2	DOID:0060278 - pontocerebellar hypoplasia type 9|DOID:0110814 - hereditary spastic paraplegia 63
982742	itga2	DOID:0111045 - platelet-type bleeding disorder 9
982766	scn4a	DOID:0110682 - congenital myasthenic syndrome 16|DOID:0111538 - paramyotonia congenita of Von Eulenburg|DOID:14451 - hyperkalemic periodic paralysis|DOID:14452 - hypokalemic periodic paralysis
982842	reln	DOID:0060748 - familial temporal lobe epilepsy 1|DOID:0060751 - familial temporal lobe epilepsy 7|DOID:0060902 - Norman-Roberts syndrome
982850	dld	DOID:3652 - Leigh disease|DOID:9269 - maple syrup urine disease
982867	retreg1	DOID:0070150 - hereditary sensory and autonomic neuropathy type 2B|DOID:0070161 - hereditary sensory and autonomic neuropathy type 2
982872	slc6a3	DOID:0070489 - classic dopamine transporter deficiency syndrome|DOID:1094 - attention deficit hyperactivity disorder
982902	pdss1	DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070238 - primary coenzyme Q10 deficiency 1|DOID:0070239 - primary coenzyme Q10 deficiency 2
982926	odad2	DOID:0050144 - Kartagener syndrome|DOID:0110609 - primary ciliary dyskinesia 23
982936	kcnb1	DOID:0080461 - developmental and epileptic encephalopathy 26
983047	zc3h14	DOID:0060308 - autosomal recessive intellectual developmental disorder
983055	fbln5	DOID:0070130 - autosomal dominant cutis laxa 1|DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:0070142 - autosomal dominant cutis laxa|DOID:0070144 - autosomal recessive cutis laxa type I|DOID:3144 - cutis laxa
983071	gfm1	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111474 - combined oxidative phosphorylation deficiency 1
983103	kcnh2	DOID:0050793 - short QT syndrome|DOID:0110644 - long QT syndrome 1|DOID:0110645 - long QT syndrome 2
983106	ahr	DOID:10584 - retinitis pigmentosa
983161	nek1	DOID:0081378 - amyotrophic lateral sclerosis type 24|DOID:0110092 - short-rib thoracic dysplasia 6 with or without polydactyly
983213	kcnj13	DOID:0110118 - Leber congenital amaurosis 16|DOID:0111570 - snowflake vitreoretinal degeneration|DOID:14791 - Leber congenital amaurosis
983223	slc19a3	DOID:0050659 - biotin-responsive basal ganglia disease
983244	gsdme	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110575 - autosomal dominant nonsyndromic deafness 5
983262	gpnmb	DOID:0080932 - primary localized cutaneous amyloidosis 3
983284	ddc	DOID:0090123 - aromatic L-amino acid decarboxylase deficiency
983313	pcsk1	DOID:0111698 - proprotein convertase 1/3 deficiency
983328	cast	DOID:0070526 - PLACK syndrome
983363	guf1	DOID:0050562 - West syndrome
983417	gucy1a1	DOID:13099 - Moyamoya disease
983447	mab21l2	DOID:0111802 - syndromic microphthalmia 14
983490	lamb3	DOID:0060737 - junctional epidermolysis bullosa Herlitz type|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type|DOID:0110054 - amelogenesis imperfecta type 1A
983509	pitpnm3	DOID:0050572 - cone-rod dystrophy|DOID:0111010 - cone-rod dystrophy 5
983512	slc13a5	DOID:0080453 - developmental and epileptic encephalopathy 25
983521	hip1	DOID:10283 - prostate cancer
983542	rhag	DOID:0050641 - Rh deficiency syndrome|DOID:0111562 - overhydrated hereditary stomatocytosis
983585	matr3	DOID:0060212 - amyotrophic lateral sclerosis type 21|DOID:332 - amyotrophic lateral sclerosis
983639	tk2	DOID:0080120 - mitochondrial DNA depletion syndrome 2|DOID:0080121 - mitochondrial DNA depletion syndrome 3
983661	cdh15	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070033 - autosomal dominant intellectual developmental disorder 3
983713	kif5a	DOID:0081379 - amyotrophic lateral sclerosis type 25|DOID:0110763 - hereditary spastic paraplegia 10
983721	syne2.2	DOID:0070250 - autosomal dominant Emery-Dreifuss muscular dystrophy 5|DOID:11726 - Emery-Dreifuss muscular dystrophy
983791	dnal1	DOID:0050144 - Kartagener syndrome|DOID:0110613 - primary ciliary dyskinesia 16
983813	atf6	DOID:0050572 - cone-rod dystrophy|DOID:0110009 - achromatopsia 7|DOID:13911 - achromatopsia
983820	tsen15	DOID:0112329 - pontocerebellar hypoplasia type 2F
983823	sell	DOID:2986 - IgA glomerulonephritis
983826	ddr2	DOID:0112196 - spondylometaepiphyseal dysplasia, short limb-hand type
983840	atf4	DOID:10629 - microphthalmia
983867	brdt	DOID:0070163 - spermatogenic failure 21
983901	abcd3	DOID:0111066 - congenital bile acid synthesis defect 5
983911	rpl5	DOID:0111879 - Diamond-Blackfan anemia 6|DOID:1339 - Diamond-Blackfan anemia
983981	impg2	DOID:0110371 - retinitis pigmentosa 56|DOID:10584 - retinitis pigmentosa
984010	taf15	DOID:4549 - extraskeletal myxoid chondrosarcoma|DOID:6496 - obsolete extraskeletal myxoid chondrosarcoma
984031	ca4	DOID:0110404 - retinitis pigmentosa 17|DOID:10584 - retinitis pigmentosa
984046	cltc	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080226 - autosomal dominant intellectual developmental disorder 56
984100	edaradd	DOID:0050591 - tooth agenesis|DOID:0111653 - ectodermal dysplasia 11A|DOID:0111654 - ectodermal dysplasia 11B|DOID:0111663 - ectodermal dysplasia 10A|DOID:0111665 - ectodermal dysplasia 10B|DOID:14793 - hypohidrotic ectodermal dysplasia
984173	chat	DOID:0110671 - congenital myasthenic syndrome 6
984187	snx14	DOID:0080066 - autosomal recessive spinocerebellar ataxia 20
984210	nt5e	DOID:0111582 - hereditary arterial and articular multiple calcification syndrome
984238	gmppa	DOID:0050602 - triple-A syndrome|DOID:0112321 - alacrima, achalasia, and impaired intellectual development syndrome
984297	cyp27a1	DOID:4810 - cerebrotendinous xanthomatosis
984390	prdm8	DOID:0111445 - progressive myoclonus epilepsy 10
984403	hgsnat	DOID:0110389 - retinitis pigmentosa 73|DOID:0111393 - mucopolysaccharidosis type IIIC|DOID:10584 - retinitis pigmentosa|DOID:12801 - mucopolysaccharidosis III
984408	pomk	DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0112381 - muscular dystrophy-dystroglycanopathy type C12
984424	kl	DOID:0111063 - hyperphosphatemic familial tumoral calcinosis
984452	masp1	DOID:0060225 - 3MC syndrome|DOID:0060575 - 3MC syndrome 1
984491	ccdc50	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110569 - autosomal dominant nonsyndromic deafness 44
984503	slc35c1	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070255 - congenital disorder of glycosylation type IIc|DOID:6612 - leukocyte adhesion deficiency
984582	rb1cc1	DOID:1612 - breast cancer
984605	dsg2	DOID:0110081 - arrhythmogenic right ventricular dysplasia 10|DOID:0110458 - dilated cardiomyopathy 1BB
984630	dsg1	DOID:0081108 - keratosis palmoplantaris striata 1
984633	lama3	DOID:0060737 - junctional epidermolysis bullosa Herlitz type|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type
984653	npc1	DOID:0070113 - Niemann-Pick disease type C1
984684	faslg	DOID:1324 - lung cancer|DOID:6688 - autoimmune lymphoproliferative syndrome|DOID:9074 - systemic lupus erythematosus
984726	glis3	DOID:0060638 - neonatal diabetes mellitus with congenital hypothyroidism
984729	fxn	DOID:0111218 - Friedreich ataxia 1|DOID:12705 - Friedreich ataxia
984744	zswim6	DOID:0060342 - acromelic frontonasal dysostosis
984749	htr1a	DOID:9620 - vesicoureteral reflux
984800	fancd2	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111083 - Fanconi anemia complementation group D2|DOID:13636 - Fanconi anemia
984836	prss12	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081177 - autosomal recessive intellectual developmental disorder 1
984842	ank2	DOID:0110644 - long QT syndrome 1|DOID:0111700 - ankyrin-B-related cardiac arrhythmia
984958	nf2	DOID:0070480 - schwannomatosis 1|DOID:0111252 - vestibular schwannomatosis|DOID:3204 - schwannomatosis|DOID:3565 - meningioma|DOID:4586 - familial meningioma|DOID:8712 - neurofibromatosis
984989	angptl6	DOID:0060228 - intracranial berry aneurysm
984992	trim37	DOID:0050436 - mulibrey nanism
985022	cpamd8	DOID:0080613 - anterior segment dysgenesis 8
985088	kdsr	DOID:0050467 - erythrokeratodermia variabilis
985137	esrp1	DOID:0111639 - autosomal recessive nonsyndromic deafness 109
985148	tmem67	DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0070117 - Meckel syndrome 3|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110136 - Bardet-Biedl syndrome 14|DOID:0111001 - Joubert syndrome 6|DOID:0111118 - nephronophthisis 11|DOID:0111589 - COACH syndrome
985171	matn3	DOID:0070299 - multiple epiphyseal dysplasia 5|DOID:12721 - multiple epiphyseal dysplasia
985174	wdr35	DOID:0050577 - cranioectodermal dysplasia|DOID:0110090 - short-rib thoracic dysplasia 7 with or without polydactyly
985201	suox	DOID:0111270 - isolated sulfite oxidase deficiency
985231	itga7	DOID:0110639 - congenital muscular dystrophy due to integrin alpha-7 deficiency
985263	stat2	DOID:0111975 - immunodeficiency 44
985327	znf592	DOID:0060364 - Galloway-Mowat syndrome 1
985355	cib2	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110505 - autosomal recessive nonsyndromic deafness 48|DOID:0110826 - Usher syndrome type 1|DOID:0110836 - Usher syndrome type 1J
985414	pex1	DOID:0050444 - infantile Refsum disease|DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:0080623 - Heimler syndrome 1|DOID:0081240 - peroxisome biogenesis disorder 1B|DOID:0081241 - peroxisome biogenesis disorder 3B|DOID:10582 - Refsum disease|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
985434	map3k20	DOID:0111221 - centronuclear myopathy 6 with fiber-type disproportion
985510	srd5a3	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0050807 - Kahrizi syndrome|DOID:0080568 - congenital disorder of glycosylation Iq
985593	prph2	DOID:0050572 - cone-rod dystrophy|DOID:0050661 - vitelliform macular dystrophy|DOID:0060863 - patterned macular dystrophy|DOID:0060866 - patterned macular dystrophy 1|DOID:0110383 - retinitis pigmentosa 7|DOID:10584 - retinitis pigmentosa|DOID:11105 - fundus albipunctatus|DOID:9822 - partial central choroid dystrophy
985614	syt14	DOID:0080063 - autosomal recessive spinocerebellar ataxia 11
985697	manba	DOID:3633 - beta-mannosidosis
985727	tacr3	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090071 - hypogonadotropic hypogonadism 11 with or without anosmia|DOID:3614 - Kallmann syndrome
985745	nfkb1	DOID:0081154 - common variable immunodeficiency 12|DOID:12177 - common variable immunodeficiency
985829	mccc2	DOID:0050710 - 3-methylcrotonyl-CoA carboxylase deficiency
985840	cilk1	DOID:0060641 - endocrine-cerebro-osteodysplasia syndrome|DOID:4890 - juvenile myoclonic epilepsy
985870	med12	DOID:0060289 - Ohdo syndrome|DOID:0080985 - syndromic X-linked intellectual disorder Lujan-Fryns-type|DOID:14711 - FG syndrome
985945	irf8	DOID:0111985 - immunodeficiency 32B|DOID:0111986 - immunodeficiency 32A
985987	fezf1	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090081 - hypogonadotropic hypogonadism 22 with or without anosmia|DOID:3614 - Kallmann syndrome
986036	fancc	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111087 - Fanconi anemia complementation group C|DOID:13636 - Fanconi anemia
986067	hsd17b3	DOID:0112248 - 17-beta hydroxysteroid dehydrogenase 3 deficiency
986140	nectin1	DOID:0060773 - cleft lip-palate-ectodermal dysplasia syndrome|DOID:1909 - melanoma
986202	ky	DOID:0080098 - myofibrillar myopathy 7
986220	htr2a	DOID:0050741 - alcohol dependence|DOID:1595 - melancholic depression|DOID:5419 - schizophrenia
986225	itm2b	DOID:0070029 - ITM2B-related cerebral amyloid angiopathy 1|DOID:0070030 - ITM2B-related cerebral amyloid angiopathy 2
986277	alg3	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080556 - congenital disorder of glycosylation Id
986285	eif2b5	DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1
986302	klf6	DOID:0080764 - hereditary diffuse gastric cancer|DOID:10283 - prostate cancer|DOID:10534 - stomach cancer
986362	eif2s3	DOID:0060801 - MEHMO syndrome
986413	card9	DOID:2058 - chronic mucocutaneous candidiasis
986529	antxr1	DOID:0112249 - GAPO syndrome
986625	rasgrp2	DOID:0111051 - platelet-type bleeding disorder 18
986637	msh6	DOID:0050465 - Muir-Torre syndrome|DOID:0112182 - mismatch repair cancer syndrome|DOID:1380 - endometrial cancer|DOID:3883 - Lynch syndrome
986646	fshr	DOID:14450 - 46 XX gonadal dysgenesis|DOID:5425 - ovarian hyperstimulation syndrome
986650	lhcgr	DOID:0111545 - familial male-limited precocious puberty|DOID:0112260 - Leydig cell hypoplasia type I
986666	epcam	DOID:0060776 - congenital diarrhea 5 with tufting enteropathy|DOID:0070270 - hereditary nonpolyposis colorectal cancer type 8|DOID:3883 - Lynch syndrome
986683	ccdc40	DOID:0050144 - Kartagener syndrome|DOID:0110623 - primary ciliary dyskinesia 15
986712	mc3r	DOID:9970 - obesity
986759	pcdh15	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110481 - autosomal recessive nonsyndromic deafness 23|DOID:0110826 - Usher syndrome type 1|DOID:0110831 - Usher syndrome type 1D|DOID:0110832 - Usher syndrome type 1F
986762	papss2	DOID:0050812 - spondyloepimetaphyseal dysplasia, Pakistani type
986795	adamtsl4	DOID:0111148 - isolated ectopia lentis|DOID:0111149 - autosomal recessive isolated ectopia lentis 2|DOID:0111648 - ectopia lentis with ectopia of pupil
986804	idua	DOID:0060222 - Scheie syndrome|DOID:0111389 - mucopolysaccharidosis Ih/s|DOID:0111390 - mucopolysaccharidosis Ih|DOID:12802 - mucopolysaccharidosis I
986814	ercc4	DOID:0050427 - xeroderma pigmentosum|DOID:0060590 - XFE progeroid syndrome|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0110848 - xeroderma pigmentosum group F|DOID:0111093 - Fanconi anemia complementation group Q|DOID:13636 - Fanconi anemia
986839	slc6a8	DOID:0050800 - cerebral creatine deficiency syndrome 1
986844	dnm1	DOID:0050561 - Lennox-Gastaut syndrome|DOID:0080437 - developmental and epileptic encephalopathy 31A
986853	sptan1	DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080438 - developmental and epileptic encephalopathy 5|DOID:2481 - infantile epileptic encephalopathy
986871	set	DOID:0060307 - autosomal dominant intellectual developmental disorder
986901	hsd17b10	DOID:0060810 - syndromic X-linked intellectual disability type 10|DOID:0112037 - chromosome Xp11.22 duplication syndrome
986929	tgm5	DOID:0060283 - peeling skin syndrome|DOID:0070520 - peeling skin syndrome 1|DOID:0070521 - peeling skin syndrome 2
986934	slc4a1	DOID:0110919 - hereditary spherocytosis type 4|DOID:12971 - hereditary spherocytosis|DOID:14219 - renal tubular acidosis
986941	g6pc3.2	DOID:0050590 - severe congenital neutropenia|DOID:0112136 - severe congenital neutropenia 4
986947	mapt	DOID:0060892 - late onset Parkinson's disease|DOID:11870 - Pick's disease|DOID:14330 - Parkinson's disease|DOID:678 - progressive supranuclear palsy|DOID:9255 - frontotemporal dementia
986961	taco1	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
986968	pyy	DOID:9970 - obesity
987006	nags	DOID:0112258 - N-acetylglutamate synthase deficiency
987030	cep57	DOID:0080142 - mosaic variegated aneuploidy syndrome 2
987054	tmc1	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110520 - autosomal recessive nonsyndromic deafness 7|DOID:0110563 - autosomal dominant nonsyndromic deafness 36
987087	dock8	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070032 - autosomal dominant intellectual developmental disorder 2|DOID:0080594 - hyper IgE recurrent infection syndrome 2
987117	hyal1	DOID:0050809 - mucopolysaccharidosis IX
987120	glyctk	DOID:0111626 - D-glyceric aciduria
987207	ap3b1	DOID:0060540 - Hermansky-Pudlak syndrome 2
987315	rcbtb1	DOID:0050741 - alcohol dependence
987397	f5	DOID:0111902 - thrombophilia due to activated protein C resistance|DOID:11512 - Budd-Chiari syndrome|DOID:2216 - factor V deficiency|DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease
987402	nme7	DOID:758 - situs inversus
987441	chst8	DOID:0070522 - peeling skin syndrome 3
987475	asl	DOID:14755 - argininosuccinic aciduria
987495	auts2	DOID:0070056 - autosomal dominant intellectual developmental disorder 26
987502	kctd7	DOID:0111446 - progressive myoclonus epilepsy 3|DOID:891 - progressive myoclonus epilepsy
987590	meiob	DOID:0070177 - spermatogenic failure 22
987625	rai1	DOID:0060768 - Smith-Magenis syndrome
987669	psmc3ip	DOID:14450 - 46 XX gonadal dysgenesis
987794	ascc1	DOID:9206 - Barrett's esophagus
987809	cd2ap	DOID:0112245 - focal segmental glomerulosclerosis 3
987873	rab3gap2	DOID:0060237 - Warburg micro syndrome|DOID:0110717 - Warburg micro syndrome 2|DOID:0111586 - Martsolf syndrome
987910	adgrg2	DOID:0111863 - X-linked congenital bilateral absence of vas deferens
987973	jph3	DOID:0090104 - Huntington's disease-like 2
987981	tsc1	DOID:0080324 - tuberous sclerosis 1|DOID:13515 - tuberous sclerosis|DOID:3319 - lymphangioleiomyomatosis
988074	alms1	DOID:0050473 - Alstrom syndrome
988136	myt1l	DOID:0070069 - autosomal dominant intellectual developmental disorder 39
988181	enpp1	DOID:0050644 - arterial calcification of infancy|DOID:0050949 - autosomal recessive hypophosphatemic rickets|DOID:0060887 - ossification of the posterior longitudinal ligament of spine|DOID:2738 - pseudoxanthoma elasticum|DOID:9352 - type 2 diabetes mellitus|DOID:9970 - obesity
988213	gtpbp3	DOID:0111500 - combined oxidative phosphorylation deficiency 23
988220	ap4e1	DOID:0060243 - stuttering|DOID:0110803 - hereditary spastic paraplegia 51
988247	pank2	DOID:3981 - pantothenate kinase-associated neurodegeneration
988271	lipe	DOID:0070206 - familial partial lipodystrophy type 6
988320	irf4	DOID:9538 - multiple myeloma
988438	myo5b	DOID:0060775 - microvillus inclusion disease
988465	cfap53	DOID:0050545 - visceral heterotaxy|DOID:758 - situs inversus
988512	itgb2	DOID:0110910 - leukocyte adhesion deficiency 1
988562	ehhadh	DOID:0090031 - D-bifunctional protein deficiency|DOID:1062 - Fanconi syndrome
988577	tyr	DOID:0050632 - oculocutaneous albinism|DOID:0070094 - oculocutaneous albinism type IA|DOID:0070095 - oculocutaneous albinism type IB|DOID:0090100 - ocular albinism with sensorineural deafness
988585	h6pd	DOID:0090139 - cortisone reductase deficiency|DOID:0090141 - cortisone reductase deficiency 1
988608	cep152	DOID:0050569 - Seckel syndrome|DOID:0070012 - Seckel syndrome 5
988654	d2hgdh	DOID:0050575 - D-2-hydroxyglutaric aciduria
988754	pde6a	DOID:0110379 - retinitis pigmentosa 43|DOID:10584 - retinitis pigmentosa
988818	abcb11.2	DOID:0070222 - progressive familial intrahepatic cholestasis 2|DOID:0070232 - benign recurrent intrahepatic cholestasis 2|DOID:1852 - intrahepatic cholestasis
988823	nsd2	DOID:0050460 - Wolf-Hirschhorn syndrome
988836	nelfa	DOID:0050460 - Wolf-Hirschhorn syndrome
988874	nt5c2	DOID:0110797 - hereditary spastic paraplegia 45
988964	slc17a8	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110555 - autosomal dominant nonsyndromic deafness 25
988986	mypn	DOID:0110445 - dilated cardiomyopathy 1KK|DOID:0110933 - nemaline myopathy 11|DOID:397 - restrictive cardiomyopathy
989021	atoh7	DOID:0060282 - persistent hyperplastic primary vitreous|DOID:0060648 - anterior segment dysgenesis
989046	ccdc39	DOID:0050144 - Kartagener syndrome|DOID:0110598 - primary ciliary dyskinesia 14
989057	opa1	DOID:0111340 - dominant optic atrophy plus syndrome|DOID:0111441 - optic atrophy 1|DOID:0111580 - Behr syndrome|DOID:5723 - optic atrophy
989093	smoc1	DOID:0060861 - microphthalmia with limb anomalies
989205	nsd1	DOID:0112103 - Sotos syndrome 1|DOID:14731 - Weaver syndrome|DOID:14748 - Sotos syndrome|DOID:5572 - Beckwith-Wiedemann syndrome|DOID:9119 - acute myeloid leukemia
989254	oca2	DOID:0050632 - oculocutaneous albinism|DOID:0070096 - oculocutaneous albinism type II
989275	myh3	DOID:0050646 - distal arthrogryposis|DOID:0081321 - contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|DOID:0090116 - spondylocarpotarsal synostosis syndrome|DOID:0111600 - distal arthrogryposis type 2B1|DOID:0111604 - Freeman-Sheldon syndrome|DOID:0111605 - distal arthrogryposis type 2A
989291	cfap52	DOID:758 - situs inversus
989334	ntn1	DOID:0111153 - congenital mirror movement disorder
989358	p3h1	DOID:0110336 - osteogenesis imperfecta type 8|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110341 - osteogenesis imperfecta type 2
989399	tmem70	DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency nuclear type 1|DOID:0060331 - mitochondrial complex V (ATP synthase) deficiency nuclear type 2
989417	itgbl1	DOID:8398 - osteoarthritis
989432	ank3	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081202 - autosomal recessive intellectual developmental disorder 37
989453	pikfyve	DOID:0060448 - Fleck corneal dystrophy
989510	kcnq5	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080237 - autosomal dominant intellectual developmental disorder 46
989520	sec63	DOID:0050770 - polycystic liver disease
989540	ostm1	DOID:0110939 - autosomal recessive osteopetrosis 5|DOID:0110942 - autosomal recessive osteopetrosis 1
989573	plce1	DOID:1184 - nephrotic syndrome
989583	hpse2	DOID:0050816 - urofacial syndrome
989602	cox15	DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0080358 - mitochondrial complex IV deficiency nuclear type 6|DOID:3652 - Leigh disease
989612	vps13a	DOID:0050766 - choreaacanthocytosis
989641	gphn	DOID:0060695 - hyperekplexia|DOID:0060696 - hyperekplexia 1|DOID:0111164 - molybdenum cofactor deficiency type A|DOID:0111166 - molybdenum cofactor deficiency type C
989658	rsph3	DOID:0050144 - Kartagener syndrome|DOID:0110603 - primary ciliary dyskinesia 32
989668	whrn	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110490 - autosomal recessive nonsyndromic deafness 31|DOID:0110827 - Usher syndrome type 2|DOID:0110840 - Usher syndrome type 2D
989700	crb2	DOID:0111134 - focal segmental glomerulosclerosis 9|DOID:0111625 - ventriculomegaly - cystic kidney disease
989761	copa	DOID:0081242 - autoimmune interstitial lung, joint, and kidney disease
989770	dcaf8	DOID:0090069 - giant axonal neuropathy 2
989848	eif2ak3	DOID:0090060 - Wolcott-Rallison syndrome
989886	card14	DOID:8893 - psoriasis|DOID:9212 - pityriasis rubra pilaris
989943	ecel1	DOID:0050646 - distal arthrogryposis|DOID:0111594 - distal arthrogryposis type 5D
989974	chrnd	DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A|DOID:0110665 - congenital myasthenic syndrome 3B
990004	rubcn	DOID:0080057 - autosomal recessive spinocerebellar ataxia 15
990009	chrng	DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome
990020	armc9	DOID:0050777 - Joubert syndrome|DOID:0080275 - Joubert syndrome 30
990030	kynu	DOID:0112257 - hydroxykynureninuria
990047	lamc2	DOID:0060737 - junctional epidermolysis bullosa Herlitz type|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type
990074	kiss1r	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090074 - hypogonadotropic hypogonadism 8 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0112310 - central precocious puberty 1|DOID:3614 - Kallmann syndrome
990088	gpx4	DOID:0112298 - spondylometaphyseal dysplasia Sedaghatian type
990129	abhd12	DOID:0080181 - PHARC syndrome
990195	capn1	DOID:0110821 - hereditary spastic paraplegia 76
990214	drd4	DOID:0060892 - late onset Parkinson's disease|DOID:1094 - attention deficit hyperactivity disorder|DOID:14330 - Parkinson's disease
990236	eps8l2	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080261 - autosomal recessive nonsyndromic deafness 106
990307	dhx38	DOID:10584 - retinitis pigmentosa
990325	dcxr	DOID:0111258 - pentosuria
990377	nek8	DOID:0060259 - renal-hepatic-pancreatic dysplasia|DOID:0111120 - nephronophthisis 9|DOID:0111124 - nephronophthisis 16
990391	best1	DOID:0050661 - vitelliform macular dystrophy|DOID:0050662 - bestrophinopathy|DOID:0110396 - retinitis pigmentosa 50|DOID:0111569 - autosomal dominant vitreoretinochoroidopathy|DOID:10584 - retinitis pigmentosa
990416	ifitm5	DOID:0110344 - osteogenesis imperfecta type 5
990419	sdhaf2	DOID:0050773 - paraganglioma
990499	p2rx7	DOID:1040 - chronic lymphocytic leukemia
990536	ift81	DOID:0080295 - short-rib thoracic dysplasia 19 with or without polydactyly
990616	dock2	DOID:0111951 - immunodeficiency 40
990684	dgke	DOID:0080388 - nephrotic syndrome type 7|DOID:1184 - nephrotic syndrome
990804	spart	DOID:0050886 - Troyer syndrome
990845	ppp2r1a	DOID:0070066 - autosomal dominant intellectual developmental disorder 36
990866	arhgef18	DOID:10584 - retinitis pigmentosa
990891	rdx	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110482 - autosomal recessive nonsyndromic deafness 24
990957	dlec1	DOID:1324 - lung cancer|DOID:5041 - esophageal cancer
990994	rapsn	DOID:0110675 - congenital myasthenic syndrome 11|DOID:0110679 - congenital myasthenic syndrome 4C|DOID:0111377 - fetal akinesia deformation sequence syndrome 1
991084	pah	DOID:9281 - phenylketonuria
991122	cacna2d4	DOID:0050572 - cone-rod dystrophy|DOID:0050795 - cone dystrophy|DOID:0081023 - retinal cone dystrophy 4
991125	cacna1c	DOID:0050451 - Brugada syndrome|DOID:0060173 - Timothy syndrome|DOID:0110220 - Brugada syndrome 3
991167	dzip1l	DOID:0110861 - autosomal recessive polycystic kidney disease
991258	xpc	DOID:0050427 - xeroderma pigmentosum|DOID:0110844 - xeroderma pigmentosum group C
991429	slc24a1	DOID:0050534 - congenital stationary night blindness|DOID:0110868 - congenital stationary night blindness 1D
991467	kbtbd13	DOID:0110935 - nemaline myopathy 6
991470	slc25a26	DOID:0111470 - combined oxidative phosphorylation deficiency 28
991482	tshr	DOID:0070126 - congenital nongoitrous hypothyroidism 1|DOID:0081101 - nonautoimmune hyperthyroidism|DOID:0081102 - familial gestational hyperthyroidism|DOID:7998 - hyperthyroidism
991488	ocrl	DOID:0050699 - Dent disease|DOID:1056 - oculocerebrorenal syndrome
991583	kcna2	DOID:0080416 - developmental and epileptic encephalopathy 32
991600	pgm3	DOID:0111953 - immunodeficiency 23
991669	prdm16	DOID:0060480 - left ventricular noncompaction|DOID:0081157 - dilated cardiomyopathy 1LL
991742	pof1b	DOID:0080859 - primary ovarian insufficiency 2B|DOID:5426 - primary ovarian insufficiency
991800	sacs	DOID:0050946 - Charlevoix-Saguenay spastic ataxia
991848	isca2	DOID:0080136 - multiple mitochondrial dysfunctions syndrome 4
991851	mlh3	DOID:1380 - endometrial cancer|DOID:9256 - colorectal cancer
991974	elp4	DOID:0070532 - aniridia 1|DOID:12271 - aniridia
992091	dcx	DOID:0050453 - lissencephaly|DOID:0111169 - subcortical band heterotopia
992101	ammecr1	DOID:0111859 - midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis|DOID:0111860 - AMME complex
992131	mthfd1	DOID:0080074 - neural tube defect
992147	ltbp4	DOID:0070139 - autosomal recessive cutis laxa type IC|DOID:3144 - cutis laxa
992154	itpkc	DOID:13378 - Kawasaki disease
992238	vipas39	DOID:0050763 - ARC syndrome
992382	slc35d1	DOID:0050775 - schneckenbecken dysplasia
992452	myh7	DOID:0060253 - scapuloperoneal myopathy|DOID:0060480 - left ventricular noncompaction|DOID:0070197 - distal myopathy 1|DOID:0080102 - congenital myopathy 4A|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110454 - dilated cardiomyopathy 1S|DOID:0111268 - autosomal recessive hyaline body myopathy|DOID:0111269 - autosomal dominant hyaline body myopathy|DOID:11720 - distal myopathy|DOID:14289 - Ebstein anomaly
992518	drd5	DOID:1094 - attention deficit hyperactivity disorder|DOID:529 - blepharospasm
992543	evc	DOID:0111571 - Weyers acrofacial dysostosis|DOID:12714 - Ellis-Van Creveld syndrome
992619	dock6	DOID:0060227 - Adams-Oliver syndrome
992649	nfix	DOID:0050858 - Marshall-Smith syndrome|DOID:0112102 - Sotos syndrome 2|DOID:14748 - Sotos syndrome
992717	ciita	DOID:5812 - MHC class II deficiency|DOID:7148 - rheumatoid arthritis
992740	grin2a	DOID:2538 - Landau-Kleffner syndrome|DOID:3329 - benign epilepsy with centrotemporal spikes
992768	dnaaf6	DOID:0111850 - primary ciliary dyskinesia 36
992874	wrn	DOID:5688 - Werner syndrome
992884	aldh1a3	DOID:0060841 - isolated microphthalmia 8
992912	exosc9	DOID:0112323 - pontocerebellar hypoplasia type 1D
992966	iba57	DOID:0080135 - multiple mitochondrial dysfunctions syndrome 3|DOID:0110819 - hereditary spastic paraplegia 74
993051	opn1sw	DOID:11661 - blue color blindness
993110	pex14	DOID:905 - Zellweger syndrome
993190	npr2	DOID:0070316 - Miura type epiphyseal chondrodysplasia|DOID:0080050 - acromesomelic dysplasia, Maroteaux type
993272	ndrg1	DOID:0110186 - Charcot-Marie-Tooth disease type 4D
993288	chst3	DOID:0050813 - spondyloepiphyseal dysplasia with congenital joint dislocations|DOID:0080575 - Larsen-like syndrome B3GAT3 type
993291	wdr11	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090087 - hypogonadotropic hypogonadism 14 with or without anosmia|DOID:3070 - high grade glioma|DOID:3614 - Kallmann syndrome
993312	znf365	DOID:580 - uric acid nephrolithiasis
993327	rtf1	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080566 - congenital disorder of glycosylation In
993367	nmnat1	DOID:0050572 - cone-rod dystrophy|DOID:0110005 - Leber congenital amaurosis 9|DOID:14791 - Leber congenital amaurosis
993390	cacna1g	DOID:0111742 - cerebellar ataxia type 42
993407	xylt2	DOID:2738 - pseudoxanthoma elasticum
993450	rfxap	DOID:5812 - MHC class II deficiency
993454	phf8	DOID:0060812 - syndromic X-linked intellectual disability Siderius type
993469	tsr2	DOID:0111897 - Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|DOID:1339 - Diamond-Blackfan anemia
993561	cstb	DOID:0111452 - progressive myoclonus epilepsy 1A|DOID:3535 - Unverricht-Lundborg syndrome
993641	bcl11b	DOID:0111979 - immunodeficiency 49
993651	tyk2	DOID:0111989 - immunodeficiency 35
993784	pccb	DOID:14701 - propionic acidemia
993851	slc6a5	DOID:0060695 - hyperekplexia|DOID:0060696 - hyperekplexia 1|DOID:0060698 - hyperekplexia 3
993856	wbp2	DOID:0050565 - autosomal recessive nonsyndromic deafness
994031	mpdz	DOID:10908 - hydrocephalus
994038	sra1	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
994076	gpr179	DOID:0050534 - congenital stationary night blindness|DOID:0110869 - congenital stationary night blindness 1E
994114	rusc2	DOID:0080239 - autosomal recessive intellectual developmental disorder 61
994159	comp	DOID:0070303 - multiple epiphyseal dysplasia 1|DOID:0080047 - pseudoachondroplasia|DOID:12721 - multiple epiphyseal dysplasia
994225	pde1c	DOID:0050564 - autosomal dominant nonsyndromic deafness
994243	topors	DOID:0110391 - retinitis pigmentosa 31|DOID:10584 - retinitis pigmentosa
994257	upf3b	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060821 - syndromic X-linked intellectual disability 14
994281	ferry3	DOID:0060308 - autosomal recessive intellectual developmental disorder
994324	tbxas1	DOID:0111047 - platelet-type bleeding disorder 14|DOID:0112251 - Ghosal hematodiaphyseal syndrome
994343	trim24	DOID:3969 - papillary thyroid carcinoma
994353	fbxo7	DOID:0060372 - Parkinson's disease 15
994461	ikzf3	DOID:1040 - chronic lymphocytic leukemia
994490	phka2	DOID:0111042 - glycogen storage disease IXa
994521	tbx22	DOID:0060613 - X-linked cleft palate with or without ankyloglossia|DOID:0111826 - Abruzzo-Erickson syndrome
994579	tmprss3	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110527 - autosomal recessive nonsyndromic deafness 8
994618	eogt	DOID:0060227 - Adams-Oliver syndrome
994627	scn1b	DOID:0050451 - Brugada syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0080455 - developmental and epileptic encephalopathy 52|DOID:0110222 - Brugada syndrome 5|DOID:0111073 - progressive familial heart block|DOID:0111302 - generalized epilepsy with febrile seizures plus 1
994654	fancm	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111095 - Fanconi anemia complementation group A|DOID:0111916 - spermatogenic failure 28|DOID:13636 - Fanconi anemia
994674	crh	DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0080150 - adrenocorticotropic hormone deficiency
994727	phkg2	DOID:0111043 - glycogen storage disease IXc
994750	cers1	DOID:0111451 - progressive myoclonus epilepsy 8
994836	bckdk	DOID:0090126 - branched-chain keto acid dehydrogenase kinase deficiency
994893	lrsam1	DOID:0110169 - Charcot-Marie-Tooth disease axonal type 2P
994912	clpb	DOID:0081133 - 3-methylglutaconic aciduria type 7a|DOID:0081134 - 3-methylglutaconic aciduria type 7b|DOID:0110003 - 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
994975	pde8b	DOID:0060280 - primary pigmented nodular adrenocortical disease|DOID:4751 - striatonigral degeneration
994992	ildr1	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110500 - autosomal recessive nonsyndromic deafness 42
995002	taf4b	DOID:0070182 - spermatogenic failure 13|DOID:14227 - azoospermia
995029	add1	DOID:10825 - essential hypertension
995051	sh3bp2	DOID:1856 - cherubism
995167	clcn7	DOID:0110938 - autosomal dominant osteopetrosis 2|DOID:0110942 - autosomal recessive osteopetrosis 1|DOID:0110944 - autosomal recessive osteopetrosis 4|DOID:0110945 - autosomal recessive osteopetrosis 6
995268	cwf19l1	DOID:0080064 - autosomal recessive spinocerebellar ataxia 17
995290	apc2	DOID:0081218 - autosomal recessive intellectual developmental disorder 74|DOID:0112104 - Sotos syndrome 3|DOID:14748 - Sotos syndrome
995305	ephx1	DOID:10591 - pre-eclampsia
995332	glo1	DOID:12849 - autistic disorder
995375	c1r	DOID:0080986 - Ehlers-Danlos syndrome periodontal type 1
995409	c1s	DOID:0080987 - Ehlers-Danlos syndrome periodontal type 2
995438	stag3	DOID:5426 - primary ovarian insufficiency
995462	stom	DOID:0111562 - overhydrated hereditary stomatocytosis
995487	setd2	DOID:14748 - Sotos syndrome
995560	rab3gap1	DOID:0060237 - Warburg micro syndrome|DOID:0110716 - Warburg micro syndrome 1
995699	cldn14	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110487 - autosomal recessive nonsyndromic deafness 29
995709	grn	DOID:0060672 - Grn-related frontotemporal lobar degeneration with Tdp43 inclusions|DOID:0110732 - neuronal ceroid lipofuscinosis 11
995775	sorl1	DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease
995808	ogg1	DOID:0050387 - nonpapillary renal cell carcinoma
995847	chd4	DOID:0070529 - Sifrim-Hitz-Weiss syndrome
995876	bicd2l	DOID:0070349 - spinal muscular atrophy with lower extremity predominant 2A
995987	tymp	DOID:0080119 - mitochondrial DNA depletion syndrome 1
996012	hgd	DOID:9270 - alkaptonuria
996060	bbs7	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110129 - Bardet-Biedl syndrome 7|DOID:1935 - Bardet-Biedl syndrome
996079	tnfrsf1a	DOID:0090018 - autosomal dominant familial periodic fever
996082	scnn1a	DOID:0050477 - Liddle syndrome|DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1|DOID:9563 - bronchiectasis
996119	cavin1	DOID:0111138 - congenital generalized lipodystrophy type 4
996130	atp1a3	DOID:0050635 - alternating hemiplegia of childhood|DOID:0090056 - dystonia 12
996139	itih4	DOID:13810 - familial hypercholesterolemia
996191	nsmf	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090085 - hypogonadotropic hypogonadism 9 with or without anosmia|DOID:3614 - Kallmann syndrome
996259	slc39a13	DOID:0080739 - Ehlers-Danlos syndrome spondylodysplastic type 3
996349	inpp5k	DOID:0080195 - Marinesco-Sjogren syndrome|DOID:0080197 - congenital muscular dystrophy with cataracts and intellectual disability
996374	ywhae	DOID:0060469 - Miller-Dieker lissencephaly syndrome
996387	polh	DOID:0110847 - xeroderma pigmentosum variant type
996484	coasy	DOID:0110740 - neurodegeneration with brain iron accumulation 6
996571	hcrt	DOID:8986 - narcolepsy
996715	dnajb13	DOID:0050144 - Kartagener syndrome|DOID:0110610 - primary ciliary dyskinesia 34
996764	piga	DOID:0050562 - West syndrome|DOID:0060284 - paroxysmal nocturnal hemoglobinuria|DOID:0080139 - multiple congenital anomalies-hypotonia-seizures syndrome 2
996786	prpf3	DOID:0110356 - retinitis pigmentosa 18|DOID:10584 - retinitis pigmentosa
996800	tars2	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111465 - combined oxidative phosphorylation deficiency 21
996830	necap1	DOID:0080443 - developmental and epileptic encephalopathy 21
996839	atp13a2	DOID:0060556 - Kufor-Rakeb syndrome|DOID:0112348 - hereditary spastic paraplegia 78
996919	kcnc1	DOID:0111447 - progressive myoclonus epilepsy 7
996922	abcc8	DOID:0050524 - maturity-onset diabetes of the young|DOID:0060334 - transient neonatal diabetes mellitus|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0070219 - familial hyperinsulinemic hypoglycemia 1|DOID:0112262 - leucine-sensitive hypoglycemia of infancy|DOID:13317 - hyperinsulinemic hypoglycemia|DOID:9352 - type 2 diabetes mellitus
996930	ptpro	DOID:1184 - nephrotic syndrome
996935	eps8	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110463 - autosomal recessive nonsyndromic deafness 102
997012	gp9	DOID:2217 - Bernard-Soulier syndrome
997154	kif1c	DOID:0050941 - spastic ataxia 2
997186	atp6ap1.2	DOID:0112002 - immunodeficiency 47
997224	adk	DOID:0111038 - hypermethioninemia due to adenosine kinase deficiency
997236	mocs1	DOID:0111164 - molybdenum cofactor deficiency type A
997245	blmh	DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease
997255	ganab	DOID:0110860 - polycystic kidney disease 3|DOID:898 - autosomal dominant polycystic kidney disease
997313	cln3	DOID:0110731 - neuronal ceroid lipofuscinosis 3
997324	tpp1	DOID:0080059 - autosomal recessive spinocerebellar ataxia 7|DOID:0110726 - neuronal ceroid lipofuscinosis 2
997398	slc26a2	DOID:0050648 - atelosteogenesis|DOID:0070300 - multiple epiphyseal dysplasia 4|DOID:0080055 - achondrogenesis type IB|DOID:12721 - multiple epiphyseal dysplasia|DOID:14687 - diastrophic dysplasia
997412	col9a3	DOID:12721 - multiple epiphyseal dysplasia
997461	suz12	DOID:14731 - Weaver syndrome
997487	ndufs3	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease
997646	khk	DOID:0111680 - essential fructosuria
997693	smpd1	DOID:0070111 - Niemann-Pick disease type A|DOID:0070112 - Niemann-Pick disease type B
997712	prpf6	DOID:0110411 - retinitis pigmentosa 60|DOID:10584 - retinitis pigmentosa
997730	eif2b4	DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1
997813	recql4	DOID:0050654 - Baller-Gerold syndrome|DOID:0050774 - rapadilino syndrome|DOID:2732 - Rothmund-Thomson syndrome
997996	orc1	DOID:0060306 - Meier-Gorlin syndrome
998105	pik3ca	DOID:0080351 - CLOVES syndrome|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0081001 - Cowden syndrome 5|DOID:0111162 - epidermal nevus|DOID:10534 - stomach cancer|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:2394 - ovarian cancer|DOID:6457 - Cowden syndrome|DOID:6498 - seborrheic keratosis|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
998136	mutyh	DOID:0050424 - familial adenomatous polyposis|DOID:0080410 - familial adenomatous polyposis 2|DOID:0080764 - hereditary diffuse gastric cancer|DOID:10534 - stomach cancer|DOID:5374 - pilomatrixoma
998159	c8b	DOID:0060302 - type II complement component 8 deficiency
998177	dock7	DOID:0080415 - developmental and epileptic encephalopathy 23
998186	alg6	DOID:0050570 - congenital disorder of glycosylation type I
998202	myf6	DOID:11723 - Duchenne muscular dystrophy|DOID:14717 - centronuclear myopathy
998270	katnb1	DOID:0112236 - lissencephaly 6
998505	lztr1	DOID:0060580 - Noonan syndrome 2|DOID:0060588 - Noonan syndrome 10|DOID:0070481 - schwannomatosis 2|DOID:3071 - gliosarcoma|DOID:3074 - giant cell glioblastoma|DOID:3204 - schwannomatosis|DOID:3490 - Noonan syndrome
998595	cox7b	DOID:0111808 - linear skin defects with multiple congenital anomalies 1|DOID:0111877 - linear skin defects with multiple congenital anomalies 2|DOID:10629 - microphthalmia
998605	magt1	DOID:0050776 - non-syndromic X-linked intellectual disability
998614	tnpo3	DOID:0110304 - autosomal dominant limb-girdle muscular dystrophy type 2
998623	irf5	DOID:0110895 - inflammatory bowel disease 14
998736	slitrk1	DOID:0050587 - trichotillomania|DOID:11119 - Gilles de la Tourette syndrome
998778	aimp2	DOID:0070404 - hypomyelinating leukodystrophy 17
998792	pms2	DOID:0112182 - mismatch repair cancer syndrome|DOID:3883 - Lynch syndrome
998836	col6a3	DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy|DOID:0090050 - dystonia 27
998843	mlph	DOID:0060834 - Griscelli syndrome type 3
998848	ugt1a1	DOID:2739 - Gilbert syndrome|DOID:3803 - Crigler-Najjar syndrome
998855	col6a1	DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy|DOID:0060887 - ossification of the posterior longitudinal ligament of spine
998864	elmod2	DOID:0050156 - idiopathic pulmonary fibrosis
998875	mfsd8	DOID:0110722 - neuronal ceroid lipofuscinosis 7
998882	mmab	DOID:0060743 - methylmalonic acidemia cblB type
998891	mvk	DOID:0050452 - mevalonic aciduria
998898	trpv4	DOID:0050690 - brachyolmia|DOID:0110182 - Charcot-Marie-Tooth disease axonal type 2C|DOID:0111215 - autosomal dominant distal hereditary motor neuronopathy 8|DOID:0111514 - metatropic dysplasia|DOID:0111539 - parastremmatic dwarfism|DOID:0111552 - scapuloperoneal spinal muscular atrophy|DOID:0111553 - spondyloepiphyseal dysplasia Maroteaux type|DOID:0111554 - spondylometaphyseal dysplasia Kozlowski type
998916	crybb1	DOID:0110235 - cataract 2 multiple types|DOID:0110270 - cataract 17 multiple types
998931	cryba4	DOID:0110271 - cataract 23
998942	dgcr6	DOID:12583 - velocardiofacial syndrome
998968	pmm2	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080552 - congenital disorder of glycosylation Ia
999122	ncf1	DOID:0070192 - autosomal recessive chronic granulomatous disease 1|DOID:3265 - chronic granulomatous disease
999130	gm2a	DOID:4795 - GM2 gangliosidosis, AB variant
999159	slc3a1	DOID:0060858 - hypotonia-cystinuria syndrome|DOID:9266 - cystinuria
999203	mrps34	DOID:0111492 - combined oxidative phosphorylation deficiency 32
999238	anks3	DOID:758 - situs inversus
999311	dpp6	DOID:0070063 - autosomal dominant intellectual developmental disorder 33|DOID:14725 - autosomal dominant microcephaly
999330	rpl27	DOID:0111893 - Diamond-Blackfan anemia 16
999342	adra2b	DOID:0111692 - familial adult myoclonic epilepsy 2
999347	nup133	DOID:0060364 - Galloway-Mowat syndrome 1
999354	lman2l	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081215 - autosomal recessive intellectual developmental disorder 52
999368	cnnm2	DOID:0060884 - renal hypomagnesemia 6
999399	elmod3	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110533 - autosomal recessive nonsyndromic deafness 88
999438	phf6	DOID:0050681 - Borjeson-Forssman-Lehmann syndrome
999485	ap2s1	DOID:0060702 - familial hypocalciuric hypercalcemia 3
999529	uros	DOID:13271 - cutaneous porphyria
999540	tti2	DOID:0060308 - autosomal recessive intellectual developmental disorder
999723	star	DOID:0050811 - congenital adrenal hyperplasia
999780	sec23a	DOID:0070307 - craniolenticulosutural dysplasia
999943	ndufaf3	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
999973	mcm2	DOID:0050564 - autosomal dominant nonsyndromic deafness
999986	tmprss15	DOID:0111667 - enterokinase deficiency
999991	hgf	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110497 - autosomal recessive nonsyndromic deafness 39
999998	pmpcb	DOID:0070332 - multiple mitochondrial dysfunctions syndrome 6
1000031	slc26a5	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110513 - autosomal recessive nonsyndromic deafness 61
1000058	yme1l1	DOID:0111436 - optic atrophy 11
1000106	galc	DOID:10587 - Krabbe disease
1000121	ttc8	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110130 - Bardet-Biedl syndrome 8|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome
1000271	mrpl44	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111469 - combined oxidative phosphorylation deficiency 16
1000282	mrps22	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111473 - combined oxidative phosphorylation deficiency 5|DOID:14450 - 46 XX gonadal dysgenesis
1000377	ppip5k2	DOID:0050565 - autosomal recessive nonsyndromic deafness
1000397	gabra2	DOID:0050741 - alcohol dependence
1000414	phox2b	DOID:0060731 - congenital central hypoventilation syndrome
1000431	uchl1	DOID:0060892 - late onset Parkinson's disease|DOID:0112344 - hereditary spastic paraplegia 79B|DOID:14330 - Parkinson's disease
1000464	lrat	DOID:0110188 - Leber congenital amaurosis 14|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
1000475	ercc8	DOID:0060240 - UV-sensitive syndrome|DOID:0080907 - Cockayne syndrome A|DOID:2962 - Cockayne syndrome
1000496	KIAA0753	DOID:0060376 - Joubert syndrome with orofaciodigital defect
1000547	pola1	DOID:0050769 - N syndrome|DOID:0111834 - X-linked reticulate pigmentary disorder
1000590	galns	DOID:0111391 - mucopolysaccharidosis IVA|DOID:12804 - mucopolysaccharidosis IV
1000615	fanca	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111095 - Fanconi anemia complementation group A|DOID:13636 - Fanconi anemia
1000683	pfkm	DOID:11721 - glycogen storage disease VII
1000784	aco2	DOID:0050883 - infantile cerebellar-retinal degeneration|DOID:0111442 - optic atrophy 9
1000801	dpyd	DOID:14218 - dihydropyrimidine dehydrogenase deficiency
1000809	abca4	DOID:0050572 - cone-rod dystrophy|DOID:0050817 - Stargardt disease|DOID:0110015 - age related macular degeneration 2|DOID:0110354 - retinitis pigmentosa 19|DOID:0111013 - cone-rod dystrophy 3|DOID:10584 - retinitis pigmentosa
1000976	rpl11	DOID:0111878 - Diamond-Blackfan anemia 7|DOID:1339 - Diamond-Blackfan anemia
1001003	mtr	DOID:0050567 - orofacial cleft|DOID:0050733 - methylmalonic aciduria and homocystinuria type cblG|DOID:0080074 - neural tube defect|DOID:0080395 - orofacial cleft 1|DOID:0112256 - homocystinuria-megaloblastic anemia cblG type|DOID:14250 - Down syndrome
1001032	slc35a1	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070258 - congenital disorder of glycosylation type IIf
1001068	hnmt	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081214 - autosomal recessive intellectual developmental disorder 51|DOID:2841 - asthma
1001094	cyp27a1.4	DOID:4810 - cerebrotendinous xanthomatosis
1001118	abcb6	DOID:0060304 - dyschromatosis universalis hereditaria
1001125	glb1	DOID:0080502 - GM1 gangliosidosis type 1|DOID:0111392 - mucopolysaccharidosis type IVB|DOID:12804 - mucopolysaccharidosis IV|DOID:3322 - GM1 gangliosidosis
1001137	lct.2	DOID:0111646 - congenital lactase deficiency|DOID:10604 - lactose intolerance
1001142	abca1	DOID:0080957 - primary hypoalphalipoproteinemia 1|DOID:13810 - familial hypercholesterolemia|DOID:1388 - Tangier disease
1001222	polr1d	DOID:2908 - Treacher Collins syndrome
1001243	pcyt1a	DOID:0112300 - spondylometaphyseal dysplasia with cone-rod dystrophy|DOID:14791 - Leber congenital amaurosis
1001394	mib1	DOID:0060480 - left ventricular noncompaction
1001428	agl	DOID:2748 - glycogen storage disease III
1001453	itpa	DOID:0080458 - developmental and epileptic encephalopathy 35
1001463	tyrp1	DOID:0050632 - oculocutaneous albinism|DOID:0070097 - oculocutaneous albinism type III
1001538	adsl	DOID:0050762 - adenylosuccinase lyase deficiency
1001554	ift27	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:1935 - Bardet-Biedl syndrome
1001621	aga	DOID:0050461 - aspartylglucosaminuria
1001645	slc25a4	DOID:0080130 - mitochondrial DNA depletion syndrome 12a|DOID:0080132 - Sengers syndrome|DOID:0080335 - mitochondrial DNA depletion syndrome 12b|DOID:0111517 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2|DOID:0111521 - autosomal dominant progressive external ophthalmoplegia 1
1001684	morc2	DOID:0110181 - Charcot-Marie-Tooth disease axonal type 2Z
1001718	nop10	DOID:0070015 - autosomal recessive dyskeratosis congenita 1|DOID:2729 - dyskeratosis congenita
1001763	gemin4	DOID:0081263 - neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
1001771	nxn	DOID:0060764 - autosomal recessive Robinow syndrome
1001789	pdlim4	DOID:11476 - osteoporosis
1001869	serpinb6	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110536 - autosomal recessive nonsyndromic deafness 91
1002013	hmgb3	DOID:0111811 - syndromic microphthalmia 13
1002029	mtm1	DOID:0111225 - centronuclear myopathy X-linked|DOID:14717 - centronuclear myopathy
1002041	stra6	DOID:0050819 - obsolete Matthew-Wood syndrome|DOID:0111807 - syndromic microphthalmia 9|DOID:10629 - microphthalmia
1002049	loxl1	DOID:13641 - exfoliation syndrome
1002099	slc25a12	DOID:0080349 - developmental and epileptic encephalopathy 39
1002141	dhdds	DOID:0110352 - retinitis pigmentosa 59|DOID:10584 - retinitis pigmentosa
1002199	rd3	DOID:0110080 - Leber congenital amaurosis 12|DOID:14791 - Leber congenital amaurosis
1002204	cenpf	DOID:0110595 - Stromme syndrome
1002221	myh9	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060651 - MYH-9 related disease|DOID:0110548 - autosomal dominant nonsyndromic deafness 17
1002242	hmox1	DOID:3083 - chronic obstructive pulmonary disease
1002261	ndufa6	DOID:0060536 - mitochondrial complex I deficiency
1002380	cartpt	DOID:9970 - obesity
1002396	hexb	DOID:3323 - Sandhoff disease
1002413	cert1	DOID:0070064 - autosomal dominant intellectual developmental disorder 34
1002425	dst	DOID:0070151 - hereditary sensory and autonomic neuropathy type 6|DOID:4644 - epidermolysis bullosa simplex
1002434	gclc	DOID:0111681 - glutamate-cysteine ligase deficiency
1002493	nono	DOID:0060817 - syndromic X-linked intellectual disability 34
1002595	fbp1	DOID:5204 - fructose-1,6-bisphosphatase deficiency
1002678	dnase1l3	DOID:9074 - systemic lupus erythematosus
1002731	ccdc65	DOID:0050144 - Kartagener syndrome|DOID:0110611 - primary ciliary dyskinesia 27
1002738	thpo	DOID:2224 - essential thrombocythemia
1002763	klhl15	DOID:0112020 - non-syndromic X-linked intellectual disability 103
1002780	sat1	DOID:0080754 - X-linked keratosis follicularis spinulosa decalvans
1002815	tnc	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110581 - autosomal dominant nonsyndromic deafness 56
1002842	pafah1b1	DOID:0050453 - lissencephaly|DOID:0060469 - Miller-Dieker lissencephaly syndrome|DOID:0111169 - subcortical band heterotopia|DOID:0112237 - lissencephaly 1
1002899	nfu1	DOID:0080133 - multiple mitochondrial dysfunctions syndrome 1
1002955	cfl2	DOID:0110934 - nemaline myopathy 7
1003053	tecr	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081188 - autosomal recessive intellectual developmental disorder 14
1003102	parn	DOID:0070024 - autosomal recessive dyskeratosis congenita 6|DOID:2729 - dyskeratosis congenita
1003138	bgn	DOID:0111861 - Meester-Loeys syndrome|DOID:0112150 - X-linked spondyloepimetaphyseal dysplasia
1003153	dpm2	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080571 - congenital disorder of glycosylation Iu
1003263	gnat1	DOID:0050534 - congenital stationary night blindness|DOID:0110714 - congenital stationary night blindness 1G|DOID:0110715 - congenital stationary night blindness autosomal dominant 3
1003363	sec24d	DOID:0060438 - Cole-Carpenter syndrome
1003483	slc7a9	DOID:9266 - cystinuria
1003505	sbds	DOID:0060479 - Shwachman-Diamond syndrome|DOID:0080023 - obsolete Shwachman-Diamond type metaphyseal dysplasia|DOID:12449 - aplastic anemia
1003541	zbtb18	DOID:0070052 - autosomal dominant intellectual developmental disorder 22
1003555	nid1	DOID:2785 - Dandy-Walker syndrome
1003562	coa6	DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0080360 - mitochondrial complex IV deficiency nuclear type 13
1003589	flcn	DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0050676 - Birt-Hogg-Dube syndrome|DOID:0060853 - Potocki-Lupski syndrome|DOID:0080218 - primary spontaneous pneumothorax|DOID:9256 - colorectal cancer
1003599	top3a	DOID:0111524 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
1003643	gne	DOID:0080718 - GNE myopathy|DOID:3429 - inclusion body myositis|DOID:3659 - sialuria
1003795	vrk1	DOID:0060265 - pontocerebellar hypoplasia type 1A
1003891	lca5	DOID:0110215 - Leber congenital amaurosis 5|DOID:14791 - Leber congenital amaurosis
1003993	med23	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081190 - autosomal recessive intellectual developmental disorder 18
1004043	micos13	DOID:0110004 - 3-methylglutaconic aciduria type 3
1004062	rfxank	DOID:5812 - MHC class II deficiency
1004081	dmxl2	DOID:0050564 - autosomal dominant nonsyndromic deafness
1004101	myo5a	DOID:0060832 - Griscelli syndrome type 1|DOID:0060834 - Griscelli syndrome type 3
1004119	megf8	DOID:0060234 - Carpenter syndrome
1004149	f13a1	DOID:0080701 - prothrombin thrombophilia|DOID:0111907 - thrombophilia due to thrombin defect|DOID:2211 - factor XIII deficiency|DOID:2452 - thrombophilia
1004156	txnl4a	DOID:0080695 - Burn-McKeown syndrome
1004317	impa1	DOID:0081221 - autosomal recessive intellectual developmental disorder 59
1004402	ppargc1b	DOID:9970 - obesity
1004430	frem2	DOID:0090001 - Fraser syndrome|DOID:0111405 - Fraser syndrome 1|DOID:0111407 - Fraser syndrome 2
1004442	rnaseh2b	DOID:0050629 - Aicardi-Goutieres syndrome
1004467	sbf2	DOID:0110190 - Charcot-Marie-Tooth disease type 4B2
1004599	msn	DOID:0112001 - immunodeficiency 50
1004769	lama4	DOID:0110438 - dilated cardiomyopathy 1JJ
1004810	f12	DOID:0080940 - hereditary angioedema type III|DOID:14735 - hereditary angioedema|DOID:2231 - factor XII deficiency
1004832	nt5c3a	DOID:583 - hemolytic anemia
1004857	pmp22	DOID:0050540 - Charcot-Marie-Tooth disease type 3|DOID:0060843 - hereditary neuropathy with liability to pressure palsies|DOID:0110148 - Charcot-Marie-Tooth disease type 1A|DOID:0110153 - Charcot-Marie-Tooth disease type 1E|DOID:12842 - Guillain-Barre syndrome
1004879	sptlc1	DOID:0070152 - hereditary sensory and autonomic neuropathy type 1A|DOID:0070162 - hereditary sensory and autonomic neuropathy type 1
1004922	nsdhl	DOID:0111822 - CHILD syndrome|DOID:0111898 - CK syndrome
1004944	trpa1	DOID:0111729 - familial episodic pain syndrome 1
1004993	idh1	DOID:0060221 - Maffucci syndrome|DOID:3070 - high grade glioma|DOID:4624 - Ollier disease
1005055	zfyve26	DOID:0110768 - hereditary spastic paraplegia 15
1005104	serpinh1	DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110346 - osteogenesis imperfecta type 10|DOID:0111144 - preterm premature rupture of the membranes
1005159	polr1a	DOID:0060353 - acrofacial dysostosis Cincinnati type
1005168	slc1a2	DOID:0060892 - late onset Parkinson's disease|DOID:0080442 - developmental and epileptic encephalopathy 41
1005173	sgsh	DOID:0111395 - mucopolysaccharidosis type IIIA|DOID:12801 - mucopolysaccharidosis III
1005315	park7	DOID:0060370 - Parkinson's disease 7|DOID:0060894 - early-onset Parkinson's disease
1005346	piezo2	DOID:0050646 - distal arthrogryposis|DOID:0111607 - distal arthrogryposis type 3|DOID:0111608 - distal arthrogryposis type 5
1005401	mthfr	DOID:0050567 - orofacial cleft|DOID:0080074 - neural tube defect|DOID:0080395 - orofacial cleft 1|DOID:0080701 - prothrombin thrombophilia|DOID:0111907 - thrombophilia due to thrombin defect|DOID:2452 - thrombophilia|DOID:5419 - schizophrenia|DOID:9263 - homocystinuria
1005435	pmfbp1	DOID:0111922 - spermatogenic failure 31
1005535	trim28	DOID:2154 - nephroblastoma
1005583	xk	DOID:0112107 - McLeod syndrome
1005590	myo1e	DOID:0111131 - focal segmental glomerulosclerosis 6
1005615	nde1	DOID:0050453 - lissencephaly|DOID:0112235 - lissencephaly 4|DOID:4626 - hydranencephaly
1005706	oat.2	DOID:1415 - gyrate atrophy
1005778	drd2	DOID:0090034 - myoclonic dystonia 11
1006118	dguok	DOID:0080121 - mitochondrial DNA depletion syndrome 3|DOID:0111516 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
1006141	atp6v1e1	DOID:0070136 - autosomal dominant cutis laxa 2|DOID:0070140 - autosomal recessive cutis laxa type IIC
1006154	stag1	DOID:0080238 - autosomal dominant intellectual developmental disorder 47
1006169	sos2	DOID:0060587 - Noonan syndrome 9|DOID:3490 - Noonan syndrome
1006199	otof	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110535 - autosomal recessive nonsyndromic deafness 9
1006253	ap1s2	DOID:0060800 - syndromic X-linked intellectual disability 5
1006265	ctns	DOID:1064 - cystinosis
1006302	rpl18	DOID:1339 - Diamond-Blackfan anemia
1006361	alg1	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080563 - congenital disorder of glycosylation Ik
1006448	plod2	DOID:0060231 - Bruck syndrome
1006487	sod1	DOID:0060193 - amyotrophic lateral sclerosis type 1|DOID:332 - amyotrophic lateral sclerosis
1006523	col9a2	DOID:12721 - multiple epiphyseal dysplasia
1006596	nup107	DOID:0060364 - Galloway-Mowat syndrome 1|DOID:14450 - 46 XX gonadal dysgenesis
1006626	ndufa11	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
1006660	mipep	DOID:0111488 - combined oxidative phosphorylation deficiency 31
1006786	trim8	DOID:0050709 - early infantile epileptic encephalopathy
1006796	cyp17a1	DOID:0050811 - congenital adrenal hyperplasia
1006823	pld3	DOID:0110051 - Alzheimer's disease 19
1006846	prx	DOID:0050540 - Charcot-Marie-Tooth disease type 3|DOID:0110193 - Charcot-Marie-Tooth disease type 4F
1006905	pomt2	DOID:0050560 - Walker-Warburg syndrome|DOID:0110298 - autosomal recessive limb-girdle muscular dystrophy type 2N|DOID:0112380 - muscular dystrophy-dystroglycanopathy type B2
1006993	ednra	DOID:0060365 - mandibulofacial dysostosis with alopecia|DOID:6364 - migraine
1007048	pabpn1	DOID:11719 - oculopharyngeal muscular dystrophy
1007110	fkbp10	DOID:0060231 - Bruck syndrome|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110351 - osteogenesis imperfecta type 11
1007277	hadh	DOID:0070215 - familial hyperinsulinemic hypoglycemia 4|DOID:13317 - hyperinsulinemic hypoglycemia
1007289	cyp2u1	DOID:0110808 - hereditary spastic paraplegia 56
1007366	b4gat1	DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1
1007449	cyp2a6.9	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
1007461	b9d2	DOID:0050778 - Meckel syndrome
1007471	bckdha	DOID:9269 - maple syrup urine disease
1007522	mecr	DOID:0081419 - childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
1007544	psap	DOID:0110961 - atypical Gaucher's disease due to saposin c deficiency|DOID:0111330 - combined saposin deficiency|DOID:10581 - metachromatic leukodystrophy
1007617	ndufaf1	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
1007652	nipal4	DOID:0060715 - autosomal recessive congenital ichthyosis 6|DOID:1699 - congenital ichthyosiform erythroderma
1007917	ercc6	DOID:0060240 - UV-sensitive syndrome|DOID:0080868 - primary ovarian insufficiency 11|DOID:0080908 - Cockayne syndrome B|DOID:0112158 - De Sanctis-Cacchione syndrome|DOID:1324 - lung cancer|DOID:2962 - Cockayne syndrome
1007973	rpgrip1	DOID:0050572 - cone-rod dystrophy|DOID:0110329 - Leber congenital amaurosis 6|DOID:0111016 - cone-rod dystrophy 13|DOID:14791 - Leber congenital amaurosis
1008006	dnajc21	DOID:0060479 - Shwachman-Diamond syndrome|DOID:0080023 - obsolete Shwachman-Diamond type metaphyseal dysplasia
1008071	unc13d	DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1|DOID:0110923 - familial hemophagocytic lymphohistiocytosis 3
1008077	acox1	DOID:0050797 - peroxisomal acyl-CoA oxidase deficiency
1008098	rad21	DOID:0080508 - Cornelia de Lange syndrome 4|DOID:11725 - Cornelia de Lange syndrome
1008313	med17	DOID:0111262 - infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
1008433	map3k1	DOID:0111769 - 46,XY sex reversal 6|DOID:14448 - 46,XY sex reversal
1008464	ndufa1	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
1008511	neurod2	DOID:0050709 - early infantile epileptic encephalopathy
1008561	mgme1	DOID:0080129 - mitochondrial DNA depletion syndrome 11
1008568	prps1	DOID:0050566 - X-linked nonsyndromic deafness|DOID:0050647 - Arts syndrome|DOID:0110210 - Charcot-Marie-Tooth disease X-linked recessive 5|DOID:0111260 - phosphoribosylpyrophosphate synthetase superactivity|DOID:0111739 - X-linked deafness 1
1008579	plp1	DOID:0110773 - hereditary spastic paraplegia 2|DOID:3210 - Pelizaeus-Merzbacher disease
1008595	gla	DOID:14499 - Fabry disease
1008637	ncoa4	DOID:3969 - papillary thyroid carcinoma
1008649	frg1	DOID:11727 - facioscapulohumeral muscular dystrophy
1008676	ivd	DOID:14753 - isovaleric acidemia
1008689	sptbn2	DOID:0050882 - spinocerebellar ataxia type 5|DOID:0080058 - autosomal recessive spinocerebellar ataxia 14
1008757	thap1	DOID:0090039 - torsion dystonia 6
1008783	st14	DOID:0060720 - autosomal recessive congenital ichthyosis 11
1008798	rbp3	DOID:0110393 - retinitis pigmentosa 66|DOID:10584 - retinitis pigmentosa
1008840	hsd3b7	DOID:0111071 - congenital bile acid synthesis defect 1
1008969	clp1	DOID:0060279 - pontocerebellar hypoplasia type 10
1008981	ndufs7	DOID:0060536 - mitochondrial complex I deficiency|DOID:3652 - Leigh disease
1009042	sh3pxd2b	DOID:0111789 - Frank-Ter Haar syndrome
1009050	ap1s1	DOID:0060483 - MEDNIK syndrome
1009062	pex5	DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:0110854 - rhizomelic chondrodysplasia punctata type 5|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
1009088	hal.2	DOID:0060168 - histidinemia
1009101	rxylt1	DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1
1009303	hlcs	DOID:859 - holocarboxylase synthetase deficiency
1009306	vps26c	DOID:14250 - Down syndrome
1009577	itga2b	DOID:0060691 - platelet-type bleeding disorder 16|DOID:2219 - Glanzmann's thrombasthenia
1009588	amacr	DOID:0060602 - alpha-methylacyl-CoA racemase deficiency|DOID:0111068 - congenital bile acid synthesis defect 4
1009629	sparc	DOID:0110338 - osteogenesis imperfecta type 17|DOID:0110340 - osteogenesis imperfecta type 4
1009672	hadhb	DOID:0111277 - mitochondrial trifunctional protein deficiency
1009681	atl3	DOID:0070154 - hereditary sensory neuropathy type 1F|DOID:0070162 - hereditary sensory and autonomic neuropathy type 1
1009690	glud1	DOID:0070217 - familial hyperinsulinemic hypoglycemia 6|DOID:13317 - hyperinsulinemic hypoglycemia
1009701	ndufs6	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
1009724	ophn1	DOID:0050888 - syndromic intellectual disability
1009747	c4h19orf12	DOID:0110738 - neurodegeneration with brain iron accumulation 4|DOID:0110795 - hereditary spastic paraplegia 43
1009819	ercc3	DOID:0050427 - xeroderma pigmentosum|DOID:0110850 - xeroderma pigmentosum group B|DOID:0111869 - photosensitive trichothiodystrophy 2|DOID:0111873 - photosensitive trichothiodystrophy 1|DOID:2960 - photosensitive trichothiodystrophy
1009839	mapk10	DOID:0050561 - Lennox-Gastaut syndrome
1009885	myo1c	DOID:0050564 - autosomal dominant nonsyndromic deafness
1009900	polr1c	DOID:0060792 - hypomyelinating leukodystrophy 11|DOID:0080791 - Treacher Collins syndrome 3|DOID:2908 - Treacher Collins syndrome
1009953	crtap	DOID:0110337 - osteogenesis imperfecta type 7|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110341 - osteogenesis imperfecta type 2
1009963	itgb3	DOID:0060691 - platelet-type bleeding disorder 16|DOID:2219 - Glanzmann's thrombasthenia
1009974	myt1	DOID:2907 - Goldenhar syndrome
1009984	polg2	DOID:0111525 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
1010011	adgrv1	DOID:0110827 - Usher syndrome type 2|DOID:0110839 - Usher syndrome type 2C|DOID:0111305 - familial febrile seizures 4
1010018	ufc1	DOID:0070421 - neurodevelopmental disorder with spasticity and poor growth
1010028	ppox	DOID:4346 - variegate porphyria
1010080	ucp2	DOID:9970 - obesity
1010169	csrp3	DOID:0110318 - hypertrophic cardiomyopathy 12|DOID:0110449 - dilated cardiomyopathy 1M
1010194	tafazzin	DOID:0050476 - Barth syndrome
1010205	cps1	DOID:13042 - persistent fetal circulation syndrome|DOID:9280 - carbamoyl phosphate synthetase I deficiency disease
1010242	b3gat3	DOID:0080575 - Larsen-like syndrome B3GAT3 type
1010260	cdk5	DOID:0112231 - lissencephaly 7 with cerebellar hypoplasia
1010281	emc1	DOID:0081276 - cerebellar atrophy, visual impairment, and psychomotor retardation
1010300	alpl	DOID:0110913 - adult hypophosphatasia|DOID:0110914 - infantile hypophosphatasia|DOID:0110915 - childhood hypophosphatasia
1010353	arid1b	DOID:0070042 - Coffin-Siris syndrome 1|DOID:1925 - Coffin-Siris syndrome
1010360	pdcd10	DOID:0060671 - cerebral cavernous malformation 3
1010370	slc7a14	DOID:0110374 - retinitis pigmentosa 68|DOID:10584 - retinitis pigmentosa
1010387	dab1	DOID:0050984 - spinocerebellar ataxia type 37
1010392	nfia	DOID:0060409 - NFIA-related disorder
1010419	phkb	DOID:0111041 - glycogen storage disease IXb
1010431	hsd17b4	DOID:0050857 - Perrault syndrome|DOID:0090031 - D-bifunctional protein deficiency
1010482	gria3	DOID:0060823 - syndromic X-linked intellectual disability 94
1010488	atp7a	DOID:0111196 - X-linked distal spinal muscular atrophy 3|DOID:0111272 - occipital horn syndrome|DOID:1838 - Menkes disease
1010562	ube3b	DOID:0111456 - Kaufman oculocerebrofacial syndrome
1010579	f13b	DOID:2211 - factor XIII deficiency
1010590	trmu	DOID:0080778 - transient infantile liver failure|DOID:0111734 - aminoglycoside-induced deafness
1010598	kif21a	DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0081015 - congenital fibrosis of the extraocular muscles 1
1010661	kcna1	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0050989 - episodic ataxia type 1|DOID:0090053 - episodic kinesigenic dyskinesia 1
1010697	abca3	DOID:12120 - pulmonary alveolar proteinosis
1010760	ogdh	DOID:0081326 - oxoglutarate dehydrogenase deficiency
1010799	nhlrc1	DOID:3534 - Lafora disease
1010817	plat	DOID:0111906 - thrombophilia due to decreased release of PLAT
1010833	usp9x	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112025 - female-restricted syndromic X-linked intellectual disability 99|DOID:0112026 - non-syndromic X-linked intellectual disability 99
1010840	bcor	DOID:0111799 - syndromic microphthalmia 1|DOID:0111809 - syndromic microphthalmia 2|DOID:10629 - microphthalmia|DOID:4880 - kidney clear cell sarcoma
1010856	bub1b	DOID:0080141 - mosaic variegated aneuploidy syndrome 1|DOID:9256 - colorectal cancer
1011013	lamb1	DOID:0050453 - lissencephaly|DOID:0112230 - lissencephaly 5
1011020	ankh	DOID:0080033 - craniometaphyseal dysplasia|DOID:0080801 - autosomal dominant craniometaphyseal dysplasia|DOID:1156 - chondrocalcinosis
1011097	mme	DOID:0110160 - Charcot-Marie-Tooth disease axonal type 2T|DOID:0111745 - cerebellar ataxia type 43
1011110	ifih1	DOID:0050629 - Aicardi-Goutieres syndrome|DOID:0110756 - type 1 diabetes mellitus 19|DOID:12361 - Graves' disease|DOID:7997 - thyrotoxicosis
1011133	gpd2	DOID:9352 - type 2 diabetes mellitus
1011169	atg16l1	DOID:0110885 - inflammatory bowel disease 10
1011225	mmut	DOID:0060740 - methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
1011236	efhc1	DOID:4890 - juvenile myoclonic epilepsy
1011276	ankrd11	DOID:14780 - KBG syndrome
1011285	ddit3	DOID:5363 - myxoid liposarcoma
1011298	scn8a	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060169 - benign familial infantile epilepsy|DOID:0081118 - benign familial infantile seizures 5
1011369	ofd1	DOID:0050144 - Kartagener syndrome|DOID:0060248 - Simpson-Golabi-Behmel syndrome type 1|DOID:0060316 - orofaciodigital syndrome I|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0080342 - Simpson-Golabi-Behmel syndrome type 2|DOID:0110981 - Joubert syndrome 10|DOID:10584 - retinitis pigmentosa
1011379	ppm1d	DOID:1612 - breast cancer
1011390	oprm1	DOID:1827 - idiopathic generalized epilepsy
1011398	sos1	DOID:0060466 - gingival fibromatosis|DOID:0060582 - Noonan syndrome 4|DOID:3490 - Noonan syndrome
1011413	rgr	DOID:0110394 - retinitis pigmentosa 44|DOID:10584 - retinitis pigmentosa
1011450	nrg1	DOID:0070082 - schizophrenia 6
1011463	rxfp2	DOID:11383 - cryptorchidism
1011466	pex16	DOID:905 - Zellweger syndrome
1011480	mcm4	DOID:0111967 - immunodeficiency 54
1011543	slc1a1	DOID:0060650 - dicarboxylic aminoaciduria|DOID:0070093 - schizophrenia 18
1011572	tmprss6	DOID:11252 - microcytic anemia
1011588	pole	DOID:0050885 - IMAGe syndrome
1011597	pnp	DOID:5813 - purine nucleoside phosphorylase deficiency
1011609	vps53	DOID:0060271 - pontocerebellar hypoplasia type 2E
1011614	rgs9bp	DOID:0050335 - bradyopsia|DOID:0070363 - bradyopsia 1
1011627	tcf4	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0060488 - Pitt-Hopkins syndrome|DOID:11555 - Fuchs' endothelial dystrophy
1011656	rdh5	DOID:11105 - fundus albipunctatus
1011698	gad1	DOID:10970 - spastic quadriplegic cerebral palsy
1011719	hhat	DOID:0060644 - chondrodysplasia-pseudohermaphroditism syndrome
1011733	glrb	DOID:0060695 - hyperekplexia|DOID:0060696 - hyperekplexia 1|DOID:0060697 - hyperekplexia 2
1011740	slc39a8	DOID:0070266 - congenital disorder of glycosylation type IIn
1011747	mttp	DOID:1386 - abetalipoproteinemia|DOID:14221 - abdominal obesity-metabolic syndrome 1
1011782	efnb1	DOID:14737 - craniofrontonasal syndrome
1011795	fan1	DOID:0060911 - karyomegalic interstitial nephritis|DOID:3883 - Lynch syndrome
1011803	tmem231	DOID:0050778 - Meckel syndrome|DOID:0060373 - orofaciodigital syndrome III|DOID:0110980 - Joubert syndrome 1|DOID:0110989 - Joubert syndrome 20
1011827	tspan12	DOID:0050535 - exudative vitreoretinopathy|DOID:0111408 - exudative vitreoretinopathy 5
1011869	c1qtnf5	DOID:0060869 - late-onset retinal degeneration
1011877	tecta	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110479 - autosomal recessive nonsyndromic deafness 21|DOID:0110544 - autosomal dominant nonsyndromic deafness 12
1011882	rnaseh1	DOID:0111515 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
1011958	trim32	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110133 - Bardet-Biedl syndrome 11|DOID:0110282 - autosomal recessive limb-girdle muscular dystrophy type 2H|DOID:1935 - Bardet-Biedl syndrome
1011979	arhgap26	DOID:0050458 - juvenile myelomonocytic leukemia
1012012	slc26a1	DOID:0080652 - calcium oxalate nephrolithiasis
1012023	lrrc8a	DOID:0081136 - agammaglobulinemia 1|DOID:2583 - agammaglobulinemia
1012038	ak1	DOID:583 - hemolytic anemia
1012075	trpc6	DOID:0111129 - focal segmental glomerulosclerosis 2
1012124	arl11	DOID:1040 - chronic lymphocytic leukemia
1012149	lyst	DOID:2935 - Chediak-Higashi syndrome
1012155	b3galnt2	DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0060308 - autosomal recessive intellectual developmental disorder
1012187	kcnj2	DOID:0050434 - Andersen-Tawil syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0050793 - short QT syndrome
1012191	cog1	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070259 - congenital disorder of glycosylation type IIg
1012201	septin9	DOID:10383 - amyotrophic neuralgia
1012246	phex	DOID:0050445 - X-linked dominant hypophosphatemic rickets
1012294	col12a1	DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy
1012302	myo6	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110495 - autosomal recessive nonsyndromic deafness 37|DOID:0110552 - autosomal dominant nonsyndromic deafness 22
1012311	itpr3	DOID:9744 - type 1 diabetes mellitus
1012343	wdr72	DOID:0110061 - amelogenesis imperfecta hypomaturation type 2A3
1012364	ripk1	DOID:0111952 - immunodeficiency 57
1012377	zfyve27	DOID:0110784 - hereditary spastic paraplegia 33
1012402	ano3	DOID:0090052 - dystonia 24
1012454	cacnb4	DOID:0050993 - episodic ataxia type 5|DOID:1827 - idiopathic generalized epilepsy|DOID:4890 - juvenile myoclonic epilepsy
1012479	orc4	DOID:0060306 - Meier-Gorlin syndrome
1012530	mid2	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112048 - non-syndromic X-linked intellectual disability 101
1012536	efemp1	DOID:0060745 - Doyne honeycomb retinal dystrophy
1012539	stox1	DOID:10591 - pre-eclampsia
1012629	rev3l	DOID:13501 - Moebius syndrome
1012637	grk1	DOID:0110712 - Oguchi disease-1|DOID:0110713 - Oguchi disease-2
1012658	herc2	DOID:0081203 - autosomal recessive intellectual developmental disorder 38|DOID:11983 - Prader-Willi syndrome
1012701	kera	DOID:0060287 - cornea plana
1012704	nalcn	DOID:0081048 - congenital limbs-face contractures-hypotonia-developmental delay syndrome
1012721	atr	DOID:0050569 - Seckel syndrome|DOID:0070007 - Seckel syndrome 1
1012748	polr3a	DOID:0060794 - hypomyelinating leukodystrophy 7
1012758	rims1	DOID:0050572 - cone-rod dystrophy|DOID:0111012 - cone-rod dystrophy 7
1012764	atg5	DOID:0080259 - autosomal recessive spinocerebellar ataxia 25
1012783	slc16a12	DOID:0070353 - cataract 47
1012795	abcc2	DOID:12308 - Dubin-Johnson syndrome
1012825	hsd11b2	DOID:0090121 - apparent mineralocorticoid excess|DOID:4367 - apparent mineralocorticoid excess syndrome
1012863	slc25a22	DOID:0050709 - early infantile epileptic encephalopathy|DOID:2481 - infantile epileptic encephalopathy|DOID:308 - early myoclonic encephalopathy
1012932	atp2a2	DOID:0050606 - acrokeratosis verruciformis|DOID:2734 - keratosis follicularis
1012945	clip1	DOID:0060308 - autosomal recessive intellectual developmental disorder
1013001	kcnn4	DOID:0111577 - dehydrated hereditary stomatocytosis 2
1013004	aldh5a1	DOID:0060175 - succinic semialdehyde dehydrogenase deficiency
1013017	dcdc2	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0111126 - nephronophthisis 19|DOID:4428 - dyslexia
1013035	cenpj	DOID:0050569 - Seckel syndrome|DOID:10907 - microcephaly
1013053	plcd1	DOID:0080081 - nonsyndromic congenital nail disorder 3
1013087	gan	DOID:0090068 - giant axonal neuropathy 1
1013099	pde4d	DOID:0060421 - chromosome 5q12 deletion syndrome|DOID:14669 - acrodysostosis
1013139	akap10	DOID:0111073 - progressive familial heart block
1013148	trpv3	DOID:0111711 - focal nonepidermolytic palmoplantar keratoderma 2|DOID:0112013 - autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
1013166	dse	DOID:0080735 - Ehlers-Danlos syndrome kyphoscoliotic type 2|DOID:0080737 - Ehlers-Danlos syndrome musculocontractural type 2
1013199	ngf	DOID:0070145 - hereditary sensory and autonomic neuropathy type 5
1013274	lonp1	DOID:0111274 - CODAS syndrome
1013330	slc25a13	DOID:0070341 - neonatal-onset type II citrullinemia|DOID:0070342 - adult-onset type II citrullinemia|DOID:9273 - citrullinemia
1013376	ap3b2	DOID:0080448 - developmental and epileptic encephalopathy 48
1013409	sts	DOID:1700 - X-linked ichthyosis
1013421	tgm1	DOID:0060656 - autosomal recessive congenital ichthyosis 1|DOID:0060710 - autosomal recessive congenital ichthyosis 2|DOID:1699 - congenital ichthyosiform erythroderma
1013461	htt	DOID:12858 - Huntington's disease
1013491	ntf4	DOID:1067 - open-angle glaucoma
1013508	ryr1	DOID:0080102 - congenital myopathy 4A|DOID:0080990 - King Denborough syndrome|DOID:0080991 - congenital myopathy 1B|DOID:3529 - congenital myopathy 1A|DOID:8545 - malignant hyperthermia
1013528	efemp2	DOID:0070133 - autosomal recessive cutis laxa type IB|DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:0070144 - autosomal recessive cutis laxa type I|DOID:3144 - cutis laxa
1013536	adamts9	DOID:0111112 - nephronophthisis 1
1013543	sbf1	DOID:0110194 - Charcot-Marie-Tooth disease type 4B3
1013576	pex13	DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
1013590	kif1b	DOID:0050771 - pheochromocytoma|DOID:0110154 - Charcot-Marie-Tooth disease type 2A1
1013606	ush1g	DOID:0110826 - Usher syndrome type 1|DOID:0110834 - Usher syndrome type 1G
1013620	clint1	DOID:0070077 - schizophrenia 1
1013661	itgb4	DOID:0060733 - junctional epidermolysis bullosa with pyloric atresia|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type
1013666	trps1	DOID:0080376 - trichorhinophalangeal syndrome type III|DOID:14743 - trichorhinophalangeal syndrome type I|DOID:4998 - trichorhinophalangeal syndrome type II
1013714	fermt3	DOID:0110912 - leukocyte adhesion deficiency 3
1013764	tcap	DOID:0110281 - autosomal recessive limb-girdle muscular dystrophy type 2G|DOID:0110328 - hypertrophic cardiomyopathy 25
1013830	cacna1a	DOID:0050956 - spinocerebellar ataxia type 6|DOID:0050990 - episodic ataxia type 2|DOID:0060178 - familial hemiplegic migraine|DOID:0111181 - familial hemiplegic migraine 1
1013836	inppl1a	DOID:0050775 - schneckenbecken dysplasia
1013839	cacna1f	DOID:0050534 - congenital stationary night blindness|DOID:0050572 - cone-rod dystrophy|DOID:0050630 - Aland Island eye disease|DOID:0110871 - congenital stationary night blindness 2A|DOID:0111007 - X-linked cone-rod dystrophy 3
1013861	cdan1	DOID:0111398 - congenital dyserythropoietic anemia type Ia|DOID:1338 - congenital dyserythropoietic anemia
1013882	lgi4	DOID:0080978 - arthrogryposis multiplex congenita-1
1013892	chrna2	DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060685 - autosomal dominant nocturnal frontal lobe epilepsy 4|DOID:0081119 - benign familial infantile seizures 6
1013917	srgap1	DOID:3962 - follicular thyroid carcinoma
1013936	ccm2	DOID:0060670 - cerebral cavernous malformation 2
1013971	tenm4	DOID:0111432 - essential tremor 5
1013988	cyp2r1	DOID:0080887 - vitamin D-dependent rickets type 1B|DOID:10609 - rickets
1014027	shank3	DOID:0070091 - schizophrenia 15|DOID:0080354 - Phelan-McDermid syndrome
1014030	arsa.2	DOID:10581 - metachromatic leukodystrophy
1014038	trpc3	DOID:0111744 - cerebellar ataxia type 41
1014069	msh3	DOID:0080412 - familial adenomatous polyposis 4|DOID:1380 - endometrial cancer
1014101	gucy2d	DOID:0050572 - cone-rod dystrophy|DOID:0110078 - Leber congenital amaurosis 1|DOID:0111010 - cone-rod dystrophy 5|DOID:0111011 - cone-rod dystrophy 6|DOID:14791 - Leber congenital amaurosis|DOID:980 - choroidal sclerosis
1014190	snca	DOID:0060367 - Parkinson's disease 1|DOID:0060372 - Parkinson's disease 15|DOID:0060892 - late onset Parkinson's disease|DOID:0060895 - Parkinson's disease 4|DOID:12217 - Lewy body dementia
1014201	braf	DOID:0060233 - cardiofaciocutaneous syndrome|DOID:0060578 - Noonan syndrome 1|DOID:0060585 - Noonan syndrome 7|DOID:0080550 - Noonan syndrome with multiple lentigines 3|DOID:0111460 - cardiofaciocutaneous syndrome 1|DOID:1324 - lung cancer|DOID:14291 - Noonan syndrome with multiple lentigines|DOID:2571 - Langerhans-cell histiocytosis|DOID:285 - hairy cell leukemia|DOID:3490 - Noonan syndrome|DOID:3840 - craniopharyngioma|DOID:4845 - pilomyxoid astrocytoma
1014217	ece1	DOID:10825 - essential hypertension
1014227	znf513	DOID:0110362 - retinitis pigmentosa 58|DOID:10584 - retinitis pigmentosa
1014320	rnf216	DOID:0111587 - Gordon Holmes syndrome
1014330	gtf2h5	DOID:0111871 - photosensitive trichothiodystrophy 3|DOID:0111873 - photosensitive trichothiodystrophy 1|DOID:2960 - photosensitive trichothiodystrophy
1014399	fa2h	DOID:0110786 - hereditary spastic paraplegia 35
1014426	hint1	DOID:0050526 - Gamstorp-Wohlfart syndrome
1014459	arl13b	DOID:0050777 - Joubert syndrome|DOID:0111003 - Joubert syndrome 8
1014565	slc16a1	DOID:0070214 - familial hyperinsulinemic hypoglycemia 7|DOID:13317 - hyperinsulinemic hypoglycemia
1014639	calm2	DOID:0050451 - Brugada syndrome|DOID:0110644 - long QT syndrome 1|DOID:0110656 - long QT syndrome 15
1014656	lrpprc	DOID:0111180 - French Canadian Leigh disease|DOID:3652 - Leigh disease
1014667	ctsa	DOID:0080540 - galactosialidosis
1014678	hprt1	DOID:0112127 - HRPT-related hyperuricemia|DOID:1919 - Lesch-Nyhan syndrome
1014699	bloc1s3	DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060546 - Hermansky-Pudlak syndrome 8
1014724	cask	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060807 - syndromic X-linked intellectual disability Najm type|DOID:14711 - FG syndrome|DOID:2861 - congenital nonspherocytic hemolytic anemia
1014748	pigt	DOID:0060284 - paroxysmal nocturnal hemoglobinuria|DOID:0080140 - multiple congenital anomalies-hypotonia-seizures syndrome 3
1014824	golga5	DOID:3969 - papillary thyroid carcinoma
1014835	ift80	DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110086 - asphyxiating thoracic dystrophy 2|DOID:9249 - Beemer-Langer syndrome
1014859	crppa	DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0110295 - autosomal recessive limb-girdle muscular dystrophy type 2U
1014887	cdt1	DOID:0060306 - Meier-Gorlin syndrome
1014973	rad51d	DOID:5683 - hereditary breast ovarian cancer syndrome
1014985	pex12	DOID:0050444 - infantile Refsum disease|DOID:0081241 - peroxisome biogenesis disorder 3B|DOID:10582 - Refsum disease|DOID:905 - Zellweger syndrome
1015026	bcs1l	DOID:0050677 - Bjornstad syndrome|DOID:0080111 - mitochondrial complex III deficiency nuclear type 1|DOID:0111139 - mitochondrial complex III deficiency|DOID:0111455 - GRACILE syndrome|DOID:3652 - Leigh disease
1015037	ift74	DOID:0081011 - Bardet-Biedl syndrome 22
1015056	slc20a2	DOID:0060230 - basal ganglia calcification
1015067	aptx	DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0050754 - ataxia with oculomotor apraxia type 1|DOID:0070238 - primary coenzyme Q10 deficiency 1
1015081	b4galt1.2	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070256 - congenital disorder of glycosylation type IId
1015142	rft1	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080566 - congenital disorder of glycosylation In
1015190	rad51c	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111096 - Fanconi anemia complementation group O|DOID:13636 - Fanconi anemia|DOID:5683 - hereditary breast ovarian cancer syndrome
1015245	ca12	DOID:0111371 - isolated hyperchlorhidrosis
1015288	kdf1	DOID:0111652 - ectodermal dysplasia 12
1015380	tctn2	DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0070122 - Meckel syndrome 8|DOID:0110980 - Joubert syndrome 1|DOID:0110993 - Joubert syndrome 24
1015465	mipol1	DOID:0111350 - Laurin-Sandrow syndrome
1015578	irf2bp2	DOID:0081156 - common variable immunodeficiency 14
1015697	pex7	DOID:0110851 - rhizomelic chondrodysplasia punctata type 1|DOID:10582 - Refsum disease
1015706	lmbrd1	DOID:0050717 - methylmalonic aciduria and homocystinuria type cblF
1015768	dag1	DOID:0050560 - Walker-Warburg syndrome|DOID:0110293 - autosomal recessive limb-girdle muscular dystrophy type 2P
1015786	tmem237	DOID:0050777 - Joubert syndrome|DOID:0110980 - Joubert syndrome 1|DOID:0110983 - Joubert syndrome 14|DOID:0110999 - Joubert syndrome 4
1015945	xpr1	DOID:0060230 - basal ganglia calcification
1015956	pik3r5	DOID:0050755 - spinocerebellar ataxia with axonal neuropathy 2|DOID:0060557 - ataxia with oculomotor apraxia type 3
1016002	cbfb	DOID:9119 - acute myeloid leukemia
1016012	psat1	DOID:0050723 - PSAT deficiency|DOID:0080075 - Neu-Laxova syndrome 2
1016045	pycr1	DOID:0070137 - autosomal recessive cutis laxa type IIB|DOID:0070138 - autosomal recessive cutis laxa type IIIB|DOID:3144 - cutis laxa
1016057	rpl35a	DOID:0111883 - Diamond-Blackfan anemia 5|DOID:1339 - Diamond-Blackfan anemia
1016149	champ1	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070070 - autosomal dominant intellectual developmental disorder 40
1016213	rps29	DOID:0111889 - Diamond-Blackfan anemia 13|DOID:1339 - Diamond-Blackfan anemia
1016249	aspa	DOID:3613 - Canavan disease
1016321	flvcr2	DOID:0111666 - proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
1016349	sem1	DOID:0090021 - split hand-foot malformation 1
1016372	rps17	DOID:0111890 - Diamond-Blackfan anemia 4|DOID:1339 - Diamond-Blackfan anemia
1016446	gcdh	DOID:0111254 - glutaric acidemia I
1016596	plekha1	DOID:0110014 - age related macular degeneration 1
1016617	pex2	DOID:0050444 - infantile Refsum disease|DOID:0081241 - peroxisome biogenesis disorder 3B|DOID:10582 - Refsum disease|DOID:905 - Zellweger syndrome
1016660	homer2	DOID:0050564 - autosomal dominant nonsyndromic deafness
1016740	xrcc3	DOID:1612 - breast cancer
1016829	zdhhc9	DOID:0060824 - syndromic X-linked intellectual disability Raymond type
1016871	aifm1	DOID:0110212 - Charcot-Marie-Tooth disease X-linked recessive 4|DOID:0111502 - combined oxidative phosphorylation deficiency 6|DOID:0111741 - X-linked deafness 5
1016880	rad51	DOID:0111153 - congenital mirror movement disorder|DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer
1017029	litaf	DOID:0110151 - Charcot-Marie-Tooth disease type 1C
1017104	dyrk1a	DOID:0070037 - autosomal dominant intellectual developmental disorder 7
1017115	egln1	DOID:0080338 - familial erythrocytosis 3
1017280	trim36	DOID:0060668 - anencephaly
1018148	rag2	DOID:0060010 - Omenn syndrome|DOID:0090013 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive|DOID:0112253 - combined cellular and humoral immune defects with granulomas
1018164	rb1	DOID:11054 - urinary bladder cancer|DOID:3347 - osteosarcoma|DOID:3376 - bone osteosarcoma|DOID:4648 - familial retinoblastoma|DOID:5409 - lung small cell carcinoma|DOID:768 - retinoblastoma
1018212	calr	DOID:2224 - essential thrombocythemia|DOID:4971 - myelofibrosis
1018230	tbx3	DOID:0060614 - ulnar-mammary syndrome
1018295	fgfr2	DOID:0050331 - lacrimoauriculodentodigital syndrome 1|DOID:0050462 - Antley-Bixler syndrome with disordered steroidogenesis|DOID:0050660 - Beare-Stevenson cutis gyrata syndrome|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0081290 - Antley-Bixler syndrome without disordered steroidogenesis|DOID:0111337 - Jackson-Weiss syndrome|DOID:10534 - stomach cancer|DOID:10591 - pre-eclampsia|DOID:12960 - acrocephalosyndactylia|DOID:14705 - Pfeiffer syndrome|DOID:14768 - Saethre-Chotzen syndrome|DOID:2339 - Crouzon syndrome
1018316	pth	DOID:0111387 - familial isolated hypoparathyroidism|DOID:11199 - hypoparathyroidism
1018321	msmb	DOID:10283 - prostate cancer
1018329	mtnr1b	DOID:9352 - type 2 diabetes mellitus
1018381	msmb.2	DOID:10283 - prostate cancer
1018395	msmb.3	DOID:10283 - prostate cancer
1018417	mc1r	DOID:0050632 - oculocutaneous albinism|DOID:0070096 - oculocutaneous albinism type II|DOID:10611 - protein-losing enteropathy
1018461	mtnr1a	DOID:0060041 - autism spectrum disorder
1018490	ush1c	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110473 - autosomal recessive nonsyndromic deafness 18A|DOID:0110826 - Usher syndrome type 1|DOID:0110830 - Usher syndrome type 1C
1018553	fgfr1	DOID:0050591 - tooth agenesis|DOID:0060857 - septooptic dysplasia|DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090083 - hypogonadotropic hypogonadism 2 with or without anosmia|DOID:0111337 - Jackson-Weiss syndrome|DOID:0111532 - osteoglophonic dysplasia|DOID:14705 - Pfeiffer syndrome|DOID:3614 - Kallmann syndrome|DOID:4845 - pilomyxoid astrocytoma
1019543	f8	DOID:12134 - factor VIII deficiency
1019570	npm1	DOID:2729 - dyskeratosis congenita|DOID:9119 - acute myeloid leukemia
1020975	stat3.2	DOID:0050751 - T-cell large granular lymphocyte leukemia|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:3261 - hyper IgE recurrent infection syndrome 1|DOID:7465 - chronic NK-cell lymphocytosis
1032880	lpin1	DOID:0080108 - myoglobinuria
1032934	cyld	DOID:0050693 - Brooke-Spiegler syndrome
1032966	ascl1	DOID:0060731 - congenital central hypoventilation syndrome
1033024	kdm5c	DOID:0060809 - syndromic X-linked intellectual disability Claes-Jensen type
1033059	fance	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111084 - Fanconi anemia complementation group E|DOID:13636 - Fanconi anemia
1033685	ccdc88c	DOID:0050986 - spinocerebellar ataxia type 40|DOID:10908 - hydrocephalus
1033867	ptch2	DOID:0050902 - medulloblastoma|DOID:0070365 - nevoid basal cell carcinoma syndrome 1|DOID:2512 - nevoid basal cell carcinoma syndrome|DOID:2513 - basal cell carcinoma
1034768	sox9	DOID:0050463 - campomelic dysplasia|DOID:0111775 - 46,XY sex reversal 10|DOID:14448 - 46,XY sex reversal
1113171	pcdh19	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060848 - developmental and epileptic encephalopathy 9
1194371	foxh1	DOID:0110881 - holoprosencephaly 1
1214886	slc26a2.2	DOID:0050648 - atelosteogenesis|DOID:0070300 - multiple epiphyseal dysplasia 4|DOID:0080055 - achondrogenesis type IB|DOID:12721 - multiple epiphyseal dysplasia|DOID:14687 - diastrophic dysplasia
1216135	ubtf.2	DOID:0070474 - childhood-onset neurodegeneration with brain atrophy
1216164	trim33	DOID:3969 - papillary thyroid carcinoma
1216226	deaf1	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070054 - Vulto-van Silfout-de Vries syndrome
1217436	gtf2i	DOID:1928 - Williams-Beuren syndrome
1217487	cel.2	DOID:0050524 - maturity-onset diabetes of the young|DOID:0111105 - maturity-onset diabetes of the young type 8
1217591	pbx1	DOID:0112359 - congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
1219003	pdgfrl.2	DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
1219041	avpr2c	DOID:0081060 - X-linked nephrogenic diabetes insipidus|DOID:0112121 - nephrogenic syndrome of inappropriate antidiuresis|DOID:12387 - nephrogenic diabetes insipidus
1219065	znf238.2	DOID:0070052 - autosomal dominant intellectual developmental disorder 22
1219320	krt12.5	DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1
1221136	invs	DOID:0050576 - Senior-Loken syndrome|DOID:0111113 - nephronophthisis 2|DOID:0111124 - nephronophthisis 16
1221148	ift140	DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110097 - short-rib thoracic dysplasia 9 with or without polydactyly|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
1221170	ift172	DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110091 - short-rib thoracic dysplasia 10 with or without polydactyly|DOID:0110363 - retinitis pigmentosa 71|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome
1221179	mks1	DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0070115 - Meckel syndrome 1|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110135 - Bardet-Biedl syndrome 13|DOID:0110997 - Joubert syndrome 28|DOID:1935 - Bardet-Biedl syndrome
1221197	cep290	DOID:0050576 - Senior-Loken syndrome|DOID:0050778 - Meckel syndrome|DOID:0070118 - Meckel syndrome 4|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110136 - Bardet-Biedl syndrome 14|DOID:0110291 - Leber congenital amaurosis 10|DOID:0111000 - Joubert syndrome 5|DOID:14791 - Leber congenital amaurosis|DOID:1935 - Bardet-Biedl syndrome
1221321	gldc	DOID:9268 - glycine encephalopathy
5471042	prf1	DOID:0060060 - non-Hodgkin lymphoma|DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1|DOID:0110922 - familial hemophagocytic lymphohistiocytosis 2|DOID:12449 - aplastic anemia
5721344	wwox	DOID:0080060 - autosomal recessive spinocerebellar ataxia 12|DOID:5041 - esophageal cancer
5721916	tcirg1	DOID:0110942 - autosomal recessive osteopetrosis 1|DOID:0110945 - autosomal recessive osteopetrosis 6
5725314	cdk5rap2	DOID:10907 - microcephaly
5729290	dym	DOID:0060247 - Smith-McCort dysplasia|DOID:0081270 - Smith-McCort dysplasia 1|DOID:0111167 - Dyggve-Melchior-Clausen disease
5730171	ndufa12	DOID:3652 - Leigh disease
5730848	vma21	DOID:0050760 - X-linked myopathy with excessive autophagy
5731974	tinf2	DOID:0070014 - autosomal dominant dyskeratosis congenita 1|DOID:0070018 - autosomal dominant dyskeratosis congenita 3|DOID:0070026 - Revesz syndrome|DOID:2729 - dyskeratosis congenita
5732457	slc19a3.2	DOID:0090117 - thiamine-responsive megaloblastic anemia syndrome
5732838	adh1b	DOID:0050741 - alcohol dependence
5732937	tulp1	DOID:0110189 - Leber congenital amaurosis 15|DOID:0110381 - retinitis pigmentosa 14|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis
5733377	rbmx	DOID:0060826 - syndromic X-linked intellectual disability Shashi type
5733928	csnk1d	DOID:0050628 - advanced sleep phase syndrome|DOID:0110012 - advanced sleep phase syndrome 2
5735053	lhfpl5	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110518 - autosomal recessive nonsyndromic deafness 67
5737413	lmod3	DOID:0110931 - nemaline myopathy 10
5742861	fth1	DOID:0111031 - hemochromatosis type 5
5744487	mttp.2	DOID:1386 - abetalipoproteinemia|DOID:14221 - abdominal obesity-metabolic syndrome 1
5745249	banf1	DOID:0081334 - Nestor-Guillermo progeria syndrome
5747741	pfn1	DOID:0060209 - amyotrophic lateral sclerosis type 18|DOID:332 - amyotrophic lateral sclerosis
5749320	picalm	DOID:9119 - acute myeloid leukemia
5749721	tprkb	DOID:0060364 - Galloway-Mowat syndrome 1|DOID:0080247 - Galloway-Mowat syndrome 5
5749882	maoa	DOID:0060693 - Brunner Syndrome
5750414	znhit3	DOID:0080539 - PEHO syndrome
5750707	sugct	DOID:0112246 - glutaric acidemia type 3
5751032	bpnt2	DOID:0112224 - chondrodysplasia with joint dislocations gPAPP type
5751246	tgfbi	DOID:0060444 - granular corneal dystrophy 2|DOID:0060447 - epithelial basement membrane dystrophy|DOID:0060453 - Reis-Bucklers corneal dystrophy|DOID:0060455 - Thiel-Behnke corneal dystrophy
5751696	guca1al	DOID:0050572 - cone-rod dystrophy|DOID:0050795 - cone dystrophy|DOID:0080314 - cone-rod dystrophy 14
5752258	bicd2	DOID:0070349 - spinal muscular atrophy with lower extremity predominant 2A
5752361	elp2	DOID:0081220 - autosomal recessive intellectual developmental disorder 58
5752621	pdyn	DOID:0050973 - spinocerebellar ataxia type 23
5753498	dnah9	DOID:0050144 - Kartagener syndrome|DOID:758 - situs inversus
5753572	gnrhr	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090091 - hypogonadotropic hypogonadism 23 with or without anosmia
5753697	casq1	DOID:0080089 - tubular aggregate myopathy 1
5754722	cbs	DOID:9263 - homocystinuria
5755356	slc2a1	DOID:0090044 - dystonia 9|DOID:0090045 - glucose transporter type 1 deficiency syndrome 2|DOID:1825 - childhood absence epilepsy
5755862	mtmr14	DOID:14717 - centronuclear myopathy
5756124	cradd.2	DOID:0060308 - autosomal recessive intellectual developmental disorder
5756230	cxcr1	DOID:635 - acquired immunodeficiency syndrome
5757853	brwd3	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112045 - non-syndromic X-linked intellectual disability 93
5758497	ptpn3	DOID:4947 - cholangiocarcinoma
5759105	vcl	DOID:0110321 - hypertrophic cardiomyopathy 15|DOID:0110446 - dilated cardiomyopathy 1W
5759990	was	DOID:0050590 - severe congenital neutropenia|DOID:0112128 - X-linked severe congenital neutropenia|DOID:1588 - thrombocytopenia|DOID:9169 - Wiskott-Aldrich syndrome
5760120	myh2	DOID:0080719 - congenital myopathy 6|DOID:3429 - inclusion body myositis
5760737	dyrk1a.2	DOID:0070037 - autosomal dominant intellectual developmental disorder 7
5760843	kansl1	DOID:0050880 - Koolen de Vries syndrome|DOID:0070076 - obsolete Koolen-De Vries syndrome
5761258	epha2	DOID:0110229 - cataract 6 multiple types
5761533	dgat1	DOID:0060778 - congenital diarrhea 7 with exudative enteropathy
5761764	fbln1	DOID:0060242 - synpolydactyly
5761968	dync2h1	DOID:0050549 - obsolete Saldino-Noonan syndrome|DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110087 - asphyxiating thoracic dystrophy 3
5762129	apcdd1	DOID:0110698 - hypotrichosis 1
5764341	l2hgdh	DOID:0050574 - L-2-hydroxyglutaric aciduria
5764717	sycp3	DOID:0070176 - spermatogenic failure 4|DOID:14227 - azoospermia
5764739	cyp2a6.7	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
5764769	gypc	DOID:2373 - hereditary elliptocytosis
5765248	rnf168	DOID:0090113 - RIDDLE syndrome
5765420	chek2	DOID:0111504 - Li-Fraumeni syndrome 2|DOID:10283 - prostate cancer|DOID:1612 - breast cancer|DOID:3012 - Li-Fraumeni syndrome|DOID:3347 - osteosarcoma|DOID:3376 - bone osteosarcoma
5765473	g6pc1.2	DOID:2749 - glycogen storage disease Ia
5765544	aldh18a1	DOID:0070131 - autosomal dominant cutis laxa 3|DOID:0070132 - autosomal recessive cutis laxa type IIIA|DOID:0070142 - autosomal dominant cutis laxa|DOID:0110824 - hereditary spastic paraplegia 9A|DOID:0110825 - hereditary spastic paraplegia 9B|DOID:3144 - cutis laxa
5766173	dkc1	DOID:0070025 - X-linked dyskeratosis congenita|DOID:2729 - dyskeratosis congenita
5766973	slc38a8	DOID:0070531 - foveal hypoplasia 2
5768571	lrrk2	DOID:0060371 - Parkinson's disease 8|DOID:0060892 - late onset Parkinson's disease
5768779	slc6a8l	DOID:0050800 - cerebral creatine deficiency syndrome 1
5770296	cpt1al	DOID:0090129 - carnitine palmitoyltransferase I deficiency
5770340	xpnpep3	DOID:0111117 - nephronophthisis-like nephropathy 1
5770562	capn10	DOID:9352 - type 2 diabetes mellitus
5770602	cspp1	DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0110990 - Joubert syndrome 21
5771152	eef2.2	DOID:0050975 - spinocerebellar ataxia type 26
5771974	coa5	DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:0080359 - mitochondrial complex IV deficiency nuclear type 9|DOID:3762 - cytochrome-c oxidase deficiency disease
5776261	prss1	DOID:4989 - pancreatitis
5777076	rit1	DOID:0060586 - Noonan syndrome 8|DOID:3490 - Noonan syndrome
5777344	kcnj10	DOID:0050332 - enlarged vestibular aqueduct|DOID:0060484 - EAST syndrome|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4
5777819	alg12	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080559 - congenital disorder of glycosylation Ig
5779937	atad1	DOID:0060695 - hyperekplexia
5780939	fam149b1	DOID:0060376 - Joubert syndrome with orofaciodigital defect
5781988	washc5	DOID:0060565 - Ritscher-Schinzel syndrome|DOID:0060571 - Ritscher-Schinzel syndrome 1|DOID:0110823 - hereditary spastic paraplegia 8
5783231	pigy	DOID:0070437 - hyperphosphatasia with impaired intellectual development syndrome 6
5784155	pet100	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
5784172	cox6a2	DOID:3762 - cytochrome-c oxidase deficiency disease
5784448	cth	DOID:0090142 - cystathioninuria
5784935	ddost	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080569 - congenital disorder of glycosylation Ir
5785405	taf13	DOID:0081222 - autosomal recessive intellectual developmental disorder 60
5786074	sigmar1	DOID:0060207 - amyotrophic lateral sclerosis type 16|DOID:0111065 - autosomal recessive distal hereditary motor neuronopathy 2
5786977	lss	DOID:0110267 - cataract 44
5787185	f7	DOID:2215 - factor VII deficiency
5787258	igh	DOID:0050746 - mantle cell lymphoma
5789581	rnf170	DOID:0111170 - autosomal dominant sensory ataxia 1
5790347	ctrc	DOID:4989 - pancreatitis
5791256	tbc1d32	DOID:0060340 - ciliopathy|DOID:0060382 - orofaciodigital syndrome IX|DOID:10584 - retinitis pigmentosa
5793395	crybb3	DOID:0110268 - cataract 22 multiple types
5793916	ehmt1	DOID:0060352 - Kleefstra syndrome 1|DOID:0070075 - obsolete Kleefstra Syndrome
5794200	erlin1	DOID:0110813 - hereditary spastic paraplegia 62
5796192	bms1	DOID:0080661 - nonsyndromic aplasia cutis congenita
5796324	fancf	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111088 - Fanconi anemia complementation group F|DOID:13636 - Fanconi anemia
5797082	abr	DOID:0050902 - medulloblastoma
5797259	c7h12orf57	DOID:0111621 - Temtamy syndrome
5797457	fam83h	DOID:0110055 - amelogenesis imperfecta type 3A
5797750	rhagl	DOID:0050641 - Rh deficiency syndrome|DOID:0111562 - overhydrated hereditary stomatocytosis
5798520	ftsj1	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112034 - non-syndromic X-linked intellectual disability 9
5799123	cc2d1a	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081179 - autosomal recessive intellectual developmental disorder 3
5799149	gba2	DOID:0110798 - hereditary spastic paraplegia 46
5799693	tcf12	DOID:2340 - craniosynostosis
5799939	polr3b	DOID:0060794 - hypomyelinating leukodystrophy 7|DOID:0060797 - hypomyelinating leukodystrophy 8|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
5800886	usp45	DOID:14791 - Leber congenital amaurosis
5801165	rap1a	DOID:0060473 - Kabuki syndrome
5803973	slc25a46	DOID:0080068 - Charcot-Marie-Tooth disease type 6
5804365	serpina1	DOID:13372 - alpha 1-antitrypsin deficiency|DOID:3083 - chronic obstructive pulmonary disease
5805276	mrps16	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111483 - combined oxidative phosphorylation deficiency 2
5806704	cyp2a6.8	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
5808158	hal	DOID:0060168 - histidinemia
5808637	steep1	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112054 - non-syndromic X-linked intellectual disability 107
5809222	wdr73	DOID:0060364 - Galloway-Mowat syndrome 1
5809272	socs3l	DOID:0110100 - atopic dermatitis 4
5810263	tpx2	DOID:10283 - prostate cancer
5811282	otoa	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110480 - autosomal recessive nonsyndromic deafness 22
5811998	tmc6	DOID:13777 - epidermodysplasia verruciformis
5812146	dtnbp1	DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060545 - Hermansky-Pudlak syndrome 7|DOID:5419 - schizophrenia
5812329	scn3a	DOID:0081424 - familial focal epilepsy with variable foci 4
5812528	rsrc1	DOID:0060308 - autosomal recessive intellectual developmental disorder
5812949	chmp1a	DOID:0060277 - pontocerebellar hypoplasia type 8
5813136	arl11l	DOID:1040 - chronic lymphocytic leukemia
5813242	dmd	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060561 - DMD-related dilated cardiomyopathy|DOID:0081164 - obsolete dilated cardiomyopathy 3B|DOID:0110461 - X-linked dilated cardiomyopathy|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy
5813246	dmd	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060561 - DMD-related dilated cardiomyopathy|DOID:0081164 - obsolete dilated cardiomyopathy 3B|DOID:0110461 - X-linked dilated cardiomyopathy|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy
5813350	elp1	DOID:11589 - Riley-Day syndrome
5813434	spidr	DOID:14450 - 46 XX gonadal dysgenesis
5814282	slc25a38	DOID:0060065 - autosomal recessive pyridoxine-refractory sideroblastic anemia 2
5814344	rapgef2	DOID:0111694 - familial adult myoclonic epilepsy 7
5815089	cav3.2	DOID:0060255 - rippling muscle disease 2|DOID:0110302 - autosomal dominant limb-girdle muscular dystrophy type 1C|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110644 - long QT syndrome 1|DOID:0110650 - long QT syndrome 9|DOID:0111191 - distal myopathy Tateyama type|DOID:0111338 - isolated elevated serum creatine phosphokinase levels
5815160	gabbr2	DOID:0080291 - developmental and epileptic encephalopathy 59
5815522	cplx1	DOID:0050460 - Wolf-Hirschhorn syndrome|DOID:0080426 - developmental and epileptic encephalopathy 63
5815682	grhpr.2	DOID:0111671 - primary hyperoxaluria type 2|DOID:2977 - primary hyperoxaluria
5817034	kcnq4	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110558 - autosomal dominant nonsyndromic deafness 2A
5818691	pgap1	DOID:0060308 - autosomal recessive intellectual developmental disorder
5818914	nprl3	DOID:0081423 - familial focal epilepsy with variable foci 3
5820823	wdpcp	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0111591 - congenital heart defects, hamartomas of tongue, and polysyndactyly|DOID:1935 - Bardet-Biedl syndrome
5821021	fam161a	DOID:0110365 - retinitis pigmentosa 28|DOID:10584 - retinitis pigmentosa
5821387	spef2	DOID:0050144 - Kartagener syndrome
5821574	cyp3a5	DOID:10825 - essential hypertension
5822251	satb2	DOID:0060428 - SATB2-associated syndrome|DOID:0110213 - isolated cleft palate
5823860	pip5k1c	DOID:0060653 - lethal congenital contracture syndrome 3
5823873	cacna1s	DOID:14452 - hypokalemic periodic paralysis
5824075	slc6a1	DOID:0060475 - myoclonic-atonic epilepsy
5824085	vkorc1	DOID:0080665 - warfarin resistance|DOID:0112174 - combined deficiency of vitamin K-dependent clotting factors 2
5824648	mtrr	DOID:0050732 - methylmalonic aciduria and homocystinuria type cblE|DOID:0080074 - neural tube defect|DOID:0112255 - homocystinuria-megaloblastic anemia cblE type
5825104	idh3b	DOID:0110409 - retinitis pigmentosa 46|DOID:10584 - retinitis pigmentosa
5825359	stx3	DOID:0060775 - microvillus inclusion disease
5825461	pkp2	DOID:0060480 - left ventricular noncompaction|DOID:0110077 - arrhythmogenic right ventricular dysplasia 9
5825895	tbc1d20.2	DOID:0110719 - Warburg micro syndrome 4
5827245	tecpr2	DOID:0110801 - hereditary spastic paraplegia 49
5828963	dna2	DOID:0070009 - Seckel syndrome 8|DOID:0111519 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
5829005	gp1bb	DOID:2217 - Bernard-Soulier syndrome
5830281	gad1.2	DOID:10970 - spastic quadriplegic cerebral palsy
5830876	med25	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0110179 - Charcot-Marie-Tooth disease type 2B2
5831849	opcml	DOID:2394 - ovarian cancer
5831951	rpgrip1l	DOID:0050778 - Meckel syndrome|DOID:0070119 - Meckel syndrome 5|DOID:0110999 - Joubert syndrome 4|DOID:0111002 - Joubert syndrome 7|DOID:0111589 - COACH syndrome
5832580	naga	DOID:0112318 - Schindler disease type 1|DOID:0112319 - Kanzaki disease
5832672	rps15	DOID:1040 - chronic lymphocytic leukemia
5833231	uvssa	DOID:0060240 - UV-sensitive syndrome
5834443	tuba1cl.3	DOID:0050453 - lissencephaly|DOID:0112232 - lissencephaly 3
5836256	f13bl	DOID:2211 - factor XIII deficiency
5838515	ank1	DOID:0110916 - hereditary spherocytosis type 1|DOID:12971 - hereditary spherocytosis
5838710	mlh1	DOID:0050465 - Muir-Torre syndrome|DOID:0112182 - mismatch repair cancer syndrome|DOID:3883 - Lynch syndrome
5839239	rad54b	DOID:0060060 - non-Hodgkin lymphoma
5839499	ahdc1	DOID:0070055 - Xia-Gibbs Syndrome
5839558	marveld2	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110506 - autosomal recessive nonsyndromic deafness 49
5840003	dnase1	DOID:9074 - systemic lupus erythematosus
5841560	tmem199	DOID:0070268 - congenital disorder of glycosylation type IIp
5842213	gins1	DOID:0111993 - immunodeficiency 55
5842911	dnajc19	DOID:0110000 - 3-methylglutaconic aciduria type 5
5842995	arl3l2	DOID:0050777 - Joubert syndrome|DOID:10584 - retinitis pigmentosa
5843080	setd5	DOID:0070053 - autosomal dominant intellectual developmental disorder 23|DOID:11725 - Cornelia de Lange syndrome
5843474	tent5a	DOID:0111848 - osteogenesis imperfecta type 18
5843536	scyl1	DOID:0111155 - autosomal recessive spinocerebellar ataxia 21
5843725	tmem106b	DOID:0070405 - hypomyelinating leukodystrophy 16
5843767	prkcsh	DOID:0050770 - polycystic liver disease
5844203	akr1c2	DOID:0111773 - 46,XY sex reversal 8|DOID:14448 - 46,XY sex reversal
5844483	trappc9	DOID:0050889 - non-syndromic intellectual disability|DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081098 - autosomal recessive intellectual developmental disorder 13
5845784	sprtn	DOID:0111264 - Ruijs-Aalfs syndrome
5845945	acox2	DOID:0111067 - congenital bile acid synthesis defect 6
5847664	liph	DOID:0110704 - hypotrichosis 7
5848648	gpr143	DOID:0050633 - ocular albinism 1|DOID:0111795 - congenital nystagmus 6|DOID:9649 - congenital nystagmus
5848873	rs1	DOID:0060763 - X-linked juvenile retinoschisis 1
5848952	aprt	DOID:0060350 - adenine phosphoribosyltransferase deficiency
5849691	tmem38b	DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110343 - osteogenesis imperfecta type 14
5850296	ufsp2	DOID:0111367 - Beukes hip dysplasia
5850463	klhl41	DOID:0110929 - nemaline myopathy 9
5851600	hmmr	DOID:1612 - breast cancer
5852261	cradd	DOID:0060308 - autosomal recessive intellectual developmental disorder
5852281	polr1d.2	DOID:2908 - Treacher Collins syndrome
5852767	ndufaf4	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
5854282	phgdh	DOID:0050722 - PHGDH deficiency|DOID:0080076 - Neu-Laxova syndrome 1
5855161	sdhd	DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050771 - pheochromocytoma|DOID:0050773 - paraganglioma|DOID:0050925 - small intestine carcinoid neuroendocrine tumor|DOID:0060537 - mitochondrial complex II deficiency|DOID:0080533 - Carney-Stratakis syndrome|DOID:6457 - Cowden syndrome
5857190	gopc	DOID:0070167 - spermatogenic failure 6|DOID:14227 - azoospermia
5857401	gtf2ird1	DOID:1928 - Williams-Beuren syndrome
5858610	nlrc4	DOID:0090061 - familial cold autoinflammatory syndrome|DOID:0090065 - familial cold autoinflammatory syndrome 4
5858667	asxl3	DOID:0080893 - Bainbridge-Ropers syndrome
5858685	slc22a4	DOID:0110892 - inflammatory bowel disease 1|DOID:7148 - rheumatoid arthritis
5859300	tmem98	DOID:0080634 - nanophthalmos|DOID:10629 - microphthalmia
5862161	mars2	DOID:0050942 - spastic ataxia 3|DOID:0111468 - combined oxidative phosphorylation deficiency 25
5862184	inf2	DOID:0110205 - Charcot-Marie-Tooth disease dominant intermediate E|DOID:0111130 - focal segmental glomerulosclerosis 5
5863425	hdac8	DOID:0060814 - Wilson-Turner syndrome|DOID:11725 - Cornelia de Lange syndrome
5863746	bbip1	DOID:1935 - Bardet-Biedl syndrome
5864291	col3a1	DOID:14756 - vascular type Ehlers-Danlos syndrome|DOID:14757 - Ehlers-Danlos syndrome hypermobility type
5865480	comt.2	DOID:5419 - schizophrenia|DOID:594 - panic disorder
5866499	crybb2	DOID:0110235 - cataract 2 multiple types|DOID:0110269 - cataract 3 multiple types
5866532	prodh	DOID:0070080 - schizophrenia 4|DOID:0080542 - hyperprolinemia type 1
5867564	pigq	DOID:0050709 - early infantile epileptic encephalopathy
5867928	palb2	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111094 - Fanconi anemia complementation group N|DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer
5867970	kcnd3	DOID:0050451 - Brugada syndrome|DOID:0050970 - spinocerebellar ataxia type 19/22|DOID:0110226 - Brugada syndrome 9
5868351	spg11	DOID:0060197 - amyotrophic lateral sclerosis type 5|DOID:0110176 - Charcot-Marie-Tooth disease axonal type 2X|DOID:0110764 - hereditary spastic paraplegia 11
5868905	mt-co1	DOID:0111751 - mitochondrial nonsyndromic sensorineural deafness|DOID:3687 - MELAS syndrome|DOID:3762 - cytochrome-c oxidase deficiency disease
5869910	gosr2	DOID:0111449 - progressive myoclonus epilepsy 6|DOID:891 - progressive myoclonus epilepsy
5870366	vamp1	DOID:0050772 - spastic ataxia 1
5870377	slc6a19	DOID:0112265 - iminoglycinuria|DOID:1060 - Hartnup disease
5870536	mcm6.2	DOID:10604 - lactose intolerance
5871493	traf3ip1	DOID:0050576 - Senior-Loken syndrome
5871551	cyp27a1.5 (prov)	DOID:4810 - cerebrotendinous xanthomatosis
5871696	c1h9orf72	DOID:0060213 - frontotemporal dementia and/or amyotrophic lateral sclerosis 1|DOID:332 - amyotrophic lateral sclerosis
5871723	b4galt1	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070256 - congenital disorder of glycosylation type IId
5872142	cep120	DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0050777 - Joubert syndrome|DOID:0080277 - Joubert syndrome 31|DOID:0110093 - short-rib thoracic dysplasia 13 with or without polydactyly
5872333	nhs	DOID:0060599 - Nance-Horan syndrome|DOID:0110272 - cataract 40
5872779	apob	DOID:0111062 - familial hypobetalipoproteinemia 1
5873170	cst3	DOID:0070027 - CST3-related cerebral amyloid angiopathy|DOID:0110023 - age related macular degeneration 11
5873780	man1b1	DOID:0050889 - non-syndromic intellectual disability|DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081097 - Rafiq syndrome
5873934	hdac6	DOID:0112106 - chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
5874063	uba1	DOID:0111827 - X-linked spinal muscular atrophy 2
5874684	umps	DOID:0050833 - orotic aciduria
5875738	capn3	DOID:0110275 - autosomal recessive limb-girdle muscular dystrophy type 2A
5876528	ctsf	DOID:0110727 - neuronal ceroid lipofuscinosis 13
5876582	acadvl	DOID:0080155 - very long chain acyl-CoA dehydrogenase deficiency
5876966	ctsk	DOID:0080038 - pycnodysostosis
5877282	snrpb	DOID:0111248 - cerebrocostomandibular syndrome
5878273	tgm6	DOID:0050982 - spinocerebellar ataxia type 35
5878288	cad	DOID:0080419 - developmental and epileptic encephalopathy 50
5878699	twist2	DOID:0060549 - Barber-Say syndrome|DOID:0060550 - ablepharon macrostomia syndrome
5879292	dlx3	DOID:0110053 - amelogenesis imperfecta type 4|DOID:0111565 - trichodontoosseous syndrome
5879818	ahi1	DOID:0050777 - Joubert syndrome|DOID:0110998 - Joubert syndrome 3|DOID:10584 - retinitis pigmentosa
5879909	nop56	DOID:0050983 - spinocerebellar ataxia type 36
5880491	sting1	DOID:0111457 - STING-associated vasculopathy with onset in infancy
5882296	proc.2	DOID:0111904 - autosomal recessive thrombophilia due to protein C deficiency|DOID:0111909 - autosomal dominant thrombophilia due to protein C deficiency|DOID:3756 - protein C deficiency
5883771	hells	DOID:0090007 - immunodeficiency-centromeric instability-facial anomalies syndrome|DOID:0090011 - immunodeficiency-centromeric instability-facial anomalies syndrome 4
5883976	ccdc88a	DOID:0080539 - PEHO syndrome
5884136	tmtc3	DOID:0050454 - periventricular nodular heterotopia|DOID:0112233 - lissencephaly 8
5884185	ddr2l	DOID:0112196 - spondylometaepiphyseal dysplasia, short limb-hand type
5884410	cep78	DOID:0110828 - Usher syndrome type 3
5885004	acad9	DOID:0112072 - nuclear type mitochondrial complex I deficiency 20
5886291	tubb3	DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0081017 - congenital fibrosis of the extraocular muscles 3A|DOID:0090137 - complex cortical dysplasia with other brain malformations 1
5886875	tctn1	DOID:0050777 - Joubert syndrome|DOID:0110982 - Joubert syndrome 13
5887192	lage3	DOID:0060364 - Galloway-Mowat syndrome 1|DOID:0080244 - Galloway-Mowat syndrome 2
5887238	kcne3	DOID:0050451 - Brugada syndrome|DOID:0110223 - Brugada syndrome 6|DOID:14452 - hypokalemic periodic paralysis
5887345	eral1	DOID:0050857 - Perrault syndrome|DOID:0080256 - Perrault syndrome 6
5887532	dnaaf2	DOID:0050144 - Kartagener syndrome|DOID:0110612 - primary ciliary dyskinesia 10
5887771	ndufb10	DOID:0060536 - mitochondrial complex I deficiency
5888636	ctnnd2	DOID:12580 - Cri-Du-Chat syndrome
5888836	coq4	DOID:0070244 - primary coenzyme Q10 deficiency 7
5889202	ttll5	DOID:0050572 - cone-rod dystrophy|DOID:0111025 - cone-rod dystrophy 19
5889577	cyp4f22	DOID:0060714 - autosomal recessive congenital ichthyosis 5
5890819	edc3	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081213 - autosomal recessive intellectual developmental disorder 50
5892148	tpsab1	DOID:0080714 - hereditary alpha tryptasemia syndrome
5892299	cyp2a6.2	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
5892316	kiz	DOID:0110410 - retinitis pigmentosa 69|DOID:10584 - retinitis pigmentosa
5893103	tdrd9	DOID:0111913 - spermatogenic failure 30
5893466	tbc1d23	DOID:0112324 - pontocerebellar hypoplasia type 11
5894592	septin12	DOID:0070178 - spermatogenic failure 10|DOID:14227 - azoospermia
5894853	efl1	DOID:0080023 - obsolete Shwachman-Diamond type metaphyseal dysplasia
5894879	hfm1	DOID:0080866 - primary ovarian insufficiency 9|DOID:5426 - primary ovarian insufficiency
5894897	c7	DOID:0060300 - complement component 7 deficiency
5895372	ccdc78	DOID:14717 - centronuclear myopathy
5895461	ercc1	DOID:0080914 - cerebrooculofacioskeletal syndrome 4
5895777	cdkal1	DOID:9352 - type 2 diabetes mellitus
5895887	akr1c4	DOID:0111773 - 46,XY sex reversal 8|DOID:14448 - 46,XY sex reversal
5896601	foxred1	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease
5896976	cyp7b1	DOID:0110810 - hereditary spastic paraplegia 5A|DOID:0111070 - congenital bile acid synthesis defect 3
5898520	sil1	DOID:0080195 - Marinesco-Sjogren syndrome
5899455	setbp1	DOID:0070059 - autosomal dominant intellectual developmental disorder 29|DOID:0070509 - Schinzel Giedion syndrome
5901112	rras2	DOID:3490 - Noonan syndrome
5901653	wnt7a	DOID:0090067 - Fuhrmann syndrome|DOID:0112181 - Schinzel type phocomelia
5902234	dnaaf5	DOID:0050144 - Kartagener syndrome|DOID:0110604 - primary ciliary dyskinesia 18
5902542	bltp1	DOID:0111555 - Alkuraya-Kucinskas syndrome
5903638	pacs2	DOID:0080446 - developmental and epileptic encephalopathy 66
5903817	stac3	DOID:0060346 - Native American myopathy
5903933	cyp2a6	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
5903983	cyp2a6.3	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
5906944	ctsd	DOID:0110725 - neuronal ceroid lipofuscinosis 10
5907113	tsen2	DOID:0060268 - pontocerebellar hypoplasia type 2B
5907770	gdi1	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0111814 - methylmalonic acidemia and homocysteinemia cblX type|DOID:0112058 - non-syndromic X-linked intellectual disability 41
5909077	alox12b	DOID:0060710 - autosomal recessive congenital ichthyosis 2|DOID:1699 - congenital ichthyosiform erythroderma
5909148	tead1	DOID:0111228 - Sveinsson chorioretinal atrophy
5909176	cc2d2a	DOID:0050778 - Meckel syndrome|DOID:0070120 - Meckel syndrome 6|DOID:0111004 - Joubert syndrome 9|DOID:0111589 - COACH syndrome
5909248	ift43	DOID:0050577 - cranioectodermal dysplasia|DOID:0080033 - craniometaphyseal dysplasia|DOID:0080292 - retinitis pigmentosa 81|DOID:0080293 - short-rib thoracic dysplasia 18 with polydactyly
5909319	arhgef2	DOID:0080312 - neurodevelopmental disorder with midbrain and hindbrain malformations
5910007	chuk	DOID:0060647 - fetal encasement syndrome
5910074	gal.2	DOID:0060754 - familial temporal lobe epilepsy 8
5910088	hax1	DOID:0112133 - severe congenital neutropenia 3
5910167	nlrp3	DOID:0050854 - Muckle-Wells syndrome|DOID:0080270 - autosomal dominant nonsyndromic deafness 34|DOID:0090029 - CINCA Syndrome|DOID:0090061 - familial cold autoinflammatory syndrome|DOID:0090062 - familial cold autoinflammatory syndrome 1
5910253	pex11b	DOID:0081274 - peroxisome biogenesis disorder 14B|DOID:905 - Zellweger syndrome
5910330	irf6.2	DOID:0050591 - tooth agenesis|DOID:0060055 - popliteal pterygium syndrome|DOID:0060239 - Van der Woude syndrome
5910468	cfap298	DOID:0050144 - Kartagener syndrome|DOID:0110627 - primary ciliary dyskinesia 26
5911792	mogs	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070254 - congenital disorder of glycosylation type IIb
5913742	stat5b	DOID:0080836 - growth hormone insensitivity syndrome with immune dysregulation 1
5913943	myo1e.2	DOID:0111131 - focal segmental glomerulosclerosis 6
5914007	mbd5	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070031 - autosomal dominant intellectual developmental disorder 1
5914212	washc4	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081207 - autosomal recessive intellectual developmental disorder 43
5914423	sema4a	DOID:0050572 - cone-rod dystrophy|DOID:0110357 - retinitis pigmentosa 35|DOID:0111017 - cone-rod dystrophy 10|DOID:10584 - retinitis pigmentosa
5914495	pomp	DOID:0060914 - proteosome-associated autoinflammatory syndrome 2
5914699	l1cam	DOID:0060246 - MASA syndrome|DOID:10908 - hydrocephalus
5915506	dnajc13	DOID:0060892 - late onset Parkinson's disease
5915560	diablo	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110585 - autosomal dominant nonsyndromic deafness 64
5916204	vti1a	DOID:0080135 - multiple mitochondrial dysfunctions syndrome 3
5917456	uqcc2	DOID:0080116 - mitochondrial complex III deficiency nuclear type 7|DOID:0111139 - mitochondrial complex III deficiency
5918040	pklr	DOID:0111077 - pyruvate kinase deficiency of red cells
5918221	tfe3	DOID:4450 - renal cell carcinoma|DOID:4465 - papillary renal cell carcinoma
5918262	kcnj8	DOID:0060569 - hypertrichotic osteochondrodysplasia Cantu type
5918289	hmbs	DOID:3890 - acute intermittent porphyria
5918475	gcgr	DOID:9352 - type 2 diabetes mellitus
5918488	cat	DOID:2582 - acatalasia
5918717	usf1	DOID:13809 - familial combined hyperlipidemia
5918937	mllt11	DOID:0050458 - juvenile myelomonocytic leukemia
5918987	sqstm1	DOID:0080718 - GNE myopathy|DOID:0081363 - distal myopathy with rimmed vacuoles|DOID:0081364 - neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset|DOID:0081365 - Paget's disease of bone 2|DOID:0081366 - Paget's disease of bone 3|DOID:0110068 - frontotemporal dementia and/or amyotrophic lateral sclerosis 3|DOID:332 - amyotrophic lateral sclerosis|DOID:5408 - Paget's disease of bone
5919505	kcnj5	DOID:0050434 - Andersen-Tawil syndrome|DOID:0110644 - long QT syndrome 1|DOID:0110654 - long QT syndrome 13|DOID:446 - primary hyperaldosteronism
5921232	epg5	DOID:0060356 - Vici syndrome
5921461	kcnq1	DOID:0050650 - familial atrial fibrillation|DOID:0050793 - short QT syndrome|DOID:0110644 - long QT syndrome 1|DOID:2842 - Jervell-Lange Nielsen syndrome|DOID:5572 - Beckwith-Wiedemann syndrome
5922244	snrpe	DOID:0110708 - hypotrichosis 11
5922805	ccnq	DOID:0111931 - syndactyly-telecanthus-anogenital and renal malformations syndrome
5923006	add3	DOID:0081361 - spastic quadriplegic cerebral palsy 3|DOID:10970 - spastic quadriplegic cerebral palsy
5925392	aldob	DOID:9869 - hereditary fructose intolerance syndrome
5929083	ada.2	DOID:0060010 - Omenn syndrome|DOID:5810 - adenosine deaminase deficiency
5929176	skic3	DOID:0111415 - trichohepatoenteric syndrome 1
5929457	KIAA0586	DOID:0050777 - Joubert syndrome|DOID:0110096 - short-rib thoracic dysplasia 14 with polydactyly|DOID:0110992 - Joubert syndrome 23
5930956	lct	DOID:0111646 - congenital lactase deficiency|DOID:10604 - lactose intolerance
5931109	hps5	DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060543 - Hermansky-Pudlak syndrome 5
5931147	trappc11	DOID:0050602 - triple-A syndrome|DOID:0110287 - autosomal recessive limb-girdle muscular dystrophy type 2S
5932066	chrna1.2	DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A
5932309	kif4a	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112040 - non-syndromic X-linked intellectual disability 100
5932623	tsen34	DOID:0060269 - pontocerebellar hypoplasia type 2C
5933521	dctn1	DOID:0060193 - amyotrophic lateral sclerosis type 1|DOID:0060486 - Perry syndrome|DOID:0111202 - autosomal dominant distal hereditary motor neuronopathy 14
5933879	primpol	DOID:11830 - myopia
5934130	alg11	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080567 - congenital disorder of glycosylation Ip
5934500	kifbp	DOID:0060481 - Goldberg-Shprintzen syndrome
5935910	trip11	DOID:0080054 - achondrogenesis type IA
5935961	lamb2	DOID:0060852 - Pierson syndrome
5936528	rgs9bpl	DOID:0050335 - bradyopsia|DOID:0070363 - bradyopsia 1
5937735	specc1l	DOID:0050780 - obsolete Opitz-GBBB syndrome|DOID:0080698 - Teebi hypertelorism syndrome 1|DOID:0111706 - oblique facial clefting 1
5938587	erbb2	DOID:0080764 - hereditary diffuse gastric cancer|DOID:10534 - stomach cancer|DOID:1324 - lung cancer|DOID:3070 - high grade glioma
5938650	mhc1-uaa	DOID:0080603 - ankylosing spondylitis 1
5939805	tonsl	DOID:5684 - spondyloepimetaphyseal dysplasia, Sponastrime type
5939930	znf674	DOID:0112032 - non-syndromic X-linked intellectual disability 92
5940570	cryaa	DOID:0110266 - cataract 9 multiple types
5940578	fuca1	DOID:14500 - fucosidosis
5941074	rsph9	DOID:0050144 - Kartagener syndrome|DOID:0110601 - primary ciliary dyskinesia 12
5941220	cfp	DOID:0111768 - X-linked properdin deficiency
5941572	hars2	DOID:0050857 - Perrault syndrome
5941646	slc29a3	DOID:0111278 - histiocytosis-lymphadenopathy plus syndrome
5942578	rfx5	DOID:5812 - MHC class II deficiency
5943020	stx16	DOID:0080222 - pseudohypoparathyroidism type IB|DOID:4184 - pseudohypoparathyroidism
5943044	tmem216	DOID:0050778 - Meckel syndrome|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0070116 - Meckel syndrome 2|DOID:0110988 - Joubert syndrome 2
5943312	slc2a4	DOID:9352 - type 2 diabetes mellitus
5943783	fam20a	DOID:0110066 - amelogenesis imperfecta type 1G
5943820	a2ml1	DOID:3490 - Noonan syndrome
5944560	slc25a20	DOID:0111585 - carnitine-acylcarnitine translocase deficiency
5945116	pigo	DOID:0070434 - hyperphosphatasia with impaired intellectual development syndrome 2
5945263	cox6b1	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
5945699	rsph1	DOID:0050144 - Kartagener syndrome|DOID:0110628 - primary ciliary dyskinesia 24
5945764	obsl1	DOID:0060241 - 3-M syndrome
5947962	wrap53	DOID:0070019 - autosomal recessive dyskeratosis congenita 3|DOID:2729 - dyskeratosis congenita
5948802	jagn1	DOID:0112134 - severe congenital neutropenia 6
5949004	gabrg2	DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0060171 - obsolete Dravet syndrome|DOID:0080422 - Dravet syndrome|DOID:0111298 - familial febrile seizures 8|DOID:0111302 - generalized epilepsy with febrile seizures plus 1|DOID:2481 - infantile epileptic encephalopathy|DOID:3329 - benign epilepsy with centrotemporal spikes
5949018	shroom4	DOID:0112126 - Stocco Dos Santos type X-linked intellectual disability
5950100	col4a2	DOID:0060263 - porencephaly|DOID:0112314 - brain small vessel disease 2
5950161	itga2b.2	DOID:0060691 - platelet-type bleeding disorder 16|DOID:2219 - Glanzmann's thrombasthenia
5952508	mars1	DOID:0110173 - Charcot-Marie-Tooth disease axonal type 2U
5952676	ca4.2	DOID:0110404 - retinitis pigmentosa 17|DOID:10584 - retinitis pigmentosa
5952826	ano5	DOID:0070201 - Miyoshi muscular dystrophy 3|DOID:0110284 - autosomal recessive limb-girdle muscular dystrophy type 2L|DOID:0111533 - gnathodiaphyseal dysplasia
5953133	rbbp8	DOID:0050569 - Seckel syndrome|DOID:0070013 - Seckel syndrome 2
5953275	cfi	DOID:0050419 - complement factor I deficiency|DOID:0060745 - Doyne honeycomb retinal dystrophy|DOID:0110025 - age related macular degeneration 13
5953675	rps27	DOID:0111880 - Diamond-Blackfan anemia 17
5953696	scaper	DOID:10584 - retinitis pigmentosa
5953720	chkb	DOID:0110632 - megaconial type congenital muscular dystrophy
5953769	akap9	DOID:0110644 - long QT syndrome 1|DOID:0110652 - long QT syndrome 11
5953795	pnkp	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080457 - microcephaly, seizures, and developmental delay|DOID:0081383 - ataxia-oculomotor apraxia type 4|DOID:2481 - infantile epileptic encephalopathy
5954540	myh8	DOID:0050471 - Carney complex|DOID:0050646 - distal arthrogryposis|DOID:0111603 - distal arthrogryposis type 7
5954566	col5a1	DOID:14720 - Ehlers-Danlos syndrome classic type 1
5954969	prkaca	DOID:0060280 - primary pigmented nodular adrenocortical disease
5955288	esco2	DOID:0050536 - obsolete SC phocomelia syndrome|DOID:5325 - Roberts syndrome
5955924	fmn2	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081211 - autosomal recessive intellectual developmental disorder 47
5955935	rgs9	DOID:0050335 - bradyopsia|DOID:0070363 - bradyopsia 1
5956641	syne1	DOID:0070249 - autosomal dominant Emery-Dreifuss muscular dystrophy 4|DOID:0111618 - autosomal recessive spinocerebellar ataxia 8
5957240	clcn5	DOID:0050445 - X-linked dominant hypophosphatemic rickets|DOID:0050699 - Dent disease|DOID:0111798 - X-linked nephrolithiasis type I|DOID:0111815 - low molecular weight proteinuria with hypercalciuric nephrocalcinosis
5957306	gnptab	DOID:0080070 - mucolipidosis II alpha/beta|DOID:0080071 - mucolipidosis III alpha/beta
5957472	tbc1d24.2	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080449 - developmental and epileptic encephalopathy 16|DOID:0110532 - autosomal recessive nonsyndromic deafness 86|DOID:0110586 - autosomal dominant nonsyndromic deafness 65|DOID:0111627 - DOORS syndrome
5958093	dis3l2	DOID:0060476 - Perlman syndrome
5958699	mkrn3	DOID:0112309 - central precocious puberty 2|DOID:11983 - Prader-Willi syndrome
5959315	phactr1	DOID:0050562 - West syndrome
5959462	arsa	DOID:10581 - metachromatic leukodystrophy
5960303	odad4	DOID:0050144 - Kartagener syndrome|DOID:0110620 - primary ciliary dyskinesia 35
5960334	fermt1	DOID:0060472 - Kindler syndrome
5960545	cyp2a6.6	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
5961451	c6	DOID:0060299 - complement component 6 deficiency
5961868	ndufa13	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:8161 - oncocytic carcinoma of the thyroid
5961969	slc5a2	DOID:9432 - renal glycosuria
5961993	krt12	DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1
5962007	chchd10	DOID:0060214 - frontotemporal dementia and/or amyotrophic lateral sclerosis 2|DOID:0081356 - spinal muscular atrophy, Jokela type|DOID:0081357 - isolated mitochondrial myopathy|DOID:332 - amyotrophic lateral sclerosis
5962105	stx1b	DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0111301 - generalized epilepsy with febrile seizures plus 9
5962522	bbs12	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110134 - Bardet-Biedl syndrome 12|DOID:1935 - Bardet-Biedl syndrome
5962553	fancg	DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111086 - Fanconi anemia complementation group G|DOID:13636 - Fanconi anemia
5963240	cd40	DOID:0060023 - immunodeficiency with hyper IgM type 3
5965355	greb1l	DOID:0080200 - bilateral renal aplasia
5965442	ripor2	DOID:0050565 - autosomal recessive nonsyndromic deafness
5965650	tex14	DOID:0070181 - spermatogenic failure 23
5966550	thra	DOID:0070128 - congenital nongoitrous hypothyroidism 6
5966956	acsl4	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112050 - non-syndromic X-linked intellectual disability 63
5967063	drc1	DOID:0050144 - Kartagener syndrome|DOID:0110596 - primary ciliary dyskinesia 21
5967538	col25a1.2	DOID:0060261 - congenital ptosis|DOID:0081020 - congenital fibrosis of the extraocular muscles 5|DOID:12557 - Duane retraction syndrome
5969094	oat	DOID:1415 - gyrate atrophy
5969670	anks6	DOID:0111112 - nephronophthisis 1|DOID:0111124 - nephronophthisis 16
5969736	cisd2	DOID:0110630 - Wolfram syndrome 2|DOID:10632 - Wolfram syndrome
5969936	phka1	DOID:0111040 - glycogen storage disease IXd
5992932	nsd3	DOID:9119 - acute myeloid leukemia
5993002	kcnt1	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060686 - autosomal dominant nocturnal frontal lobe epilepsy 5|DOID:0080439 - developmental and epileptic encephalopathy 14
5994597	chrna4	DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060682 - autosomal dominant nocturnal frontal lobe epilepsy 1
5995151	smad10	DOID:0050787 - juvenile polyposis syndrome|DOID:0111543 - juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome|DOID:1270 - hereditary hemorrhagic telangiectasia|DOID:4905 - pancreatic carcinoma
5995329	diaph1	DOID:0110541 - autosomal dominant nonsyndromic deafness 1
5995516	gatad2b	DOID:0070048 - GAND syndrome
5996132	irf7	DOID:0111969 - immunodeficiency 39
5998209	plekhg4	DOID:0050957 - spinocerebellar ataxia type 4|DOID:0050980 - spinocerebellar ataxia type 31
5998665	stk36	DOID:0050144 - Kartagener syndrome
5999892	pde11a	DOID:0060280 - primary pigmented nodular adrenocortical disease
6000360	dmbt1	DOID:0050902 - medulloblastoma|DOID:3070 - high grade glioma
6030742	gabrb3	DOID:0050561 - Lennox-Gastaut syndrome|DOID:1825 - childhood absence epilepsy|DOID:1826 - epilepsy
6030767	naglu	DOID:0110178 - Charcot-Marie-Tooth disease axonal type 2V|DOID:0111394 - mucopolysaccharidosis type IIIB|DOID:12801 - mucopolysaccharidosis III
6031007	tmem132e	DOID:0050565 - autosomal recessive nonsyndromic deafness
6031017	inpp5el	DOID:0110980 - Joubert syndrome 1
6031033	pde6h	DOID:0050795 - cone dystrophy|DOID:0081025 - retinal cone dystrophy 3A|DOID:13911 - achromatopsia
6031109	tet2	DOID:0050908 - myelodysplastic syndrome|DOID:4797 - SM-AHNMD|DOID:4971 - myelofibrosis|DOID:8997 - polycythemia vera
6031140	prrt2	DOID:0060169 - benign familial infantile epilepsy|DOID:0081115 - benign familial infantile seizures 2|DOID:0090045 - glucose transporter type 1 deficiency syndrome 2|DOID:0090049 - paroxysmal nonkinesigenic dyskinesia 1|DOID:0090053 - episodic kinesigenic dyskinesia 1
6031645	steap3	DOID:0050642 - hypochromic microcytic anemia
6031690	cacna1b	DOID:0090051 - dystonia 23
6031728	ndufaf2	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease
6031745	ttn	DOID:0081341 - congenital myopathy 5|DOID:0110283 - autosomal recessive limb-girdle muscular dystrophy type 2J|DOID:0110315 - hypertrophic cardiomyopathy 9|DOID:0110430 - dilated cardiomyopathy 1G|DOID:0111078 - tibial muscular dystrophy|DOID:0111188 - myofibrillar myopathy 9
6032475	col5a2	DOID:14720 - Ehlers-Danlos syndrome classic type 1
6032644	myo3a	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110489 - autosomal recessive nonsyndromic deafness 30
6032684	rp1	DOID:0110390 - retinitis pigmentosa 1|DOID:10584 - retinitis pigmentosa|DOID:1172 - hyperlipoproteinemia type IV
6032790	slc52a3	DOID:0050694 - Brown-Vialetto-Van Laere syndrome|DOID:0080632 - Fazio-Londe disease|DOID:0080785 - Brown-Vialetto-Van Laere syndrome 1
6033183	tmem240	DOID:0050972 - spinocerebellar ataxia type 21
6033337	gabra1	DOID:4890 - juvenile myoclonic epilepsy
6033403	mymk	DOID:0080194 - Carey-Fineman-Ziter syndrome
6033421	aloxe3	DOID:0060710 - autosomal recessive congenital ichthyosis 2|DOID:0060711 - autosomal recessive congenital ichthyosis 3|DOID:1699 - congenital ichthyosiform erythroderma
6033577	pde3a	DOID:0111247 - hypertension and brachydactyly syndrome
6033728	plekhm1	DOID:0110945 - autosomal recessive osteopetrosis 6
6033759	colq	DOID:0110667 - congenital myasthenic syndrome 5
6034035	spg7	DOID:0110816 - hereditary spastic paraplegia 7|DOID:230 - lateral sclerosis
6034567	col4a6	DOID:0050566 - X-linked nonsyndromic deafness|DOID:0111740 - X-linked deafness 6
6034695	atp1a2	DOID:0050635 - alternating hemiplegia of childhood|DOID:0060178 - familial hemiplegic migraine|DOID:14452 - hypokalemic periodic paralysis
6034869	ap5z1	DOID:0110800 - hereditary spastic paraplegia 48
6034942	mettl23	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081208 - autosomal recessive intellectual developmental disorder 44
6034961	kif7	DOID:0050779 - hydrolethalus syndrome|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0111356 - hydrolethalus syndrome 2|DOID:9250 - acrocallosal syndrome
6035279	cerkl	DOID:0110368 - retinitis pigmentosa 26|DOID:10584 - retinitis pigmentosa
6035308	p2rx1	DOID:0060692 - platelet-type bleeding disorder 8
6035340	rmnd1	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111481 - combined oxidative phosphorylation deficiency 11
6035410	kctd17	DOID:0090033 - myoclonic dystonia|DOID:0090036 - myoclonic dystonia 26
6035450	traf3ip2	DOID:0111287 - psoriasis 13|DOID:2058 - chronic mucocutaneous candidiasis
6035541	cngb3	DOID:0050795 - cone dystrophy|DOID:0050817 - Stargardt disease|DOID:0110008 - achromatopsia 3|DOID:13911 - achromatopsia
6035626	ash1l	DOID:0080231 - autosomal dominant intellectual developmental disorder 52
6035709	cep164	DOID:0050576 - Senior-Loken syndrome|DOID:0111123 - nephronophthisis 15
6035761	iqsec2	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112038 - non-syndromic X-linked intellectual disability 1
6035797	glra1	DOID:0060695 - hyperekplexia|DOID:0060696 - hyperekplexia 1
6035929	rtel1	DOID:0070020 - autosomal dominant dyskeratosis congenita 4|DOID:0070022 - autosomal recessive dyskeratosis congenita 5|DOID:2729 - dyskeratosis congenita
6036031	atp8a2	DOID:0050997 - cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
6036049	rbfox1	DOID:1682 - congenital heart disease|DOID:9955 - hypoplastic left heart syndrome
6036055	srcap	DOID:0111358 - Floating-Harbor syndrome
6036139	alg9	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080564 - congenital disorder of glycosylation Il
6037400	kcna5	DOID:0050650 - familial atrial fibrillation
6037406	scn5a	DOID:0050451 - Brugada syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0110218 - Brugada syndrome 1|DOID:0110433 - dilated cardiomyopathy 1E|DOID:0110644 - long QT syndrome 1|DOID:0110646 - long QT syndrome 3|DOID:0111073 - progressive familial heart block|DOID:0111074 - progressive familial heart block type IA|DOID:13884 - sick sinus syndrome|DOID:9007 - sudden infant death syndrome
6037471	dok7	DOID:0110668 - congenital myasthenic syndrome 10|DOID:0111377 - fetal akinesia deformation sequence syndrome 1
6037488	s1pr2	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110519 - autosomal recessive nonsyndromic deafness 68
6037553	trpm3	DOID:0060307 - autosomal dominant intellectual developmental disorder
6037688	gpc6	DOID:0060288 - omodysplasia|DOID:0080844 - omodysplasia 1
6038557	msrb3	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110523 - autosomal recessive nonsyndromic deafness 74
6038612	sardh	DOID:0112307 - sarcosinemia
6038809	nbeal2	DOID:0111044 - gray platelet syndrome
6038834	adamts13	DOID:10772 - thrombotic thrombocytopenic purpura
6039486	plekhg5	DOID:0110198 - Charcot-Marie-Tooth disease recessive intermediate C|DOID:0111213 - autosomal recessive distal hereditary motor neuronopathy 4
6040102	pclo	DOID:0060272 - pontocerebellar hypoplasia type 3
6040278	cdk13	DOID:0112247 - congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
6041029	adh1c	DOID:0050741 - alcohol dependence|DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease
6041251	cox20	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
6041330	frmd7	DOID:0111790 - congenital nystagmus 1
6041437	pjvk	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110511 - autosomal recessive nonsyndromic deafness 59
6041520	znf81	DOID:0050776 - non-syndromic X-linked intellectual disability
6041737	serac1	DOID:0110001 - 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
6041757	szt2	DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080413 - developmental and epileptic encephalopathy 18
6041761	vwa3b	DOID:0111614 - autosomal recessive spinocerebellar ataxia 22
6041815	rfwd3	DOID:13636 - Fanconi anemia
6041836	adgrg1	DOID:0080922 - bilateral frontoparietal polymicrogyria|DOID:0080924 - bilateral perisylvian polymicrogyria
6041868	col4a5	DOID:0110034 - X-linked Alport syndrome
6041910	nexmif	DOID:0050776 - non-syndromic X-linked intellectual disability
6041942	abca12	DOID:0060712 - autosomal recessive congenital ichthyosis 4A|DOID:0060713 - autosomal recessive congenital ichthyosis 4B|DOID:1699 - congenital ichthyosiform erythroderma
6041968	arfgef2	DOID:0050454 - periventricular nodular heterotopia
6042120	cacna1h	DOID:1825 - childhood absence epilepsy
6042489	grxcr1	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110483 - autosomal recessive nonsyndromic deafness 25
6043632	camta1	DOID:0050998 - nonprogressive cerebellar ataxia with mental retardation
6043717	p2rx2	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110567 - autosomal dominant nonsyndromic deafness 41
6043822	vps13c	DOID:0060894 - early-onset Parkinson's disease|DOID:0060896 - Parkinson's disease 23
6043872	dcaf17	DOID:0112264 - Woodhouse-Sakati syndrome
6043878	fat2	DOID:0080287 - spinocerebellar ataxia 45
6043902	tex11	DOID:0070185 - X-linked spermatogenic failure 2
6044384	mtmr2	DOID:0110191 - Charcot-Marie-Tooth disease type 4B1
6044421	map1b	DOID:0050454 - periventricular nodular heterotopia
6044513	muc5b	DOID:0050156 - idiopathic pulmonary fibrosis
6044680	atp7b	DOID:893 - Wilson disease
6044812	clrn1	DOID:0110373 - retinitis pigmentosa 61|DOID:0110828 - Usher syndrome type 3|DOID:0110841 - Usher syndrome type 3A|DOID:10584 - retinitis pigmentosa
6044837	flna	DOID:0050454 - periventricular nodular heterotopia|DOID:0080681 - X-linked chronic idiopathic intestinal pseudo-obstruction|DOID:0111765 - X-linked cardiac valvular dysplasia|DOID:0111783 - otopalatodigital syndrome type 1|DOID:0111784 - otopalatodigital syndrome type 2|DOID:0111786 - frontometaphyseal dysplasia 1|DOID:0111788 - Melnick-Needles syndrome|DOID:0112149 - terminal osseous dysplasia|DOID:14711 - FG syndrome
6045054	kcne2	DOID:0050650 - familial atrial fibrillation|DOID:0110644 - long QT syndrome 1|DOID:0110648 - long QT syndrome 6
6045467	lrrc56	DOID:0050144 - Kartagener syndrome
6045752	plcb1	DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080459 - developmental and epileptic encephalopathy 12|DOID:2481 - infantile epileptic encephalopathy
6045768	med13l	DOID:0060770 - dextro-looped transposition of the great arteries|DOID:0060771 - obsolete dextro-looped transposition of the great arteries 1
6045811	ehbp1	DOID:10283 - prostate cancer
6046061	itgam	DOID:9074 - systemic lupus erythematosus
6046088	vars2	DOID:0111478 - combined oxidative phosphorylation deficiency 20
6046301	tpm3	DOID:0080102 - congenital myopathy 4A|DOID:0110926 - nemaline myopathy 1|DOID:0110927 - nemaline myopathy 3
6046732	adgre2	DOID:1554 - vibratory urticaria
6046830	padi4	DOID:7148 - rheumatoid arthritis
6046858	gipc3	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110470 - autosomal recessive nonsyndromic deafness 15
6046916	notch2	DOID:2736 - Hajdu-Cheney syndrome|DOID:9245 - Alagille syndrome
6047254	fig4	DOID:0060202 - amyotrophic lateral sclerosis type 11|DOID:0060589 - Yunis-Varon syndrome|DOID:0080923 - bilateral parasagittal parieto-occipital polymicrogyria|DOID:0110184 - Charcot-Marie-Tooth disease type 4J|DOID:332 - amyotrophic lateral sclerosis
6047372	kcnq2	DOID:0060169 - benign familial infantile epilepsy|DOID:0080462 - developmental and epileptic encephalopathy 7|DOID:14264 - benign neonatal seizures
6047392	adamtsl2	DOID:0111725 - geleophysic dysplasia 1
6047410	duox2	DOID:0112189 - thyroid dyshormonogenesis 6
6047449	cyp11b2	DOID:0080626 - corticosterone methyloxidase deficiency 1
6047483	cfap44	DOID:0070166 - spermatogenic failure 20
6047526	klhl10	DOID:0070180 - spermatogenic failure 11|DOID:14227 - azoospermia
6047569	myorg	DOID:0060230 - basal ganglia calcification
6047578	pts	DOID:0090106 - BH4-deficient hyperphenylalaninemia A
6047949	ttc21b	DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110088 - asphyxiating thoracic dystrophy 4|DOID:0110980 - Joubert syndrome 1|DOID:0111119 - nephronophthisis 12|DOID:0111124 - nephronophthisis 16
6048227	col9a1	DOID:12721 - multiple epiphyseal dysplasia
6048313	slc9a6	DOID:0060825 - Christianson syndrome
6048376	myh7b	DOID:0060480 - left ventricular noncompaction
6049109	gabrb1	DOID:0080428 - developmental and epileptic encephalopathy 45
6049176	arsl	DOID:0060292 - X-linked chondrodysplasia punctata 1
6049377	slc39a4	DOID:0050605 - acrodermatitis enteropathica
6049396	dchs1	DOID:0060238 - Van Maldergem syndrome|DOID:988 - mitral valve prolapse
6049480	pex6	DOID:0080624 - Heimler syndrome 2|DOID:905 - Zellweger syndrome
6049694	clcnkb	DOID:0050450 - Gitelman syndrome|DOID:0110144 - Bartter disease type 3|DOID:0110145 - Bartter disease type 4a|DOID:0110146 - Bartter disease type 4b
6049718	tfr2	DOID:0111030 - hemochromatosis type 3
6049795	pdzd7	DOID:0110838 - Usher syndrome type 2A|DOID:0110839 - Usher syndrome type 2C|DOID:0111635 - autosomal recessive nonsyndromic deafness 57
6050068	grik2	DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081182 - autosomal recessive intellectual developmental disorder 6
6050195	otulin	DOID:0080163 - otulipenia
6050251	piezo1	DOID:0111576 - dehydrated hereditary stomatocytosis 1
6050307	frmpd4	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112018 - non-syndromic X-linked intellectual disability 104
6050594	dync2i1	DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110094 - short-rib thoracic dysplasia 8 with or without polydactyly
6050615	grxcr2	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110462 - autosomal recessive nonsyndromic deafness 101
6050659	ltbp3	DOID:0090143 - brachyolmia-amelogenesis imperfecta syndrome|DOID:0111727 - geleophysic dysplasia 3
6050977	tspear	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110540 - autosomal recessive nonsyndromic deafness 98
6051084	prss56	DOID:0060835 - isolated microphthalmia 6
6051118	hepacam	DOID:0060867 - macrocephaly-autism syndrome|DOID:0080315 - megalencephalic leukoencephalopathy with subcortical cysts|DOID:0080316 - megalencephalic leukoencephalopathy with subcortical cysts 1|DOID:0080317 - megalencephalic leukoencephalopathy with subcortical cysts 2B|DOID:0080318 - megalencephalic leukoencephalopathy with subcortical cysts 2A
6052257	knl1	DOID:10907 - microcephaly
6052299	aggf1	DOID:2926 - Klippel-Trenaunay syndrome
6052363	ubr1	DOID:14694 - Johanson-Blizzard syndrome
6052388	rnf213	DOID:13099 - Moyamoya disease
6052813	myc	DOID:8584 - Burkitt lymphoma
6053270	maf	DOID:0110235 - cataract 2 multiple types|DOID:0110256 - cataract 21 multiple types|DOID:0111688 - Ayme-Gripp syndrome
6053329	raf1	DOID:0060583 - Noonan syndrome 5|DOID:0080549 - Noonan syndrome with multiple lentigines 2|DOID:0110432 - dilated cardiomyopathy 1NN|DOID:14291 - Noonan syndrome with multiple lentigines|DOID:3490 - Noonan syndrome
6054020	lck	DOID:0111937 - immunodeficiency 22
6054130	gaa	DOID:2752 - glycogen storage disease II
6054433	bptf	DOID:0070514 - neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
6054494	ptpn11	DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0060578 - Noonan syndrome 1|DOID:0111512 - metachondromatosis|DOID:14291 - Noonan syndrome with multiple lentigines|DOID:3490 - Noonan syndrome
6054674	abl1	DOID:8552 - chronic myeloid leukemia
6065246	casr	DOID:0060700 - familial hypocalciuric hypercalcemia 1|DOID:0090107 - autosomal dominant hypocalcemia 1|DOID:0090109 - autosomal dominant hypocalcemia|DOID:0111387 - familial isolated hypoparathyroidism|DOID:11199 - hypoparathyroidism
6065253	prss2	DOID:4989 - pancreatitis
6065291	rtn4r	DOID:5419 - schizophrenia
6067151	egfr	DOID:1324 - lung cancer
6067220	pik3r1	DOID:0081139 - agammaglobulinemia 7|DOID:0111454 - SHORT syndrome|DOID:0111949 - immunodeficiency 36|DOID:2583 - agammaglobulinemia
6070187	cntn2	DOID:0111691 - familial adult myoclonic epilepsy 5
6070708	thrb	DOID:0111374 - selective pituitary thyroid hormone resistance|DOID:11633 - thyroid hormone resistance syndrome
6070949	arid2	DOID:1925 - Coffin-Siris syndrome
6071043	trip12	DOID:0080234 - Clark-Baraitser syndrome
6071380	tpm2	DOID:0050646 - distal arthrogryposis|DOID:0080102 - congenital myopathy 4A|DOID:0110927 - nemaline myopathy 3|DOID:0110932 - nemaline myopathy 4|DOID:0111597 - distal arthrogryposis type 1A|DOID:0111600 - distal arthrogryposis type 2B1
6072919	pdgfra	DOID:9253 - gastrointestinal stromal tumor
6073494	tg	DOID:0112187 - thyroid dyshormonogenesis 3
6073779	samd12	DOID:0111690 - familial adult myoclonic epilepsy 1
6073788	hars1	DOID:0110842 - Usher syndrome type 3B
6074534	abcc9	DOID:0050451 - Brugada syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0060569 - hypertrichotic osteochondrodysplasia Cantu type|DOID:0110451 - dilated cardiomyopathy 1O
6074544	gjb4	DOID:0050467 - erythrokeratodermia variabilis
6074555	casq2	DOID:0060674 - catecholaminergic polymorphic ventricular tachycardia|DOID:0060675 - catecholaminergic polymorphic ventricular tachycardia 1|DOID:0060676 - catecholaminergic polymorphic ventricular tachycardia 2
6074602	cabp4	DOID:0050534 - congenital stationary night blindness|DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy
6074616	ubb	DOID:0110213 - isolated cleft palate
6076049	kctd1	DOID:0111550 - scalp-ear-nipple syndrome
6076140	kat6a	DOID:0070062 - Arboleda-Tham syndrome
6076379	gnb1	DOID:0070072 - autosomal dominant intellectual developmental disorder 42|DOID:9952 - acute lymphoblastic leukemia
6076449	dysf	DOID:0110276 - autosomal recessive limb-girdle muscular dystrophy type 2B|DOID:0111187 - distal myopathy with anterior tibial onset|DOID:11720 - distal myopathy
6076512	lrit3	DOID:0050534 - congenital stationary night blindness|DOID:0110864 - congenital stationary night blindness 1F
6076867	sh2d1a	DOID:0060705 - X-linked lymphoproliferative syndrome 1
6076922	hcfc1	DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0111814 - methylmalonic acidemia and homocysteinemia cblX type
6076959	card11	DOID:0111957 - immunodeficiency 11A|DOID:0111958 - immunodeficiency 11B
6077305	ccnd1	DOID:0050746 - mantle cell lymphoma|DOID:1040 - chronic lymphocytic leukemia|DOID:14175 - von Hippel-Lindau disease|DOID:9538 - multiple myeloma
6083457	xrcc2	DOID:13636 - Fanconi anemia
6083468	prss1.2	DOID:4989 - pancreatitis
6084256	sco1	DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
6084576	kcnj11	DOID:0050524 - maturity-onset diabetes of the young|DOID:0060334 - transient neonatal diabetes mellitus|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0070218 - familial hyperinsulinemic hypoglycemia 2|DOID:0111110 - maturity-onset diabetes of the young type 13|DOID:13317 - hyperinsulinemic hypoglycemia|DOID:9352 - type 2 diabetes mellitus
6085074	rasa1	DOID:2513 - basal cell carcinoma
6085117	col6a2	DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy
6085195	cog4	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070262 - congenital disorder of glycosylation type IIj|DOID:0111673 - Saul-Wilson syndrome
6085682	rnf113a	DOID:0111868 - nonphotosensitive trichothiodystrophy 5
6085730	serpind1	DOID:0111901 - heparin cofactor II deficiency
6085853	clcn1	DOID:0081336 - Thomsen disease|DOID:2106 - myotonia congenita
6085858	mafb	DOID:0111534 - multicentric carpotarsal osteolysis syndrome|DOID:12557 - Duane retraction syndrome
6085897	nras	DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0060584 - Noonan syndrome 6|DOID:0110117 - autoimmune lymphoproliferative syndrome type 4|DOID:0111162 - epidermal nevus|DOID:0111359 - large congenital melanocytic nevus|DOID:0111530 - linear nevus sebaceous syndrome|DOID:3490 - Noonan syndrome|DOID:3962 - follicular thyroid carcinoma|DOID:9256 - colorectal cancer
6087117	rag1	DOID:0060010 - Omenn syndrome|DOID:0090013 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive|DOID:0112253 - combined cellular and humoral immune defects with granulomas
6096144	pdgfrb	DOID:0060230 - basal ganglia calcification|DOID:0080109 - infantile myofibromatosis|DOID:0111344 - myeloproliferative disorder with eosinophilia
6250445	large1	DOID:0050560 - Walker-Warburg syndrome|DOID:0110637 - muscular dystrophy-dystroglycanopathy type B6
6250836	rbm8a	DOID:14699 - thrombocytopenia-absent radius syndrome
6251327	aars2	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0070396 - progressive leukoencephalopathy with ovarian failure|DOID:0111479 - combined oxidative phosphorylation deficiency 8
6257418	tbx6	DOID:0050568 - spondylocostal dysostosis|DOID:0112363 - spondylocostal dysostosis 5
6257495	mpdu1	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080558 - congenital disorder of glycosylation If
6257537	frrs1l	DOID:0060308 - autosomal recessive intellectual developmental disorder
6257669	pogz	DOID:0070067 - White-Sutton syndrome
6257735	lrtomt	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110515 - autosomal recessive nonsyndromic deafness 63
6257827	KIAA1549	DOID:10584 - retinitis pigmentosa
6257977	nup62	DOID:4751 - striatonigral degeneration
6258052	mad1l1	DOID:10283 - prostate cancer
6258063	npc2	DOID:0070114 - Niemann-Pick disease type C2
6258113	dnaaf3	DOID:0050144 - Kartagener syndrome|DOID:0110626 - primary ciliary dyskinesia 2
6258120	ttc19	DOID:0060351 - mitochondrial complex III deficiency nuclear type 2|DOID:0111139 - mitochondrial complex III deficiency
6258150	ada2	DOID:13096 - Sneddon syndrome|DOID:1339 - Diamond-Blackfan anemia
6258172	hmga2	DOID:13223 - uterine fibroid
6258196	rps14	DOID:0090016 - chromosome 5q deletion syndrome
6258208	max	DOID:0050771 - pheochromocytoma
6258220	wdr81	DOID:0050997 - cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
6258278	KIAA0319	DOID:4428 - dyslexia
6258281	ighmbp2	DOID:0110171 - Charcot-Marie-Tooth disease axonal type 2S|DOID:0111064 - autosomal recessive distal hereditary motor neuronopathy 1
6258322	tsg101	DOID:1612 - breast cancer
6258352	col2a1	DOID:0080026 - otospondylomegaepiphyseal dysplasia, autosomal recessive|DOID:0080028 - spondyloepimetaphyseal dysplasia, Strudwick type|DOID:0080044 - hypochondrogenesis|DOID:0080045 - Kniest dysplasia|DOID:0080046 - Stickler syndrome|DOID:0080056 - achondrogenesis type II|DOID:0080676 - Stickler syndrome 1|DOID:0111348 - multiple epiphyseal dysplasia with myopia and deafness|DOID:0111508 - Torrance type platyspondylic dysplasia|DOID:0112195 - spondyloperipheral dysplasia|DOID:0112281 - spondyloepiphyseal dysplasia Stanescu type|DOID:14415 - Legg-Calve-Perthes disease|DOID:14789 - spondyloepiphyseal dysplasia congenita
6258369	sgca	DOID:0110278 - autosomal recessive limb-girdle muscular dystrophy type 2D
6258378	col1a1	DOID:0080727 - Ehlers-Danlos syndrome arthrochalasia type 1|DOID:0110334 - osteogenesis imperfecta type 1|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110341 - osteogenesis imperfecta type 2|DOID:11476 - osteoporosis|DOID:14720 - Ehlers-Danlos syndrome classic type 1|DOID:4257 - Caffey disease
6258399	adat3	DOID:0081099 - neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
6258405	pacs1	DOID:0070047 - Schuurs-Hoeijmakers Syndrome
6258437	lpar6	DOID:0110705 - hypotrichosis 8
6258451	cbl	DOID:0050458 - juvenile myelomonocytic leukemia
6258531	myoc	DOID:1067 - open-angle glaucoma|DOID:1068 - juvenile glaucoma
6258536	ewsr1	DOID:3369 - Ewing sarcoma
6258571	hmcn1	DOID:0110014 - age related macular degeneration 1
6258602	diaph2	DOID:0080858 - primary ovarian insufficiency 2A|DOID:5426 - primary ovarian insufficiency
6258656	gnat2	DOID:0050795 - cone dystrophy|DOID:0110010 - achromatopsia 4|DOID:13911 - achromatopsia
6258722	crebbp	DOID:1933 - Rubinstein-Taybi syndrome
6258732	grap	DOID:0050565 - autosomal recessive nonsyndromic deafness
6258789	angptl3	DOID:0111061 - familial hypobetalipoproteinemia 2
6258822	calr3	DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110325 - hypertrophic cardiomyopathy 19
6258828	coa7	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
6258853	vapb	DOID:0050752 - amyotrophic lateral sclerosis type 8|DOID:0111194 - autosomal dominant adult-onset proximal spinal muscular atrophy|DOID:332 - amyotrophic lateral sclerosis
6258901	wac	DOID:0081126 - DeSanto-Shinawi syndrome
6259083	numa1	DOID:0060318 - acute promyelocytic leukemia
6259094	tufm	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111494 - combined oxidative phosphorylation deficiency 4
6259138	hmx1	DOID:0060482 - oculoauricular syndrome
6408099	mllt10	DOID:9119 - acute myeloid leukemia
6447551	scn2a	DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060169 - benign familial infantile epilepsy|DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0080421 - developmental and epileptic encephalopathy 11|DOID:0081116 - benign familial infantile seizures 3|DOID:0111302 - generalized epilepsy with febrile seizures plus 1
6449529	chrnb1	DOID:0110663 - congenital myasthenic syndrome 1A|DOID:0110679 - congenital myasthenic syndrome 4C|DOID:0110680 - congenital myasthenic syndrome 2C|DOID:0110681 - congenital myasthenic syndrome 2A
6449551	coro1a	DOID:0060019 - coronin-1A deficiency
6449730	syn1	DOID:0112122 - X-linked epilepsy with variable learning disabilities and behavior disorders
6449943	pcnt	DOID:0060609 - microcephalic osteodysplastic primordial dwarfism type II
6450007	notch3	DOID:0080109 - infantile myofibromatosis|DOID:0111035 - CADASIL 1|DOID:0111343 - lateral meningocele syndrome|DOID:13945 - CADASIL
6451171	kiss1	DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090073 - hypogonadotropic hypogonadism 13 with or without anosmia
6451229	btk	DOID:0060875 - isolated growth hormone deficiency type III|DOID:14179 - X-linked agammaglobulinemia
6451332	tert	DOID:0050156 - idiopathic pulmonary fibrosis|DOID:0070014 - autosomal dominant dyskeratosis congenita 1|DOID:0070016 - autosomal dominant dyskeratosis congenita 2|DOID:0070021 - autosomal recessive dyskeratosis congenita 4|DOID:12449 - aplastic anemia|DOID:2729 - dyskeratosis congenita|DOID:9119 - acute myeloid leukemia
6451484	col4a1	DOID:0050560 - Walker-Warburg syndrome|DOID:0060263 - porencephaly|DOID:0090125 - brain small vessel disease 1|DOID:0111547 - retinal arterial tortuosity
6453026	slc22a18	DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:3246 - embryonal rhabdomyosarcoma
6453245	fgd1	DOID:6683 - X-linked Aarskog syndrome
6453364	hamp	DOID:0111032 - hemochromatosis type 2B|DOID:0111034 - hemochromatosis type 2
6453388	surf1	DOID:0110187 - Charcot-Marie-Tooth disease type 4K|DOID:3652 - Leigh disease
6453443	galt	DOID:0111459 - classic galactosemia|DOID:9870 - galactosemia
6453553	enam	DOID:0110052 - amelogenesis imperfecta type 1B|DOID:0110056 - amelogenesis imperfecta type 1C
6453712	sycp2	DOID:0070188 - spermatogenic failure 1
6453898	brca2	DOID:0050902 - medulloblastoma|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111089 - Fanconi anemia complementation group D1|DOID:10283 - prostate cancer|DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer|DOID:2154 - nephroblastoma|DOID:5683 - hereditary breast ovarian cancer syndrome
6453973	psmb4	DOID:0060916 - proteasome-associated autoinflammatory syndrome 3
6454014	pgap2	DOID:0070435 - hyperphosphatasia with impaired intellectual development syndrome 3
6454231	edn3	DOID:0060731 - congenital central hypoventilation syndrome|DOID:0110953 - Waardenburg syndrome type 4A|DOID:0110954 - Waardenburg syndrome type 4B
6454243	gdf6	DOID:0060836 - isolated microphthalmia 4|DOID:0081320 - multiple synostoses syndrome 4|DOID:0110217 - Leber congenital amaurosis 17|DOID:10426 - Klippel-Feil syndrome|DOID:10629 - microphthalmia|DOID:14791 - Leber congenital amaurosis
6455903	irs2	DOID:9352 - type 2 diabetes mellitus
6455912	pam16	DOID:0112304 - spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
6455951	mpv17	DOID:0080125 - mitochondrial DNA depletion syndrome 6|DOID:0080126 - mitochondrial DNA depletion syndrome 7
6456352	nrl	DOID:0110397 - retinitis pigmentosa 27|DOID:10584 - retinitis pigmentosa
6456430	ctc1	DOID:2729 - dyskeratosis congenita
6456839	selenon	DOID:0080102 - congenital myopathy 4A|DOID:0110633 - rigid spine muscular dystrophy 1
6456894	plg	DOID:0111592 - plasminogen deficiency type I
6457023	ifngr1	DOID:0111955 - immunodeficiency 27A|DOID:0111956 - immunodeficiency 27B
6457313	ebp	DOID:0060292 - X-linked chondrodysplasia punctata 1|DOID:0111865 - MEND syndrome
6457401	cnpy3	DOID:0050562 - West syndrome|DOID:0080432 - developmental and epileptic encephalopathy 60
6457433	pqbp1	DOID:0060179 - Renpenning syndrome
6457495	ptdss1	DOID:0111507 - Lenz-Majewski hyperostotic dwarfism
6457545	gba1	DOID:0060892 - late onset Parkinson's disease|DOID:0110957 - Gaucher's disease type I|DOID:0110958 - Gaucher's disease type II|DOID:0110959 - Gaucher's disease type III|DOID:0110960 - Gaucher's disease perinatal lethal|DOID:0112250 - Gaucher's disease type IIIC|DOID:12217 - Lewy body dementia|DOID:14330 - Parkinson's disease
6457579	wdr4	DOID:0060364 - Galloway-Mowat syndrome 1
6457591	cyc1	DOID:0080115 - mitochondrial complex III deficiency nuclear type 6|DOID:0111139 - mitochondrial complex III deficiency
6457607	tmem107	DOID:0050778 - Meckel syndrome|DOID:0080253 - Meckel syndrome 13|DOID:0080254 - orofaciodigital syndrome XVI
6457635	uqcrb	DOID:0080112 - mitochondrial complex III deficiency nuclear type 3|DOID:0111139 - mitochondrial complex III deficiency
6457656	pmvk	DOID:3805 - porokeratosis
6457661	timmdc1	DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1
6457718	poglut1	DOID:0060256 - Dowling-Degos disease|DOID:0080762 - autosomal recessive limb-girdle muscular dystrophy type 2Z
6457748	nsmce2	DOID:0070008 - Seckel syndrome 10
6458118	dtna	DOID:0060480 - left ventricular noncompaction
6458530	prg4	DOID:0090127 - camptodactyly-arthropathy-coxa vara-pericarditis syndrome
6458552	znf469	DOID:14775 - brittle cornea syndrome 1
6458565	zmynd15	DOID:0070179 - spermatogenic failure 14|DOID:14227 - azoospermia
6458603	dmp1	DOID:0050949 - autosomal recessive hypophosphatemic rickets
6458609	dspp	DOID:4154 - dentinogenesis imperfecta|DOID:701 - dentin dysplasia
6458637	amh	DOID:0050791 - persistent Mullerian duct syndrome
6458644	wnt5a	DOID:0060766 - autosomal dominant Robinow syndrome 1
6458761	atn1	DOID:0060162 - dentatorubral-pallidoluysian atrophy
6459004	mapre2	DOID:0112243 - congenital symmetric circumferential skin creases 2
6459020	dnai1	DOID:0050144 - Kartagener syndrome|DOID:0110594 - primary ciliary dyskinesia 1
6459156	nup214	DOID:9119 - acute myeloid leukemia|DOID:9952 - acute lymphoblastic leukemia
6459210	trdn	DOID:0060674 - catecholaminergic polymorphic ventricular tachycardia|DOID:0060675 - catecholaminergic polymorphic ventricular tachycardia 1|DOID:0060679 - catecholaminergic polymorphic ventricular tachycardia 5|DOID:0110644 - long QT syndrome 1
6459217	sp110	DOID:0112254 - hepatic venoocclusive disease with immunodeficiency
6459278	il10ra	DOID:0110899 - inflammatory bowel disease 28
6459395	plec	DOID:0060733 - junctional epidermolysis bullosa with pyloric atresia|DOID:0060736 - epidermolysis bullosa simplex Ogna type|DOID:0090017 - epidermolysis bullosa simplex with muscular dystrophy|DOID:0110285 - autosomal recessive limb-girdle muscular dystrophy type 2Q
6459568	epor	DOID:0060652 - familial erythrocytosis 1
6459623	slc35a2	DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070265 - congenital disorder of glycosylation type IIm
6459671	sfxn4	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111484 - combined oxidative phosphorylation deficiency 18
6459771	myh11	DOID:0060610 - megacystis-microcolon-intestinal hypoperistalsis syndrome|DOID:14004 - thoracic aortic aneurysm
6459862	il17ra	DOID:0111996 - immunodeficiency 51|DOID:2058 - chronic mucocutaneous candidiasis
6460075	foxp3	DOID:0090110 - immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome|DOID:9744 - type 1 diabetes mellitus
6460207	tnfaip3	DOID:0080944 - familial Behcet-like autoinflammatory syndrome
6460426	mamld1	DOID:10892 - hypospadias
6460748	adamts17	DOID:0050475 - Weill-Marchesani syndrome
6461128	pop1	DOID:0050640 - anauxetic dysplasia 1|DOID:0080962 - anauxetic dysplasia 2
6461261	aire	DOID:0050167 - autoimmune polyendocrine syndrome type 1
6461968	rnaseh2c	DOID:0050629 - Aicardi-Goutieres syndrome
6462292	uqcc3	DOID:0080118 - mitochondrial complex III deficiency nuclear type 9|DOID:0111139 - mitochondrial complex III deficiency
6462315	cox8a	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
6462343	mt-cyb	DOID:0111139 - mitochondrial complex III deficiency|DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6462409	sik1	DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:308 - early myoclonic encephalopathy
6462438	eda	DOID:0050591 - tooth agenesis|DOID:0111664 - ectodermal dysplasia 1|DOID:14793 - hypohidrotic ectodermal dysplasia
6462483	mag	DOID:0110820 - hereditary spastic paraplegia 75
6462745	col13a1	DOID:0110673 - congenital myasthenic syndrome 19
6462903	il17rc	DOID:2058 - chronic mucocutaneous candidiasis
6462925	ccdc141	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:3614 - Kallmann syndrome
6464188	pnpla1	DOID:0060719 - autosomal recessive congenital ichthyosis 10|DOID:1699 - congenital ichthyosiform erythroderma
6464201	cfap418	DOID:0050572 - cone-rod dystrophy|DOID:0111022 - cone-rod dystrophy 16|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome
6464244	cfap43	DOID:0070170 - spermatogenic failure 19|DOID:1572 - normal pressure hydrocephalus
6464268	ddx3y	DOID:0070187 - Y-linked spermatogenic failure 2|DOID:14227 - azoospermia
6464667	ucp3	DOID:9970 - obesity
6464886	bdp1	DOID:0050565 - autosomal recessive nonsyndromic deafness
6465356	hspg2	DOID:0090005 - Schwartz-Jampel syndrome 1|DOID:0090032 - Silverman-Handmaker type dyssegmental dysplasia
6465365	abcc6	DOID:0050632 - oculocutaneous albinism|DOID:0050644 - arterial calcification of infancy|DOID:2738 - pseudoxanthoma elasticum
6465464	rbm20	DOID:0110447 - dilated cardiomyopathy 1DD
6465534	cfap221	DOID:0050144 - Kartagener syndrome
6465713	gnmt	DOID:0111037 - glycine N-methyltransferase deficiency
6466715	mt-nd1	DOID:0060536 - mitochondrial complex I deficiency|DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6467220	serpina6	DOID:0090030 - corticosteroid-binding globulin deficiency
6467298	arhgap31	DOID:0060227 - Adams-Oliver syndrome
6467361	mesp2	DOID:0050568 - spondylocostal dysostosis|DOID:0112362 - spondylocostal dysostosis 2|DOID:0112365 - spondylocostal dysostosis 1
6467429	cic	DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080236 - autosomal dominant intellectual developmental disorder 45
6467523	loxhd1	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110525 - autosomal recessive nonsyndromic deafness 77
6467920	col17a1	DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type|DOID:0070337 - epithelial recurrent erosion dystrophy
6468279	slc9a3	DOID:0060777 - congenital secretory sodium diarrhea 8
6468378	sftpa1	DOID:0050156 - idiopathic pulmonary fibrosis
6468586	myh14	DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110573 - autosomal dominant nonsyndromic deafness 4A
6468755	col10a1	DOID:0080021 - Schmid metaphyseal chondrodysplasia
6469080	brsk2	DOID:0060307 - autosomal dominant intellectual developmental disorder
6469125	tex15	DOID:0111920 - spermatogenic failure 25
6469645	arsg	DOID:0110828 - Usher syndrome type 3
6485440	terc	DOID:0070014 - autosomal dominant dyskeratosis congenita 1|DOID:2729 - dyskeratosis congenita
6485444	mt-atp6	DOID:0111143 - mitochondrial complex V (ATP synthase) deficiency|DOID:0111273 - NARP syndrome|DOID:705 - Leber hereditary optic neuropathy
6485457	mt-co3	DOID:3687 - MELAS syndrome|DOID:3762 - cytochrome-c oxidase deficiency disease|DOID:705 - Leber hereditary optic neuropathy
6485476	mt-nd5	DOID:310 - MERRF syndrome|DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6485486	mt-nd2	DOID:0060536 - mitochondrial complex I deficiency|DOID:705 - Leber hereditary optic neuropathy
6485495	mt-nd3	DOID:0060536 - mitochondrial complex I deficiency
6485500	mt-nd4	DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6485504	mt-nd6	DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6485508	mt-nd4l	DOID:705 - Leber hereditary optic neuropathy
6489425	tyrobp	DOID:0090112 - Nasu-Hakola disease
6489512	krt12.6	DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1
6492031	tcof1	DOID:0080789 - Treacher Collins syndrome 1|DOID:2908 - Treacher Collins syndrome
6492057	tlr4	DOID:0110022 - age related macular degeneration 10
6492273	cdkn1b	DOID:0080137 - multiple endocrine neoplasia type 4
6492279	krt12.2	DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1
6538668	dnajc5	DOID:0110720 - neuronal ceroid lipofuscinosis 4
6539632	ripply2.2	DOID:0112360 - spondylocostal dysostosis 6
6539689	krt12.4	DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1
6540413	mmp13	DOID:0080030 - spondyloepimetaphyseal dysplasia, Missouri type
12440936	epo	DOID:0080290 - familial erythrocytosis 5
12531593	cdh1	DOID:0080764 - hereditary diffuse gastric cancer|DOID:10283 - prostate cancer|DOID:10534 - stomach cancer|DOID:1380 - endometrial cancer|DOID:1612 - breast cancer|DOID:2394 - ovarian cancer
12563712	pcare	DOID:0110364 - retinitis pigmentosa 54|DOID:10584 - retinitis pigmentosa
12564474	glis2	DOID:0111112 - nephronophthisis 1|DOID:0111116 - nephronophthisis 7
12565276	cox14	DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease
13579779	mocos	DOID:0060236 - xanthinuria|DOID:0070453 - xanthinuria type II
13579783	pet117	DOID:3762 - cytochrome-c oxidase deficiency disease
13579808	ckap2l	DOID:0112194 - Filippi syndrome
13579838	mtrfr	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0110807 - hereditary spastic paraplegia 55|DOID:0111487 - combined oxidative phosphorylation deficiency 7
13579896	blk	DOID:0050524 - maturity-onset diabetes of the young|DOID:0111109 - maturity-onset diabetes of the young type 11
18006562	cd79b	DOID:0081138 - agammaglobulinemia 6|DOID:2583 - agammaglobulinemia
18034121	rho.2	DOID:0050534 - congenital stationary night blindness|DOID:0110372 - retinitis pigmentosa 4|DOID:0110862 - congenital stationary night blindness autosomal dominant 1|DOID:10584 - retinitis pigmentosa|DOID:11105 - fundus albipunctatus
18386060	cyp27a1.3	DOID:4810 - cerebrotendinous xanthomatosis
22041447	mcidas	DOID:0050144 - Kartagener syndrome
22041687	cat.3	DOID:2582 - acatalasia
22041739	otog	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110474 - autosomal recessive nonsyndromic deafness 18B
22060528	g6pc1.3	DOID:2749 - glycogen storage disease Ia
22060943	krt12.3	DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1
22060991	krt9	DOID:0080223 - epidermolytic palmoplantar keratoderma
22060995	krt9.2	DOID:0080223 - epidermolytic palmoplantar keratoderma
22061121	otogl	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110530 - autosomal recessive nonsyndromic deafness 84B
22061168	tctn3	DOID:0060374 - orofaciodigital syndrome IV|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0110987 - Joubert syndrome 18
22061499	apoc2	DOID:0111418 - familial apolipoprotein C-II deficiency
22061503	hyls1	DOID:0050777 - Joubert syndrome|DOID:0050779 - hydrolethalus syndrome|DOID:0111355 - hydrolethalus syndrome 1
22061923	guca1a	DOID:0050572 - cone-rod dystrophy|DOID:0050795 - cone dystrophy|DOID:0080314 - cone-rod dystrophy 14
22062172	slc26a3.3	DOID:0060296 - congenital secretory chloride diarrhea 1
22062176	slc26a4	DOID:0050332 - enlarged vestibular aqueduct|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4
22062180	slc26a4.2	DOID:0050332 - enlarged vestibular aqueduct|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4
22062346	cryba1.2	DOID:0110258 - cataract 10 multiple types
22062971	slc6a4	DOID:2030 - anxiety disorder
22063042	col11a1	DOID:0060465 - fibrochondrogenesis|DOID:0080046 - Stickler syndrome|DOID:0080672 - fibrochondrogenesis 1|DOID:0080675 - Stickler syndrome 2|DOID:0111510 - Marshall syndrome
22063559	kras	DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0050469 - Costello syndrome|DOID:0060233 - cardiofaciocutaneous syndrome|DOID:0060581 - Noonan syndrome 3|DOID:0060688 - arteriovenous malformations of the brain|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0110117 - autoimmune lymphoproliferative syndrome type 4|DOID:0111461 - cardiofaciocutaneous syndrome 2|DOID:0111530 - linear nevus sebaceous syndrome|DOID:10534 - stomach cancer|DOID:11054 - urinary bladder cancer|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:3490 - Noonan syndrome|DOID:4845 - pilomyxoid astrocytoma|DOID:4905 - pancreatic carcinoma|DOID:9119 - acute myeloid leukemia
22063720	fam20a.2	DOID:0110066 - amelogenesis imperfecta type 1G
22063821	tuba1a	DOID:0050453 - lissencephaly|DOID:0112232 - lissencephaly 3
22064172	cyp2a6.10	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
22064220	cyp2a6.12	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
22064352	cyp2a6.11	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
22064356	cyp2a6.4	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
22064359	cyp2a6.5	DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer
22064560	fth1.2	DOID:0111031 - hemochromatosis type 5
22064806	cep55	DOID:0050778 - Meckel syndrome
22065095	spn	DOID:9169 - Wiskott-Aldrich syndrome
22067987	amer1	DOID:0060886 - osteopathia striata with cranial sclerosis
22068144	cabp2	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110537 - autosomal recessive nonsyndromic deafness 93
22068155	cblif	DOID:0050734 - congenital intrinsic factor deficiency
22068200	cd164	DOID:0050564 - autosomal dominant nonsyndromic deafness
22068222	cdkn1c	DOID:0050885 - IMAGe syndrome|DOID:5572 - Beckwith-Wiedemann syndrome
22068290	col7a1	DOID:0060642 - recessive dystrophic epidermolysis bullosa|DOID:0080086 - nonsyndromic congenital nail disorder 8
22068349	dnaaf1	DOID:0050144 - Kartagener syndrome|DOID:0110618 - primary ciliary dyskinesia 13
22068376	eng	DOID:1270 - hereditary hemorrhagic telangiectasia
22068477	gabrb2	DOID:0080471 - developmental and epileptic encephalopathy 92
22068523	hsf4	DOID:0110255 - cataract 5 multiple types
22068574	krt6b	DOID:0050449 - pachyonychia congenita
22068923	plvap	DOID:0060778 - congenital diarrhea 7 with exudative enteropathy
22068936	podxl	DOID:0060894 - early-onset Parkinson's disease
22068966	prop1	DOID:9410 - panhypopituitarism
22069037	ptprj	DOID:9256 - colorectal cancer
22069116	sftpa2	DOID:0050156 - idiopathic pulmonary fibrosis
22069345	tnfsf12	DOID:12177 - common variable immunodeficiency
22069352	tprn	DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110526 - autosomal recessive nonsyndromic deafness 79
22164539	mylk	DOID:0060610 - megacystis-microcolon-intestinal hypoperistalsis syndrome|DOID:14004 - thoracic aortic aneurysm
22164548	c5.2	DOID:8158 - complement component 5 deficiency
22168628	epb42	DOID:0110920 - hereditary spherocytosis type 5|DOID:12971 - hereditary spherocytosis
22169449	jph3.2	DOID:0090104 - Huntington's disease-like 2
22172431	alg13	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0080470 - developmental and epileptic encephalopathy 36
22172598	guca1b	DOID:0110382 - retinitis pigmentosa 48|DOID:10584 - retinitis pigmentosa
22251944	mt-tl1	DOID:0050700 - cardiomyopathy
29072347	axin2	DOID:0050591 - tooth agenesis|DOID:9256 - colorectal cancer
29076865	atp5f1e	DOID:0060332 - mitochondrial complex V (ATP synthase) deficiency nuclear type 3
29076889	bean1	DOID:0050980 - spinocerebellar ataxia type 31
29077110	cpt1a	DOID:0090129 - carnitine palmitoyltransferase I deficiency
29093450	cyp27a1.2	DOID:4810 - cerebrotendinous xanthomatosis