XB 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:1099 - alpha thalassemia
478155	c2	DOID:0060295 - complement component 2 deficiency|DOID:0110026 - age related macular degeneration 14
478164	gata2	DOID:0050908 - myelodysplastic syndrome|DOID:9119 - acute myeloid leukemia
478183	gdf2	DOID:1270 - hereditary hemorrhagic telangiectasia
478209	fzd4	DOID:0050535 - exudative vitreoretinopathy
478219	suclg1	DOID:0080128 - mitochondrial DNA depletion syndrome 9
478293	rab28	DOID:0111024 - cone-rod dystrophy 18
478354	fgg	DOID:2236 - congenital afibrinogenemia
478382	pygl	DOID:2754 - glycogen storage disease VI
478436	mapk8ip1	DOID:9352 - type 2 diabetes mellitus
478451	crx	DOID:0111005 - cone-rod dystrophy 2|DOID:10584 - retinitis pigmentosa
478543	foxe1	DOID:0050655 - Bamforth-Lazarus syndrome
478586	tgfbr1	DOID:0060690 - autosomal dominant auditory neuropathy 1
478628	tnni2	DOID:0050646 - distal arthrogryposis
478662	prkcd	DOID:0110119 - autoimmune lymphoproliferative syndrome type 3
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 - mitochondrial DNA depletion syndrome 4a|DOID:1442 - Alpers syndrome
478806	fras1	DOID:0090001 - Fraser syndrome
478812	fzd6	DOID:0080088 - nonsyndromic congenital nail disorder 10
478821	map2k1	DOID:0060233 - cardiofaciocutaneous syndrome|DOID:0060578 - Noonan syndrome 1
478849	acvr1	DOID:13374 - fibrodysplasia ossificans progressiva
478858	mycn	DOID:0060464 - Feingold syndrome
478868	avp	DOID:12388 - neurohypophyseal diabetes insipidus
478880	c4a	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:0111021 - cone-rod dystrophy 15
478991	stat4	DOID:7148 - rheumatoid arthritis|DOID:9074 - systemic lupus erythematosus
479054	foxc1	DOID:0050786 - iridogoniodysgenesis syndrome
479153	app	DOID:0070028 - APP-related cerebral amyloid angiopathy|DOID:10652 - Alzheimer's disease
479190	bmp1	DOID:0110342 - osteogenesis imperfecta type 13
479254	fgfr3	DOID:0050331 - LADD syndrome|DOID:0060703 - Muenke Syndrome|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:14702 - branchiootorenal syndrome
479288	sufu	DOID:0050902 - medulloblastoma|DOID:2512 - nevoid basal cell carcinoma syndrome
479298	bmp15	DOID:5426 - premature ovarian failure
479305	ms4a1	DOID:12177 - common variable immunodeficiency
479311	slc12a3l	DOID:0050450 - Gitelman syndrome
479317	notch1	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:11054 - urinary bladder cancer|DOID:3962 - follicular thyroid carcinoma
479388	umod.1	DOID:0060062 - familial juvenile hyperuricemic nephropathy
479394	ttr	DOID:0050638 - transthyretin amyloidosis|DOID:12169 - carpal tunnel syndrome
479428	ar	DOID:0060161 - Kennedy's disease|DOID:10283 - prostate cancer|DOID:10892 - hypospadias|DOID:4674 - androgen insensitivity syndrome
479537	aicda	DOID:0060758 - immunodeficiency with hyper-IgM type 2
479557	zeb2	DOID:0060485 - Mowat-Wilson syndrome
479642	mybpc3	DOID:0110310 - hypertrophic cardiomyopathy 4|DOID:0110425 - dilated cardiomyopathy 1A
479666	pou3f4	DOID:0050566 - X-linked nonsyndromic deafness|DOID:10003 - sensorineural hearing loss
479788	ace	DOID:10652 - Alzheimer's disease
479801	twist1	DOID:14768 - Saethre-Chotzen syndrome
479867	tp63	DOID:0050601 - ADULT syndrome|DOID:0060330 - Rapp-Hodgkin syndrome|DOID:0060783 - ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3|DOID:0090023 - split hand-foot malformation 4|DOID:0090119 - ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
479917	il10	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
479989	bmpr2	DOID:14557 - primary pulmonary hypertension|DOID:5453 - pulmonary venoocclusive disease
480075	foxg1	DOID:1206 - Rett syndrome
480102	mfn2	DOID:0080068 - Charcot-Marie-Tooth disease type 6|DOID:0110155 - Charcot-Marie-Tooth disease type 2A2
480130	tnf	DOID:6364 - migraine
480137	agt	DOID:10825 - essential hypertension
480185	il6	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:10652 - Alzheimer's disease
480303	sox10	DOID:0090111 - PCWH syndrome|DOID:0110953 - Waardenburg syndrome type 4A|DOID:0110956 - Waardenburg syndrome type 2E
480313	pde6d	DOID:0110991 - Joubert syndrome 22
480319	hspb1	DOID:0110163 - Charcot-Marie-Tooth disease axonal type 2F
480346	actc1	DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110317 - hypertrophic cardiomyopathy 11
480430	zic3	DOID:0050545 - visceral heterotaxy
480458	casp10	DOID:0060060 - non-Hodgkin lymphoma|DOID:0110115 - autoimmune lymphoproliferative syndrome type 2A|DOID:10534 - stomach cancer
480505	tf	DOID:0050649 - atransferrinemia
480514	tnnc1	DOID:0110307 - hypertrophic cardiomyopathy 1|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:11367 - congenital aphakia
480646	cyp21a2.1	DOID:0050811 - congenital adrenal hyperplasia
480697	nos3	DOID:10591 - pre-eclampsia|DOID:10652 - Alzheimer's disease|DOID:10825 - essential hypertension|DOID:6713 - cerebrovascular disease
480716	six1	DOID:0060232 - branchiootic syndrome|DOID:0110553 - autosomal dominant nonsyndromic deafness 23|DOID:14702 - branchiootorenal syndrome
480726	sox4	DOID:1925 - Coffin-Siris syndrome
480736	hoxa1	DOID:0050682 - Athabaskan brainstem dysgenesis syndrome
480764	spry4	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090079 - hypogonadotropic hypogonadism 17 with or without anosmia
480835	rara	DOID:0060318 - acute promyelocytic leukemia
480854	apc	DOID:0050424 - familial adenomatous polyposis|DOID:0050902 - medulloblastoma|DOID:10534 - stomach cancer|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
480892	nr4a2	DOID:14330 - Parkinson's disease
480946	rps6ka3	DOID:3783 - Coffin-Lowry syndrome
480956	igf2r	DOID:684 - hepatocellular carcinoma
480982	fgf8	DOID:0090086 - hypogonadotropic hypogonadism 6 with or without anosmia
481037	gjb1	DOID:0110209 - Charcot-Marie-Tooth disease X-linked dominant 1
481046	stat3.1	DOID:3261 - Job's syndrome
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:12849 - autistic disorder|DOID:4465 - papillary renal cell carcinoma|DOID:684 - hepatocellular carcinoma
481306	smad6	DOID:1712 - aortic valve stenosis
481372	flt3	DOID:9119 - acute myeloid leukemia
481381	foxc2	DOID:0050468 - yellow nail syndrome|DOID:0050580 - hereditary lymphedema
481400	aqp2	DOID:12387 - nephrogenic diabetes insipidus
481418	gdf1	DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot
481435	ghr	DOID:13810 - familial hypercholesterolemia|DOID:9521 - Laron syndrome
481538	f2	DOID:2235 - prothrombin deficiency|DOID:2452 - thrombophilia|DOID:6713 - cerebrovascular disease
481587	tnnt1	DOID:0110936 - nemaline myopathy 5
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:10652 - Alzheimer's disease
481755	il1b	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:0110965 - brachydactyly type A2|DOID:0110970 - brachydactyly type C
481793	zfpm2	DOID:3827 - congenital diaphragmatic hernia|DOID:6419 - tetralogy of Fallot
481809	gli2	DOID:0110873 - holoprosencephaly 9
481819	lrp6	DOID:3393 - coronary artery disease
481828	bmp2	DOID:0110965 - brachydactyly type A2|DOID:0111029 - hemochromatosis type 1
481848	tnxb	DOID:14757 - type III Ehlers-Danlos syndrome
481879	fgf20	DOID:14330 - Parkinson's disease
481897	amn	DOID:13382 - megaloblastic anemia
481915	psen1	DOID:0110042 - Alzheimer's disease 3|DOID:11870 - Pick's disease|DOID:9255 - frontotemporal dementia
481991	smad3	DOID:0050466 - Loeys-Dietz syndrome
482020	runx2	DOID:13994 - cleidocranial dysplasia
482029	mfrp	DOID:0060837 - isolated microphthalmia 5|DOID:10629 - microphthalmia
482054	dlc1	DOID:9256 - colorectal cancer
482084	slc4a11	DOID:0060649 - congenital hereditary endothelial dystrophy of cornea
482090	myl2	DOID:0110316 - hypertrophic cardiomyopathy 10
482110	pkd2	DOID:0110859 - polycystic kidney disease 2
482117	il4r	DOID:635 - acquired immunodeficiency syndrome
482175	csf3r	DOID:0090120 - hereditary neutrophilia
482184	tubb	DOID:0090136 - complex cortical dysplasia with other brain malformations 6
482192	esr1	DOID:1612 - breast cancer|DOID:6364 - migraine
482202	tnfrsf11a	DOID:0110946 - autosomal recessive osteopetrosis 7|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
482286	avpr2	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:11193 - syndactyly
482339	il2rg	DOID:0060013 - gamma chain deficiency|DOID:628 - combined T cell and B cell immunodeficiency
482399	timp3	DOID:0090114 - Sorsby's fundus dystrophy
482418	hnf4a	DOID:0050524 - maturity-onset diabetes of the young|DOID:0111099 - maturity-onset diabetes of the young type 1|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
482471	fgfrl1	DOID:0050460 - Wolf-Hirschhorn syndrome
482491	pitx2	DOID:0050786 - iridogoniodysgenesis syndrome|DOID:0060673 - Peters anomaly|DOID:0110120 - Axenfeld-Rieger syndrome type 1
482501	mpo	DOID:10652 - Alzheimer's disease
482527	foxo1	DOID:4051 - alveolar rhabdomyosarcoma
482585	igf2	DOID:14681 - Silver-Russell syndrome|DOID:2154 - nephroblastoma|DOID:5572 - Beckwith-Wiedemann syndrome
482604	tnnt3	DOID:0050646 - distal arthrogryposis
482613	tnnt2	DOID:0110308 - hypertrophic cardiomyopathy 2|DOID:0110426 - dilated cardiomyopathy 1D|DOID:397 - restrictive cardiomyopathy
482653	zic2	DOID:0110878 - holoprosencephaly 5
482663	wnt10b	DOID:0090026 - split hand-foot malformation 6
482739	pax3	DOID:0110948 - Waardenburg syndrome type 1|DOID:0110949 - Waardenburg syndrome type 3|DOID:4051 - alveolar rhabdomyosarcoma
482812	atp1b1	DOID:10825 - essential hypertension
482958	ncf2	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:10629 - microphthalmia
483084	nr3c2	DOID:0060855 - autosomal dominant pseudohypoaldosteronism type 1
483135	pparg	DOID:0050440 - familial partial lipodystrophy|DOID:3070 - malignant glioma|DOID:9352 - type 2 diabetes mellitus|DOID:9970 - obesity
483145	six6	DOID:10629 - microphthalmia
483154	tecta.2	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
483215	fgb	DOID:2236 - congenital afibrinogenemia
483260	il1rapl1	DOID:0050776 - non-syndromic X-linked intellectual disability
483281	cd19	DOID:12177 - common variable immunodeficiency
483323	mstn.1	DOID:0111072 - myostatin-related muscle hypertrophy
483330	pdx1	DOID:0050877 - pancreatic agenesis|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:9352 - type 2 diabetes mellitus
483378	ctbp1	DOID:0050460 - Wolf-Hirschhorn syndrome
483408	pkd1	DOID:0110858 - polycystic kidney disease 1
483417	sox11	DOID:0070057 - autosomal dominant non-syndromic intellectual disability 27
483454	bmpr1b	DOID:0110965 - brachydactyly type A2
483464	dhh	DOID:14448 - 46 XY gonadal dysgenesis
483509	esrrb	DOID:0110493 - autosomal recessive nonsyndromic deafness 35
483529	csf2rb	DOID:12120 - pulmonary alveolar proteinosis
483563	rab7a	DOID:0110159 - Charcot-Marie-Tooth disease type 2B
483673	fgf14	DOID:0050976 - spinocerebellar ataxia type 27
483683	tek	DOID:0050792 - multiple cutaneous and mucosal venous malformations
483692	pax8	DOID:0070124 - congenital nongoitrous hypothryoidism 2
483702	pomc	DOID:9970 - obesity
483711	jak2	DOID:0060652 - familial erythrocytosis 1|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:0110358 - retinitis pigmentosa 12
483794	gdnf	DOID:0050771 - phaeochromocytoma|DOID:0060731 - congenital central hypoventilation syndrome
483869	dvl1	DOID:0060766 - autosomal dominant Robinow syndrome 1
483939	arx	DOID:0050453 - lissencephaly|DOID:0050709 - Ohtahara syndrome|DOID:14744 - Partington syndrome
483949	tacc3	DOID:11054 - urinary bladder cancer
483959	kcnj1	DOID:0110143 - Bartter disease type 2
483982	smarca4	DOID:0070046 - Coffin-Siris syndrome 4
484049	nppa	DOID:0050650 - familial atrial fibrillation
484087	pax6	DOID:0060673 - Peters anomaly|DOID:0110266 - cataract 9 multiple types|DOID:11975 - coloboma of optic nerve|DOID:12270 - coloboma|DOID:12271 - aniridia|DOID:14515 - WAGR syndrome
484097	wnt4	DOID:14450 - 46 XX gonadal dysgenesis
484116	hnf1a	DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0111102 - maturity-onset diabetes of the young type 3|DOID:9352 - type 2 diabetes mellitus|DOID:9744 - type 1 diabetes mellitus
484167	akt2	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
484285	tp53	DOID:1612 - breast cancer|DOID:3012 - Li-Fraumeni syndrome|DOID:3070 - malignant glioma|DOID:3347 - osteosarcoma|DOID:3948 - adrenocortical carcinoma|DOID:4905 - pancreatic carcinoma|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer|DOID:9261 - nasopharynx carcinoma
484347	ca2	DOID:0110941 - autosomal recessive osteopetrosis 3
484415	slc22a5	DOID:14365 - systemic primary carnitine deficiency disease
484465	fgf9	DOID:0050794 - multiple synostoses syndrome
484532	vegfc	DOID:0050580 - hereditary lymphedema
484552	sox2	DOID:10629 - microphthalmia
484626	mip	DOID:0110266 - cataract 9 multiple types
484635	gata1	DOID:14250 - Down syndrome|DOID:1588 - thrombocytopenia
484654	zeb1	DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110857 - posterior polymorphous corneal dystrophy 3
484662	prrx1	DOID:0060341 - agnathia-otocephaly complex
484685	smad9	DOID:14557 - primary pulmonary hypertension
484694	fshb	DOID:0090088 - hypogonadotropic hypogonadism 24 without anosmia
484854	gli3	DOID:1148 - polydactyly|DOID:14761 - Greig cephalopolysyndactyly syndrome|DOID:9248 - Pallister-Hall syndrome|DOID:9250 - acrocallosal syndrome
484952	akt1	DOID:13482 - Proteus syndrome|DOID:1612 - breast cancer|DOID:5419 - schizophrenia|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: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
485025	tfap2b	DOID:0060563 - Char syndrome
485043	fgf10	DOID:0050331 - LADD syndrome
485062	gata6	DOID:0050651 - atrioventricular septal defect|DOID:0110114 - atrial heart septal defect 9|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot
485092	nos2	DOID:10825 - essential hypertension
485100	nphs2	DOID:1184 - nephrotic syndrome
485116	lrp5	DOID:0050535 - exudative vitreoretinopathy|DOID:0060849 - osteoporosis-pseudoglioma syndrome|DOID:0080037 - Worth's syndrome|DOID:0110937 - autosomal dominant osteopetrosis 1|DOID:11476 - osteoporosis
485175	ret	DOID:0050430 - multiple endocrine neoplasia type 2A|DOID:0050547 - familial medullary thyroid carcinoma|DOID:0050771 - phaeochromocytoma|DOID:0060731 - congenital central hypoventilation syndrome|DOID:10016 - multiple endocrine neoplasia type 2B|DOID:14766 - renal agenesis
485219	otx2	DOID:10629 - microphthalmia
485251	sall4	DOID:0060747 - Duane-radial ray syndrome
485279	wnt1	DOID:0110347 - osteogenesis imperfecta type 15
485360	nr5a1	DOID:14227 - azoospermia|DOID:14448 - 46 XY gonadal dysgenesis|DOID:5426 - premature ovarian failure
485386	arhgef12	DOID:9119 - acute myeloid leukemia
485404	pax4	DOID:0111107 - maturity-onset diabetes of the young type 9|DOID:9352 - type 2 diabetes mellitus
485413	tshb	DOID:0070123 - congenital nongoitrous hypothryoidism 4
485440	pitx1	DOID:11836 - clubfoot
485486	eya4	DOID:0110440 - dilated cardiomyopathy 1J|DOID:0110542 - autosomal dominant nonsyndromic deafness 10
485544	dcn	DOID:0060445 - congenital stromal corneal dystrophy
485605	tgfbr2	DOID:0050466 - Loeys-Dietz syndrome|DOID:5041 - esophageal cancer
485615	bmpr1a	DOID:0050787 - juvenile polyposis syndrome|DOID:0060389 - chromosome 10q23 deletion syndrome|DOID:6457 - Cowden disease
485651	hnf1b	DOID:0050387 - nonpapillary renal cell carcinoma|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	smad4.1	DOID:0050787 - juvenile polyposis syndrome|DOID:4905 - pancreatic carcinoma
485743	vegfa	DOID:9352 - type 2 diabetes mellitus
485800	nr2e3	DOID:0090059 - enhanced S-cone syndrome|DOID:0110399 - retinitis pigmentosa 37
485815	sim1	DOID:9970 - obesity
485904	ins	DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0111099 - maturity-onset diabetes of the young type 1
485929	gata3	DOID:0060878 - hypoparathyroidism-deafness-renal disease syndrome
485945	tpm1	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:0110557 - autosomal dominant nonsyndromic deafness 28
486003	smad7	DOID:9256 - colorectal cancer
486032	lemd3	DOID:4253 - melorheostosis
486051	lrp2	DOID:0090144 - Donnai-Barrow syndrome
486112	lhb	DOID:0090091 - hypogonadotropic hypogonadism 23 with or without anosmia
486146	msr1	DOID:10283 - prostate cancer|DOID:9206 - Barrett's esophagus
486161	pitx3	DOID:0060605 - anterior segment mesenchymal dysgenesis|DOID:0110249 - cataract 11 multiple types
486239	slc26a3.2	DOID:0060296 - congenital secretory chloride diarrhea 1
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
486295	fst	DOID:11612 - polycystic ovary syndrome
486305	per2	DOID:0110011 - advanced sleep phase syndrome 1
486370	c5	DOID:8158 - complement component 5 deficiency
486400	mybpc1	DOID:0050646 - distal arthrogryposis
486461	slc2a2	DOID:9352 - type 2 diabetes mellitus
486481	hes7.2	DOID:0050568 - spondylocostal dysostosis
486504	vdr	DOID:10609 - rickets|DOID:11476 - osteoporosis
486548	slc6a2	DOID:0111154 - postural orthostatic tachycardia syndrome
486611	foxl2	DOID:14778 - blepharophimosis, ptosis, and epicanthus inversus syndrome|DOID:5426 - premature ovarian failure
486684	prkch	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:14766 - renal agenesis
486854	tbx5	DOID:0060468 - Holt-Oram syndrome
486940	prickle1	DOID:891 - progressive myoclonus epilepsy
486950	nkx2-6	DOID:6406 - double outlet right ventricle
486957	mef2c	DOID:0070050 - mental retardation, autosomal dominant 20
486986	tnni3	DOID:0110460 - dilated cardiomyopathy 2A|DOID:397 - restrictive cardiomyopathy
487058	pde6c	DOID:0050795 - cone dystrophy
487139	pax7	DOID:4051 - alveolar rhabdomyosarcoma
487199	ctnnb1	DOID:0050902 - medulloblastoma|DOID:5374 - pilomatrixoma|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
487209	mcph1	DOID:10907 - microcephaly
487269	syngap1	DOID:0070035 - autosomal dominant non-syndromic intellectual disability 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	slc9a3r1	DOID:0080078 - hypophosphatemic nephrolithiasis/osteoporosis 2
487370	snai2	DOID:0110952 - Waardenburg syndrome type 2D|DOID:3263 - piebaldism
487393	mef2a	DOID:3393 - coronary artery disease
487419	smo	DOID:2513 - basal cell carcinoma
487447	mif	DOID:676 - juvenile rheumatoid arthritis
487457	gata4	DOID:0110107 - atrial heart septal defect 2|DOID:6419 - tetralogy of Fallot
487535	nphp4.2	DOID:0050576 - Senior-Loken syndrome|DOID:0111115 - nephronophthisis 4
487562	slc11a2	DOID:0050642 - hypochromic microcytic anemia
487572	alas2	DOID:0060063 - X-linked sideroblastic anemia|DOID:13270 - erythropoietic protoporphyria
487582	pdgfb	DOID:0060230 - basal ganglia calcification
487609	nos1	DOID:12638 - hypertrophic pyloric stenosis
487692	ptgis	DOID:10825 - essential hypertension
487698	htra1	DOID:0110019 - age related macular degeneration 7
487723	nog	DOID:0050788 - proximal symphalangism|DOID:0050789 - tarsal-carpal coalition syndrome|DOID:0050794 - multiple synostoses syndrome|DOID:0110975 - brachydactyly type B2
487754	casp8	DOID:0110116 - autoimmune lymphoproliferative syndrome type 2B|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:684 - hepatocellular carcinoma
487810	nphs1	DOID:1184 - nephrotic syndrome
487872	nphp3	DOID:0060259 - renal-hepatic-pancreatic dysplasia|DOID:0111114 - nephronophthisis 3
487881	gh1	DOID:0060872 - isolated growth hormone deficiency type II|DOID:0060873 - isolated growth hormone deficiency type IA
487959	nr0b1	DOID:0080156 - X-linked adrenal hypoplasia congenita|DOID:14448 - 46 XY gonadal dysgenesis
487965	nkx2-5	DOID:0070125 - congenital nongoitrous hypothryoidism 5|DOID:0110112 - atrial heart septal defect 7|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot
487974	lfng	DOID:0050568 - spondylocostal dysostosis
488023	nf1	DOID:0050458 - juvenile myelomonocytic leukemia|DOID:8712 - neurofibromatosis
488038	shh	DOID:0110875 - holoprosencephaly 3|DOID:1148 - polydactyly|DOID:12270 - coloboma
488110	tgfb1	DOID:1485 - cystic fibrosis|DOID:4997 - Camurati-Engelmann disease
488148	ifng	DOID:12449 - aplastic anemia|DOID:13515 - tuberous sclerosis|DOID:635 - acquired immunodeficiency syndrome
488198	socs3	DOID:0110100 - atopic dermatitis 4
488216	anos1	DOID:0090094 - hypogonadotropic hypogonadism 1 with or without anosmia
488221	ptch1	DOID:0050902 - medulloblastoma|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:14330 - Parkinson's disease
488910	sh3tc2	DOID:0110183 - Charcot-Marie-Tooth disease type 4C
488943	zbtb24	DOID:0090009 - immunodeficiency-centromeric instability-facial anomalies syndrome 2
489121	actn2	DOID:0110428 - dilated cardiomyopathy 1AA
489194	tbce	DOID:0060348 - hypoparathyroidism-retardation-dysmorphism syndrome
489237	gjb3	DOID:0050467 - erythrokeratodermia variabilis|DOID:0110475 - autosomal recessive nonsyndromic deafness 1A|DOID:0110558 - autosomal dominant nonsyndromic deafness 2A
489335	prpf31	DOID:0110408 - retinitis pigmentosa 11
489396	jup	DOID:0110083 - arrhythmogenic right ventricular dysplasia 12
489534	gsn	DOID:0050637 - Finnish type amyloidosis
489657	lmnb1	DOID:0060785 - adult-onset autosomal dominant demyelinating leukodystrophy
489819	src	DOID:9256 - colorectal cancer
489851	rab18	DOID:0110718 - Warburg micro syndrome 3
489916	cxcr4	DOID:0060591 - WHIM syndrome
489981	itga6	DOID:0060733 - junctional epidermolysis bullosa with pyloric atresia
490007	cav1	DOID:0111137 - congenital generalized lipodystrophy type 3
490074	lhx3	DOID:9406 - hypopituitarism
490114	smpx	DOID:0050566 - X-linked nonsyndromic deafness
490142	atp8b1	DOID:1852 - intrahepatic cholestasis
490168	znf423	DOID:0111122 - nephronophthisis 14
490288	tapbp	DOID:0060009 - MHC class I deficiency
490368	krt17	DOID:0050449 - pachyonychia congenita
490377	msx1	DOID:0050567 - orofacial cleft|DOID:0050591 - tooth agenesis|DOID:6678 - tooth and nail syndrome
490480	gja5	DOID:0050650 - familial atrial fibrillation
490562	rab27a	DOID:0060833 - Griscelli syndrome type 2
490580	prokr2	DOID:0090092 - hypogonadotropic hypogonadism 3 with or without anosmia
490605	tubgcp6	DOID:0080105 - microcephaly and chorioretinopathy 1
490623	brca1	DOID:1612 - breast cancer
490632	gcnt2.2	DOID:0110243 - cataract 46 juvenile-onset
490651	palld.2	DOID:4905 - pancreatic carcinoma
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
490900	flrt3	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090093 - hypogonadotropic hypogonadism 21 with or without anosmia
490934	mak	DOID:0110380 - retinitis pigmentosa 62
490992	hnrnpa2b1	DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia
491048	tlr3	DOID:635 - acquired immunodeficiency syndrome
491065	igbp1	DOID:0060816 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
491113	dicer1	DOID:0050489 - multinodular goiter|DOID:4769 - pleuropulmonary blastoma
491120	tubb2b	DOID:0090132 - complex cortical dysplasia with other brain malformations 7
491161	osmr	DOID:0050639 - primary cutaneous amyloidosis
491265	tubg1	DOID:0090138 - complex cortical dysplasia with other brain malformations 4
491300	rab33b	DOID:0060247 - Smith-McCort dysplasia
491392	sall1	DOID:0050887 - Townes-Brocks syndrome
491432	pten	DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050787 - juvenile polyposis syndrome|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:3070 - malignant glioma|DOID:3962 - follicular thyroid carcinoma|DOID:5520 - head and neck squamous cell carcinoma|DOID:6457 - Cowden disease
491497	ror2	DOID:0060764 - autosomal recessive Robinow syndrome|DOID:0110969 - brachydactyly type B1
491597	ak2	DOID:0060020 - reticular dysgenesis
491607	yars	DOID:0110199 - Charcot-Marie-Tooth disease dominant intermediate C
491617	actg1	DOID:0110550 - autosomal dominant nonsyndromic deafness 20
491713	cntn1	DOID:0080101 - Compton-North congenital myopathy
491742	apbb2	DOID:10652 - Alzheimer's disease
491937	acta1	DOID:0080102 - congenital fiber-type disproportion|DOID:0110927 - nemaline myopathy 3
491964	lox	DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:3144 - cutis laxa
492034	bard1	DOID:1612 - breast cancer
492105	nefl	DOID:0110149 - Charcot-Marie-Tooth disease type 1F|DOID:0110165 - Charcot-Marie-Tooth disease type 2E
492155	gcm2	DOID:11199 - hypoparathyroidism
492194	dsp	DOID:0090128 - dilated cardiomyopathy with woolly hair and keratoderma|DOID:0110076 - arrhythmogenic right ventricular dysplasia 8
492212	ppp1r3a	DOID:0050440 - familial partial lipodystrophy|DOID:9352 - type 2 diabetes mellitus
492350	syne2	DOID:11726 - Emery-Dreifuss muscular dystrophy
492369	brip1	DOID:0111097 - Fanconi anemia complementation group J|DOID:1612 - breast cancer
492421	alox5ap	DOID:6713 - cerebrovascular disease
492449	triobp	DOID:0110486 - autosomal recessive nonsyndromic deafness 28
492458	mex3c	DOID:10825 - essential hypertension
492489	arid1a	DOID:0070044 - Coffin-Siris syndrome 2
492511	kit	DOID:2998 - testicular cancer|DOID:3263 - piebaldism|DOID:4440 - seminoma|DOID:5557 - testicular germ cell cancer|DOID:9119 - acute myeloid leukemia|DOID:9253 - gastrointestinal stromal tumor
492527	trpm1	DOID:0110867 - congenital stationary night blindness 1C
492608	myo15a	DOID:0110488 - autosomal recessive nonsyndromic deafness 3
492625	rab23	DOID:0060234 - Carpenter syndrome
492664	rax	DOID:0060842 - isolated microphthalmia 3|DOID:10629 - microphthalmia
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:5768 - Nager acrofacial dysostosis
492999	prok2	DOID:0090077 - hypogonadotropic hypogonadism 4 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
493023	vim	DOID:0110248 - cataract 30
493085	mxi1	DOID:10283 - prostate cancer
493095	kcnq3	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:10584 - retinitis pigmentosa
493229	gja8	DOID:0110231 - cataract 1 multiple types
493263	col1a2	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
493334	ttbk2	DOID:0050961 - spinocerebellar ataxia type 11
493350	nfkbil1	DOID:7148 - rheumatoid arthritis
493390	smarcal1	DOID:0060490 - Schimke immuno-osseous dysplasia
493421	fgd4	DOID:0110192 - Charcot-Marie-Tooth disease type 4H
493440	nr4a3	DOID:6496 - extraskeletal myxoid chondrosarcoma
493519	axin2	DOID:9256 - colorectal cancer
493578	flnc	DOID:0080096 - myofibrillar myopathy 5|DOID:11720 - distal muscular dystrophy
493597	smarcb1	DOID:0070045 - Coffin-Siris syndrome 3|DOID:2129 - atypical teratoid rhabdoid tumor|DOID:3204 - neurilemmomatosis
493678	cd36	DOID:0111046 - platelet-type bleeding disorder 10
493809	atm	DOID:12704 - ataxia telangiectasia|DOID:1612 - breast cancer
493856	prph	DOID:0060193 - amyotrophic lateral sclerosis type 1
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: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
493996	vhl	DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0050771 - phaeochromocytoma|DOID:0060474 - Chuvash polycythemia|DOID:14175 - von Hippel-Lindau disease
494027	ski	DOID:2340 - craniosynostosis
494059	myo7a	DOID:0110477 - autosomal recessive nonsyndromic deafness 2|DOID:0110543 - autosomal dominant nonsyndromic deafness 11|DOID:0110826 - Usher syndrome type 1
494124	foxi1	DOID:0050332 - enlarged vestibular aqueduct|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4
494160	gja3	DOID:0110253 - cataract 14 multiple types
494199	grin1	DOID:0070038 - autosomal dominant non-syndromic intellectual disability 8
494213	clcf1	DOID:0060294 - cold-induced sweating syndrome
494301	adrb2	DOID:9970 - obesity
494319	kptn	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
494338	actn4	DOID:0111128 - focal segmental glomerulosclerosis 1
494376	sall2	DOID:12270 - coloboma
494420	asah1	DOID:0050464 - Farber lipogranulomatosis
494464	tpi1	DOID:0050884 - triosephosphate isomerase deficiency
494473	ripk4	DOID:0060055 - popliteal pterygium syndrome
494482	rax2	DOID:0111018 - cone-rod dystrophy 11
494511	lrp4	DOID:0060757 - sclerosteosis 2|DOID:0090015 - Cenani-Lenz syndactyly syndrome
494528	alg2	DOID:0050570 - congenital disorder of glycosylation type I
494556	fbn2	DOID:0050646 - distal arthrogryposis
494583	mid1	DOID:0050780 - Opitz-GBBB syndrome
494641	flnb	DOID:0050648 - atelosteogenesis|DOID:0050680 - Boomerang dysplasia|DOID:0090116 - spondylocarpotarsal synostosis syndrome|DOID:14764 - Larsen syndrome
494656	clcn2	DOID:644 - leukoencephalopathy
494690	rassf1	DOID:1324 - lung cancer
494739	mecp2	DOID:0060799 - syndromic X-linked intellectual disability Lubs type|DOID:0060827 - X-linked intellectual disability-psychosis-macroorchidism syndrome|DOID:1206 - Rett syndrome|DOID:1932 - Angelman syndrome
494749	lmx1b.1	DOID:1067 - open-angle glaucoma|DOID:9467 - nail-patella syndrome
494826	fscn2	DOID:0110406 - retinitis pigmentosa 30
494835	sgce	DOID:0090034 - myoclonic dystonia 11
494930	des.1	DOID:0080092 - myofibrillar myopathy 1|DOID:0110431 - dilated cardiomyopathy 1I
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:3652 - Leigh disease|DOID:4252 - Alexander disease
495118	fus	DOID:0060198 - amyotrophic lateral sclerosis type 6|DOID:4990 - essential tremor
852665	amelx	DOID:0110058 - amelogenesis imperfecta type 1E
852728	gyg1	DOID:0050579 - glycogen storage disease XV
852770	sftpc	DOID:0050156 - idiopathic pulmonary fibrosis|DOID:12120 - pulmonary alveolar proteinosis
852782	ndp	DOID:0050535 - exudative vitreoretinopathy|DOID:0060844 - Norrie disease
852806	adnp	DOID:0070058 - Helsmoortel-Van Der Aa Syndrome
852842	dmd.2	DOID:0110461 - dilated cardiomyopathy 3B|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy
852873	dcc	DOID:5041 - esophageal cancer|DOID:9256 - colorectal cancer
852904	tusc3	DOID:0060308 - autosomal recessive non-syndromic intellectual disability|DOID:10283 - prostate cancer
852913	mmp20	DOID:0110057 - amelogenesis imperfecta type 2A1
852929	chn1	DOID:12557 - Duane retraction syndrome
852956	erf	DOID:2340 - craniosynostosis
852973	msx2	DOID:0060285 - parietal foramina|DOID:2340 - craniosynostosis
853002	alx4	DOID:0060285 - parietal foramina
853010	grip1	DOID:0090001 - Fraser syndrome
853020	tgif1	DOID:0110698 - hypotrichosis 1|DOID:0110880 - holoprosencephaly 4
853056	dlx5	DOID:0090024 - split hand-foot malformation 1 with sensorineural hearing loss
853081	aurka	DOID:9256 - colorectal cancer
853107	en2	DOID:12849 - autistic disorder
853165	vsx1	DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1|DOID:10126 - keratoconus
853212	apoe	DOID:0110014 - age related macular degeneration 1|DOID:0110035 - Alzheimer's disease 2|DOID:0110040 - Alzheimer's disease 4|DOID:4423 - sea-blue histiocyte syndrome
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
853608	spag1	DOID:0110607 - primary ciliary dyskinesia 28
853640	pou4f3	DOID:0110546 - autosomal dominant nonsyndromic deafness 15
853647	foxj1	DOID:4481 - allergic rhinitis
853686	slc17a5	DOID:3659 - sialuria
853730	zfhx3	DOID:10283 - prostate cancer
853774	vsx2	DOID:0060839 - isolated microphthalmia 2|DOID:10629 - microphthalmia
853792	prom1	DOID:0110376 - retinitis pigmentosa 41
853856	phox2a	DOID:0080143 - congenital fibrosis of the extraocular muscles
853922	etv6	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:1485 - cystic fibrosis
854021	hps3	DOID:0060539 - Hermansky-Pudlak syndrome 1
854096	pou1f1	DOID:9406 - hypopituitarism
854192	ovol2	DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1
854456	chrnb2	DOID:0060684 - autosomal dominant nocturnal frontal lobe epilepsy 3
854472	adar	DOID:0060257 - dyschromatosis symmetrica hereditaria
854494	pkhd1	DOID:0110861 - autosomal recessive polycystic kidney disease
854542	dnah5	DOID:0110599 - primary ciliary dyskinesia 3
854549	dync1h1	DOID:0070043 - autosomal dominant non-syndromic intellectual disability 13|DOID:0110175 - Charcot-Marie-Tooth disease axonal type 2O
854591	hps6	DOID:0060539 - Hermansky-Pudlak syndrome 1
854650	psenen	DOID:2280 - hidradenitis suppurativa
854693	dnai2	DOID:0110622 - primary ciliary dyskinesia 9
854776	prdm5	DOID:14775 - brittle cornea syndrome
854835	fam126a	DOID:0060793 - hypomyelinating leukodystrophy 5
854876	psen2	DOID:0110040 - Alzheimer's disease 4
854909	palld	DOID:4905 - pancreatic carcinoma
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	slc26a3.1	DOID:0060296 - congenital secretory chloride diarrhea 1
855724	kmt2d	DOID:0060473 - Kabuki syndrome
855929	acads	DOID:0080154 - short chain acyl-CoA dehydrogenase deficiency
855963	ppib	DOID:0110349 - osteogenesis imperfecta type 9
856480	prkar1a	DOID:0050471 - Carney complex|DOID:0060280 - primary pigmented nodular adrenocortical disease|DOID:3969 - papillary thyroid carcinoma
862913	ctcf	DOID:0070051 - autosomal dominant non-syndromic intellectual disability 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
868376	nanos1	DOID:14227 - azoospermia
868442	plag1	DOID:452 - pleomorphic adenoma
868498	diaph3	DOID:0060690 - autosomal dominant auditory neuropathy 1
876245	krt61	DOID:0060256 - Dowling-Degos disease|DOID:4644 - epidermolysis bullosa simplex
876278	neurog3	DOID:0060779 - congenital malabsorptive diarrhea 4
876285	krt59	DOID:0060256 - Dowling-Degos disease|DOID:4644 - epidermolysis bullosa simplex
876409	irf6	DOID:0060055 - popliteal pterygium syndrome|DOID:0060239 - Van der Woude syndrome
876464	hes7.1	DOID:0050568 - spondylocostal dysostosis
876550	prkcg	DOID:0050964 - spinocerebellar ataxia type 14
876589	krt78.7	DOID:0060256 - Dowling-Degos disease|DOID:4644 - epidermolysis bullosa simplex
876601	gja1	DOID:0050467 - erythrokeratodermia variabilis|DOID:0050651 - atrioventricular septal defect|DOID:0060291 - oculodentodigital dysplasia|DOID:11193 - syndactyly|DOID:9955 - hypoplastic left heart syndrome
876680	cyp21a2.2	DOID:0050811 - congenital adrenal hyperplasia
876697	tgfbr2.2	DOID:0050466 - Loeys-Dietz syndrome|DOID:5041 - esophageal cancer
876705	smad6.2	DOID:1712 - aortic valve stenosis
876858	kank1	DOID:10970 - spastic quadriplegia
876868	krt7	DOID:0060256 - Dowling-Degos disease|DOID:4644 - epidermolysis bullosa simplex
876885	krt78.8	DOID:0060256 - Dowling-Degos disease|DOID:4644 - epidermolysis bullosa simplex
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
877014	serpinf2	DOID:0060601 - alpha-2-plasmin inhibitor deficiency
877063	tmie	DOID:0110512 - autosomal recessive nonsyndromic deafness 6
877076	erbb4	DOID:0060210 - amyotrophic lateral sclerosis type 19
877229	chd7	DOID:0050834 - CHARGE syndrome|DOID:0060250 - idiopathic scoliosis|DOID:0090084 - hypogonadotropic hypogonadism 5 with or without anosmia
877243	fastkd2	DOID:3762 - cytochrome-c oxidase deficiency disease
877287	aspm	DOID:10907 - microcephaly
877326	epb41l1	DOID:0070041 - autosomal dominant non-syndromic intellectual disability 11
919589	cnbp	DOID:0050759 - myotonic dystrophy type 2
919654	krt78.2	DOID:0060256 - Dowling-Degos disease|DOID:4644 - epidermolysis bullosa simplex
919737	foxj1.2	DOID:4481 - allergic rhinitis
919796	grhl3	DOID:0060239 - Van der Woude syndrome
919852	cxcl12	DOID:635 - acquired immunodeficiency syndrome
919964	des.2	DOID:0080092 - myofibrillar myopathy 1|DOID:0110431 - dilated cardiomyopathy 1I
920012	wdr19	DOID:0080033 - craniometaphyseal dysplasia|DOID:0110089 - asphyxiating thoracic dystrophy 5
920040	lmx1b.2	DOID:1067 - open-angle glaucoma|DOID:9467 - nail-patella syndrome
920067	nefh	DOID:0060193 - amyotrophic lateral sclerosis type 1
920171	ccbe1	DOID:0060366 - Hennekam syndrome
920189	atxn2	DOID:0050955 - spinocerebellar ataxia type 2|DOID:14330 - Parkinson's disease
920235	fgf23.1	DOID:0050948 - autosomal dominant hypophosphatemic rickets|DOID:0111063 - hyperphosphatemic familial tumoral calcinosis
920287	vim.2	DOID:0110248 - cataract 30
920361	dhcr7	DOID:14692 - Smith-Lemli-Opitz syndrome
920446	pla2g6	DOID:0110735 - neurodegeneration with brain iron accumulation 2a|DOID:0110736 - neurodegeneration with brain iron accumulation 2b
920458	krt62	DOID:0060256 - Dowling-Degos disease|DOID:4644 - epidermolysis bullosa simplex
920721	lmna	DOID:0050440 - familial partial lipodystrophy|DOID:0060762 - lethal restrictive dermopathy|DOID:0110156 - Charcot-Marie-Tooth disease type 2B1|DOID:0110301 - autosomal dominant limb-girdle muscular dystrophy type 1B|DOID:0110425 - dilated cardiomyopathy 1A|DOID:11726 - Emery-Dreifuss muscular dystrophy|DOID:3911 - progeria|DOID:5688 - Werner syndrome
920732	insr	DOID:0050470 - Donohue syndrome|DOID:13317 - hyperinsulinemic hypoglycemia
920751	shox	DOID:0060847 - Leri-Weill dyschondrosteosis
920764	itpr1	DOID:0050965 - spinocerebellar ataxia type 15
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:0110529 - autosomal recessive nonsyndromic deafness 84A
921509	scn4b	DOID:0110651 - long QT syndrome 10
921597	amt	DOID:9268 - glycine encephalopathy
921634	gnao1	DOID:0050709 - Ohtahara syndrome
921738	scn2b	DOID:0050650 - familial atrial fibrillation
921759	aipl1	DOID:0110332 - Leber congenital amaurosis 4|DOID:10584 - retinitis pigmentosa
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
922049	ccdc103	DOID:0110621 - primary ciliary dyskinesia 17
922240	slc37a4	DOID:2749 - glycogen storage disease I
922280	trem2	DOID:0090112 - Nasu-Hakola disease
922295	kirrel3	DOID:0070034 - autosomal dominant non-syndromic intellectual disability 4
922380	ldb3	DOID:0080095 - myofibrillar myopathy 4
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
922495	cd79a	DOID:2583 - agammaglobulinemia
922618	als2	DOID:0060194 - amyotrophic lateral sclerosis type 2
922649	gmppb	DOID:0050588 - muscular dystrophy-dystroglycanopathy|DOID:0110294 - autosomal recessive limb-girdle muscular dystrophy type 2T
922836	cdon	DOID:0110877 - holoprosencephaly 11
922898	lrig2	DOID:0050816 - urofacial syndrome
922951	sema3e	DOID:0050834 - CHARGE syndrome|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
922975	hjv	DOID:0111027 - hemochromatosis type 2A
923000	ntrk1	DOID:0050547 - familial medullary thyroid carcinoma|DOID:0070146 - hereditary sensory neuropathy type 4
923006	musk	DOID:0110679 - congenital myasthenic syndrome 4C
923069	ppt1	DOID:0110721 - neuronal ceroid lipofuscinosis 1
923105	elac2	DOID:10283 - prostate cancer
923292	mylk	DOID:14004 - thoracic aortic aneurysm
939788	abhd5	DOID:0050729 - neutral lipid storage disease
940129	hcn4	DOID:13884 - sick sinus syndrome
940168	kcnv2	DOID:0050795 - cone dystrophy
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
940479	ctsc	DOID:1474 - aggressive periodontitis|DOID:3389 - Papillon-Lefevre disease
940503	arl6	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:10584 - retinitis pigmentosa
940619	evc2	DOID:12714 - Ellis-Van Creveld syndrome
940646	chrm3	DOID:0060889 - prune belly syndrome
940693	sco2	DOID:0050713 - fatal infantile encephalocardiomyopathy
940701	reep1	DOID:0110782 - hereditary spastic paraplegia 31
940705	prkra	DOID:0090048 - dystonia 16
940770	agpat2	DOID:0111135 - congenital generalized lipodystrophy type 1
941151	vps35	DOID:0060897 - Parkinson disease 17
941285	snap29	DOID:0060337 - CEDNIK syndrome
941394	hps4	DOID:0060539 - Hermansky-Pudlak syndrome 1
941625	f9	DOID:12259 - hemophilia B
941636	opa3	DOID:0110004 - 3-methylglutaconic aciduria type 3|DOID:5723 - optic atrophy
941643	rtn2	DOID:0110765 - hereditary spastic paraplegia 12
941706	tpmt	DOID:0080172 - thiopurine S-methyltransferase deficiency
941759	tnfrsf10b	DOID:5520 - head and neck squamous cell carcinoma
941773	tspan7	DOID:0050776 - non-syndromic X-linked intellectual disability
941797	ap4s1	DOID:0110804 - hereditary spastic paraplegia 52
941817	c15orf41	DOID:1338 - congenital dyserythropoietic anemia
941864	chmp4b	DOID:0110265 - cataract 31 multiple types
941922	apoa5	DOID:1171 - hyperlipoproteinemia type V|DOID:1172 - hyperlipoproteinemia type IV
942222	spata7	DOID:0110331 - Leber congenital amaurosis 3
942248	hpgd	DOID:14283 - primary hypertrophic osteoarthropathy
942342	snx10	DOID:0110940 - autosomal recessive osteopetrosis 8
942373	mplkip	DOID:0050528 - nonphotosensitive trichothiodystrophy
942458	trim2	DOID:0110161 - Charcot-Marie-Tooth disease type 2R
942526	cyp27b1	DOID:10609 - rickets
942661	aldh3a2	DOID:14501 - Sjogren-Larsson syndrome
942770	rgs4	DOID:0070085 - schizophrenia 9
942831	ncf4	DOID:3265 - chronic granulomatous disease
942885	myoz2	DOID:0110322 - hypertrophic cardiomyopathy 16
942993	irf1	DOID:0090016 - chromosome 5q deletion syndrome|DOID:10534 - stomach cancer|DOID:1324 - lung cancer
943035	nbn	DOID:12449 - aplastic anemia|DOID:7400 - Nijmegen breakage syndrome
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
943386	arl2bp	DOID:0110419 - retinitis pigmentosa with or without situs inversus
943467	kars	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:0110312 - hypertrophic cardiomyopathy 6|DOID:384 - Wolff-Parkinson-White syndrome
943657	optn	DOID:1070 - primary open angle glaucoma
943668	phyh	DOID:10582 - Refsum disease
943860	syp	DOID:0050776 - non-syndromic X-linked intellectual disability
944057	gpi	DOID:2861 - congenital nonspherocytic hemolytic anemia
944208	sar1b	DOID:0060357 - chylomicron retention disease
944391	afg3l2	DOID:0050944 - spastic ataxia 5|DOID:0050977 - spinocerebellar ataxia type 28
944425	gfi1b	DOID:0111049 - platelet-type bleeding disorder 17
944434	pomt1	DOID:0050560 - Walker-Warburg syndrome|DOID:0110297 - autosomal recessive limb-girdle muscular dystrophy type 2K
944548	lyrm4	DOID:0060286 - combined oxidative phosphorylation deficiency
944559	fars2	DOID:0060286 - combined oxidative phosphorylation deficiency
944566	atp5f1a	DOID:0060333 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4
944682	tdrd7	DOID:0110247 - cataract 36
944761	cog6	DOID:0050571 - congenital disorder of glycosylation type II
944849	hk1	DOID:0110196 - Charcot-Marie-Tooth disease type 4G
944904	rp9	DOID:0110387 - retinitis pigmentosa 9
944986	pcca	DOID:14701 - propionic acidemia
945025	serpinf1	DOID:0110350 - osteogenesis imperfecta type 6
945062	pdss2	DOID:0050730 - coenzyme Q10 deficiency disease
945083	entpd1	DOID:0110815 - hereditary spastic paraplegia 64
945142	stxbp1	DOID:0050709 - Ohtahara syndrome|DOID:2481 - infantile epileptic encephalopathy
945241	cd82	DOID:10283 - prostate cancer
945366	pde6g	DOID:0110407 - retinitis pigmentosa 57|DOID:10584 - retinitis pigmentosa
945378	edar	DOID:14793 - hypohidrotic ectodermal dysplasia
945387	adam10	DOID:0110050 - Alzheimer's disease 18
945434	mrpl3	DOID:0060286 - combined oxidative phosphorylation deficiency
945642	hspb8	DOID:0110174 - Charcot-Marie-Tooth disease axonal type 2L
945668	atl1	DOID:0110791 - hereditary spastic paraplegia 3A
945800	gnptg	DOID:0080071 - pseudo-Hurler polydystrophy
945839	rnaseh2a	DOID:0050629 - Aicardi-Goutieres syndrome
945876	ndufs8	DOID:3652 - Leigh disease
945925	coq6	DOID:0050730 - coenzyme Q10 deficiency disease
945970	hla-drb1	DOID:7148 - rheumatoid arthritis
946115	coq8a	DOID:0050730 - coenzyme Q10 deficiency disease
946142	sptlc2	DOID:0070157 - hereditary sensory and autonomic neuropathy type 1C
946219	cd81	DOID:12177 - common variable immunodeficiency
946365	blnk	DOID:2583 - agammaglobulinemia
946379	ppp2r2b	DOID:0050962 - spinocerebellar ataxia type 12
946426	lrpap1	DOID:11830 - myopia
946569	myl3	DOID:0110314 - hypertrophic cardiomyopathy 8
946666	lrrc6	DOID:0110608 - primary ciliary dyskinesia 19
947108	ppp1r17	DOID:13810 - familial hypercholesterolemia
947113	aip	DOID:5394 - prolactinoma|DOID:6255 - growth hormone secreting pituitary adenoma|DOID:7004 - ACTH-secreting pituitary adenoma
947166	akr1d1	DOID:0111069 - congenital bile acid synthesis defect 2
947315	gc	DOID:12361 - Graves' disease|DOID:7997 - thyrotoxicosis
947328	spint2	DOID:0060781 - congenital secretory sodium diarrhea 3
947418	ndufs4	DOID:0060536 - mitochondrial complex I deficiency|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:0110925 - familial hemophagocytic lymphohistiocytosis 5
947684	slc45a2	DOID:0050632 - oculocutaneous albinism|DOID:0070098 - oculocutaneous albinism type IV
947773	gnas	DOID:0080053 - Albright's hereditary osteodystrophy|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
947968	stim1	DOID:0080089 - tubular aggregate myopathy
948021	scarb2	DOID:891 - progressive myoclonus epilepsy
948071	tkt	DOID:10915 - Wernicke-Korsakoff syndrome
948145	ndufa2	DOID:3652 - Leigh disease
948282	bsnd	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
948492	urod	DOID:3132 - porphyria cutanea tarda
948526	pgm1	DOID:0050570 - congenital disorder of glycosylation type I
948556	ube3a	DOID:1932 - Angelman syndrome
948567	cnga3	DOID:0110007 - achromatopsia 2
948574	bcl10	DOID:0060060 - non-Hodgkin lymphoma|DOID:1790 - malignant mesothelioma|DOID:2998 - testicular cancer|DOID:4440 - seminoma|DOID:5557 - testicular germ cell cancer
948669	usb1	DOID:0060551 - poikiloderma with neutropenia
948679	coq9	DOID:0050730 - coenzyme Q10 deficiency disease
948742	sncaip	DOID:14330 - Parkinson's disease
948819	chmp2b	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
948946	comt	DOID:5419 - schizophrenia|DOID:594 - panic disorder
949108	scnn1b	DOID:0050477 - Liddle syndrome|DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1
949135	ndufa10	DOID:3652 - Leigh disease
949305	ap4b1	DOID:0110799 - hereditary spastic paraplegia 47
949326	grin2b	DOID:0070036 - autosomal dominant non-syndromic intellectual disability 6
949344	cdc73	DOID:13543 - hyperparathyroidism|DOID:1540 - parathyroid carcinoma
949373	grm6	DOID:0110865 - congenital stationary night blindness 1B
949398	xylt1	DOID:2738 - pseudoxanthoma elasticum
949441	plin1	DOID:0050440 - familial partial lipodystrophy
949448	strc	DOID:0110471 - autosomal recessive nonsyndromic deafness 16|DOID:14227 - azoospermia
949451	sstr5	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
949772	arhgef6	DOID:0050776 - non-syndromic X-linked intellectual disability
949791	ercc2	DOID:0110845 - xeroderma pigmentosum group D|DOID:2960 - photosensitive trichothiodystrophy
949800	dmpk	DOID:11722 - myotonic dystrophy type 1
949923	nyx	DOID:0110870 - congenital stationary night blindness 1A
950016	ahcy	DOID:0111039 - hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
950077	ppp2r1b	DOID:1324 - lung cancer
950143	erlin2	DOID:0110771 - hereditary spastic paraplegia 18
950176	atp2b2	DOID:0110467 - autosomal recessive nonsyndromic deafness 12
950278	klhdc8b	DOID:8567 - Hodgkin's lymphoma
950296	cpox	DOID:13269 - hereditary coproporphyria
950362	cog5	DOID:0050571 - congenital disorder of glycosylation type II
950379	slc26a4.3	DOID:0050332 - enlarged vestibular aqueduct|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:5810 - adenosine deaminase deficiency
950567	tdp1	DOID:0090115 - spinocerebellar ataxia type 1 with axonal neuropathy
950678	mlf1	DOID:9119 - acute myeloid leukemia
950695	gmps	DOID:9119 - acute myeloid leukemia
950719	dnah11	DOID:0110605 - primary ciliary dyskinesia 7
950754	chd2	DOID:0060475 - childhood onset epileptic encephalopathy
950761	agbl1	DOID:11555 - Fuchs' endothelial dystrophy
950816	sag	DOID:0110712 - Oguchi disease-1
950908	adcy1	DOID:0110501 - autosomal recessive nonsyndromic deafness 44
950953	cnga1	DOID:0110377 - retinitis pigmentosa 49|DOID:10584 - retinitis pigmentosa
951019	lrba	DOID:12177 - common variable immunodeficiency
951075	cdkl5	DOID:0050709 - Ohtahara syndrome|DOID:1206 - Rett syndrome
951277	hccs	DOID:10629 - microphthalmia
951362	por	DOID:0050462 - Antley-Bixler syndrome
951459	cyp1b1	DOID:0060673 - Peters anomaly|DOID:1067 - open-angle glaucoma|DOID:1070 - primary open angle glaucoma|DOID:11211 - buphthalmos
951522	pnkd	DOID:0090049 - paroxysmal nonkinesigenic dyskinesia 1
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
951754	kif2a	DOID:0090134 - complex cortical dysplasia with other brain malformations 3
951822	egf	DOID:0060882 - renal hypomagnesemia 4
952013	stx11	DOID:0110924 - familial hemophagocytic lymphohistiocytosis 4
952038	kcnk9	DOID:0050675 - Birk-Barel syndrome
952068	slc39a5	DOID:11830 - myopia
952106	bbs4	DOID:0110123 - Bardet-Biedl syndrome 1
952134	calcr	DOID:11476 - osteoporosis
952209	gucy2c	DOID:0060780 - congenital diarrhea 6
952295	bank1	DOID:9074 - systemic lupus erythematosus
952371	taf1	DOID:0090057 - X-linked dystonia-parkinsonism
952430	plcg2	DOID:0090064 - familial cold autoinflammatory syndrome 3
952498	dpagt1	DOID:0050570 - congenital disorder of glycosylation type I
952505	colec11	DOID:0060225 - 3MC syndrome|DOID:0060576 - 3MC syndrome 2
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:0060010 - Omenn syndrome|DOID:0090012 - severe combined immunodeficiency with sensitivity to ionizing radiation
952813	prnp	DOID:0050433 - fatal familial insomnia|DOID:0090103 - Huntington disease-like 1|DOID:11949 - Creutzfeldt-Jakob disease|DOID:4249 - Gerstmann-Straussler-Scheinker syndrome
952838	cep83	DOID:0111125 - nephronophthisis 18
952865	pc.1	DOID:3651 - pyruvate carboxylase deficiency disease
952912	nrxn1	DOID:12849 - autistic disorder
952971	minpp1	DOID:3962 - follicular thyroid carcinoma
953026	wdr34	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
953407	grhpr.1	DOID:2977 - primary hyperoxaluria
953533	sms	DOID:0050888 - syndromic intellectual disability|DOID:0060802 - syndromic X-linked intellectual disability Snyder type
953675	ca8	DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome
953692	ttpa	DOID:0090028 - familial isolated deficiency of vitamin E
953768	elovl4	DOID:0050817 - Stargardt disease
953784	bckdhb	DOID:9269 - maple syrup urine disease
953834	abcb1	DOID:0110893 - inflammatory bowel disease 13
953844	hs6st1	DOID:0090075 - hypogonadotropic hypogonadism 15 with or without anosmia
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:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
954189	fbn1	DOID:0050475 - Weill-Marchesani syndrome|DOID:0111150 - autosomal dominant isolated ectopia lentis 1|DOID:14323 - Marfan syndrome|DOID:2340 - craniosynostosis
954250	nin	DOID:0070011 - Seckel syndrome 7
954260	ldlrap1	DOID:0090105 - autosomal recessive hypercholesterolemia
954284	zmpste24	DOID:0060762 - lethal restrictive dermopathy
954329	sp7	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
954595	bbs9	DOID:0110123 - Bardet-Biedl syndrome 1
954607	cox10	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
954818	crygc	DOID:0110235 - cataract 2 multiple types
954849	lrmda	DOID:0070100 - oculocutaneous albinism type VII
954871	foxn1	DOID:0060769 - T-cell immunodeficiency, congenital alopecia, and nail dystrophy
954917	lgi1	DOID:0060748 - familial temporal lobe epilepsy 1|DOID:3070 - malignant glioma
954957	pex3	DOID:905 - Zellweger syndrome
955008	opn1lw	DOID:0050679 - blue cone monochromacy|DOID:13910 - red color blindness
955027	emd	DOID:11726 - Emery-Dreifuss muscular dystrophy
955040	picalm.1	DOID:9119 - acute myeloid leukemia
955076	ncstn	DOID:2280 - hidradenitis suppurativa
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
955413	plod1	DOID:13359 - Ehlers-Danlos syndrome
955440	scn3b	DOID:0110224 - Brugada syndrome 7
955477	cog8	DOID:0050571 - congenital disorder of glycosylation type II
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
955640	myot	DOID:0080091 - spheroid body myopathy|DOID:0080094 - myofibrillar myopathy 3|DOID:0110300 - autosomal dominant limb-girdle muscular dystrophy type 1A
955753	ano10	DOID:0050999 - autosomal recessive spinocerebellar ataxia 10
955797	gjb2	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:10003 - sensorineural hearing loss
956060	gcsh	DOID:9268 - glycine encephalopathy
956080	kcnk3	DOID:14557 - primary pulmonary hypertension
956097	etfb	DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency
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 - early-onset Parkinson disease 20
956381	znf711	DOID:0050776 - non-syndromic X-linked intellectual disability
956388	chm	DOID:9821 - choroideremia
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
956630	bscl2	DOID:0110770 - hereditary spastic paraplegia 17|DOID:0111136 - congenital generalized lipodystrophy type 2
956712	gnb3	DOID:10825 - essential hypertension
956766	coq8b	DOID:1184 - nephrotic syndrome
956773	cyp2a6.13	DOID:1324 - lung cancer
956799	xdh	DOID:0060236 - xanthinuria
956857	klf11	DOID:0111106 - maturity-onset diabetes of the young type 7
956941	sdha	DOID:0060537 - mitochondrial complex II deficiency|DOID:3652 - Leigh disease
957006	cubn	DOID:13382 - megaloblastic anemia
957162	emp2	DOID:1184 - nephrotic syndrome
957261	lins1	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
957266	cers3	DOID:0060718 - autosomal recessive congenital ichthyosis 9
957296	ush2a	DOID:0110838 - Usher syndrome type 2A|DOID:10584 - retinitis pigmentosa
957339	ccdc28b	DOID:0110123 - Bardet-Biedl syndrome 1
957444	pth1r	DOID:0060387 - chondrodysplasia Blomstrand type|DOID:4624 - Ollier disease
957447	impdh1	DOID:0110388 - retinitis pigmentosa 10
957493	abat	DOID:0060174 - GABA aminotransferase deficiency
957582	smc3	DOID:11725 - Cornelia de Lange syndrome
957612	cdh23	DOID:0110467 - autosomal recessive nonsyndromic deafness 12|DOID:0110831 - Usher syndrome type 1D
957672	zfhx4	DOID:0060261 - congenital ptosis
957683	g6pd	DOID:2861 - congenital nonspherocytic hemolytic anemia
957702	huwe1	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:2977 - primary hyperoxaluria
958126	slc30a8	DOID:9352 - type 2 diabetes mellitus
958178	trpm6	DOID:0060883 - intestinal hypomagnesemia 1
958328	tph2	DOID:1595 - endogenous depression
958407	kcnc3	DOID:0050963 - spinocerebellar ataxia type 13
958441	aimp1	DOID:0060790 - hypomyelinating leukodystrophy 3
958504	map3k8	DOID:1324 - lung cancer
958511	mtpap	DOID:0050943 - spastic ataxia 4
958590	pcm1	DOID:3969 - papillary thyroid carcinoma
958697	man2b1	DOID:3413 - alpha-mannosidosis
958955	emg1	DOID:0050684 - Bowen-Conradi syndrome
959027	neu1	DOID:3343 - glycoproteinosis
959053	pthlh	DOID:0110976 - brachydactyly type E2
959236	syn2	DOID:5419 - schizophrenia
959256	dnm2	DOID:0110197 - Charcot-Marie-Tooth disease dominant intermediate B|DOID:14717 - centronuclear myopathy
959402	pnpla6	DOID:0110790 - hereditary spastic paraplegia 39
959414	cyba	DOID:3265 - chronic granulomatous disease
959494	dbh	DOID:0090145 - dopamine beta-hydroxylase deficiency|DOID:14330 - Parkinson's disease
959497	yars2	DOID:0080099 - myopathy, lactic acidosis, and sideroblastic anemia
959528	dnmt3a	DOID:9119 - acute myeloid leukemia
959677	atxn10	DOID:0050960 - spinocerebellar ataxia type 10
959855	pomgnt1	DOID:0050560 - Walker-Warburg syndrome
959866	sf3b1	DOID:0050908 - myelodysplastic syndrome
959880	pms1	DOID:3883 - Lynch syndrome
960068	cln5	DOID:0110728 - neuronal ceroid lipofuscinosis 5
960118	ung	DOID:0060759 - immunodeficiency with hyper IgM type 5
960249	rpl15	DOID:1339 - Diamond-Blackfan anemia
960266	tmem127	DOID:0050771 - phaeochromocytoma
960285	gnrh1	DOID:0090072 - hypogonadotropic hypogonadism 12 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
960310	lzts1	DOID:5041 - esophageal cancer
960315	kdm6a	DOID:0060473 - Kabuki syndrome
960364	ing1	DOID:5520 - head and neck squamous cell carcinoma
960379	ercc5	DOID:0110849 - xeroderma pigmentosum group G
960469	kif1a	DOID:0070039 - autosomal dominant non-syndromic intellectual disability 9|DOID:0070147 - hereditary sensory neuropathy type 2C|DOID:0110781 - hereditary spastic paraplegia 30
960490	hsd11b1	DOID:0090141 - cortisone reductase deficiency 1
960508	rp1l1	DOID:0050578 - occult macular dystrophy
960552	gfi1	DOID:0050590 - severe congenital neutropenia
960555	tfg	DOID:6496 - extraskeletal myxoid chondrosarcoma
960581	espn	DOID:0110494 - autosomal recessive nonsyndromic deafness 36
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
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:0050811 - congenital adrenal hyperplasia
960793	agps	DOID:0110853 - rhizomelic chondrodysplasia punctata type 3
960802	wipf1	DOID:9169 - Wiskott-Aldrich syndrome
960841	trpm4	DOID:0111076 - progressive familial heart block type IB
960884	chst6	DOID:2565 - macular corneal dystrophy
960956	atp6v0a2	DOID:0070134 - autosomal recessive cutis laxa type IIA|DOID:3144 - cutis laxa
960984	cpa6	DOID:0060752 - familial temporal lobe epilepsy 5
960991	srp54	DOID:0060479 - Shwachman-Diamond syndrome
961018	pde6b	DOID:0110863 - congenital stationary night blindness autosomal dominant 2
961069	zmynd10	DOID:0110597 - primary ciliary dyskinesia 22
961196	col8a2	DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1|DOID:11555 - Fuchs' endothelial dystrophy
961230	ndufs1	DOID:0060536 - mitochondrial complex I deficiency
961346	reep2	DOID:0110817 - hereditary spastic paraplegia 72
961356	ddhd1	DOID:0110779 - hereditary spastic paraplegia 28
961364	gch1	DOID:0090043 - dystonia 5
961408	rp2	DOID:0110415 - retinitis pigmentosa 2
961418	nipa1	DOID:0110811 - hereditary spastic paraplegia 6
961433	eif2b3	DOID:0060868 - leukoencephalopathy with vanishing white matter
961512	fbxl4	DOID:0080131 - mitochondrial DNA depletion syndrome 13
961540	gk	DOID:0060363 - glycerol kinase deficiency
961571	bfsp2	DOID:0110239 - cataract 12 multiple types|DOID:0110266 - cataract 9 multiple types
961628	cplane1	DOID:0110980 - Joubert syndrome 1|DOID:0110986 - Joubert syndrome 17
961648	tmem43	DOID:0110074 - arrhythmogenic right ventricular dysplasia 5
961681	vps45	DOID:0050590 - severe congenital neutropenia
961722	adamts10	DOID:0050475 - Weill-Marchesani syndrome
961763	pak3	DOID:0050776 - non-syndromic X-linked intellectual disability
961824	itga8	DOID:14766 - renal agenesis
961882	chsy1	DOID:0050814 - temtamy preaxial brachydactyly syndrome
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
962319	kcne1	DOID:2842 - Jervell-Lange Nielsen syndrome
962359	cacnb2	DOID:0110221 - Brugada syndrome 4
962371	ldlr	DOID:13810 - familial hypercholesterolemia
962405	rom1	DOID:0110383 - retinitis pigmentosa 7|DOID:10584 - retinitis pigmentosa
962455	lamp2	DOID:0050437 - Danon disease
962568	snta1	DOID:0110653 - long QT syndrome 12
962590	apoa1	DOID:0050636 - familial visceral amyloidosis
962622	nsun2	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
962677	mcm6.2	DOID:10604 - lactose intolerance
962773	nek2	DOID:0110359 - retinitis pigmentosa 67
962825	orai1	DOID:0080089 - tubular aggregate myopathy
962904	cav3.1	DOID:0060255 - rippling muscle disease 2|DOID:0110302 - autosomal dominant limb-girdle muscular dystrophy type 1C|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110650 - long QT syndrome 9
962999	auh	DOID:0110002 - 3-methylglutaconic aciduria type 1
963049	ndufv2	DOID:0060536 - mitochondrial complex I deficiency|DOID:14330 - Parkinson's disease
963067	acaa1	DOID:0090031 - D-bifunctional protein deficiency
963078	gars	DOID:0110164 - Charcot-Marie-Tooth disease type 2D
963272	ubiad1	DOID:0060456 - Schnyder corneal dystrophy
963354	tbc1d20.1	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	aars	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
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
963756	neurod1	DOID:9352 - type 2 diabetes mellitus
963772	ucp1	DOID:9970 - obesity
963935	abcg5	DOID:0090019 - sitosterolemia
963940	ngly1	DOID:0060728 - NGLY1-deficiency
964256	fhl1	DOID:0060253 - scapuloperoneal myopathy|DOID:0080090 - reducing body myopathy|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
964300	atp6ap2	DOID:0060806 - syndromic X-linked intellectual disability Hedera type
964391	fah	DOID:0050726 - tyrosinemia type I
964442	lig4	DOID:0060021 - DNA ligase IV deficiency|DOID:9538 - multiple myeloma
964467	mocs2	DOID:0111164 - molybdenum cofactor deficiency type A
964502	cidec	DOID:0050440 - familial partial lipodystrophy
964547	mastl	DOID:1588 - thrombocytopenia
964566	jph2	DOID:0110323 - hypertrophic cardiomyopathy 17
964687	tm4sf20	DOID:0060244 - specific language impairment
964860	tsfm	DOID:0060286 - combined oxidative phosphorylation deficiency
965028	gale	DOID:9870 - galactosemia
965119	cryba2	DOID:0110237 - cataract 42
965455	dbt	DOID:9269 - maple syrup urine disease
965515	cacng2	DOID:0070040 - autosomal dominant non-syndromic intellectual disability 10
965637	epm2a	DOID:3534 - Lafora disease
965886	rps26	DOID:1339 - Diamond-Blackfan anemia
965953	gatad1	DOID:0110441 - dilated cardiomyopathy 2B
965963	bbs5	DOID:0110123 - Bardet-Biedl syndrome 1
966355	naa10	DOID:0050781 - Ogden syndrome
966368	sema3a	DOID:0050834 - CHARGE syndrome|DOID:0090080 - hypogonadotropic hypogonadism 16 with or without anosmia
966402	figla	DOID:5426 - premature ovarian failure
966464	prkg1	DOID:14004 - thoracic aortic aneurysm
966504	dolk	DOID:0050570 - congenital disorder of glycosylation type I
966696	stub1	DOID:0080029 - autosomal recessive spinocerebellar ataxia 16
966798	prpf8	DOID:0110403 - retinitis pigmentosa 13
966857	setx	DOID:0060196 - amyotrophic lateral sclerosis type 4
966864	ift122	DOID:0050577 - Sensenbrenner syndrome
966886	rho	DOID:0110862 - congenital stationary night blindness autosomal dominant 1|DOID:11105 - fundus albipunctatus
966912	arg1	DOID:9278 - hyperargininemia
966925	exosc3	DOID:0060266 - pontocerebellar hypoplasia type 1B
967036	coq2	DOID:0050730 - coenzyme Q10 deficiency disease
967046	alg8	DOID:0050570 - congenital disorder of glycosylation type I
967145	aaas	DOID:0050602 - triple-A syndrome
967177	rpl26	DOID:1339 - Diamond-Blackfan anemia
967250	pnpt1	DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0110521 - autosomal recessive nonsyndromic deafness 70
967300	mccc1	DOID:0050710 - 3-Methylcrotonyl-CoA carboxylase deficiency
967530	ccn6	DOID:0090004 - progressive pseudorheumatoid arthropathy of childhood
967644	rps24	DOID:1339 - Diamond-Blackfan anemia
968173	atp2c1	DOID:0050429 - Hailey-Hailey disease
968253	taf2	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
968659	c9	DOID:0060303 - complement component 9 deficiency|DOID:0110027 - age related macular degeneration 15
968671	smchd1	DOID:11727 - facioscapulohumeral muscular dystrophy
968699	rpe65	DOID:0110016 - Leber congenital amaurosis 2
968717	myh6	DOID:0110307 - hypertrophic cardiomyopathy 1
968798	rps19	DOID:1339 - Diamond-Blackfan anemia
968840	klhl40	DOID:0110930 - nemaline myopathy 8
968863	gjc2	DOID:0060787 - hypomyelinating leukodystrophy 2
969022	usp8	DOID:7004 - ACTH-secreting pituitary adenoma
969107	bbs10	DOID:0110123 - Bardet-Biedl syndrome 1
969116	tsen54	DOID:0060267 - pontocerebellar hypoplasia type 2A
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 syndrome
969333	vps37a	DOID:0110805 - hereditary spastic paraplegia 53
969407	clpp	DOID:0050857 - Perrault syndrome
969572	vcp	DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia
969738	eef2.1	DOID:0050975 - spinocerebellar ataxia type 26
969776	rps10	DOID:1339 - Diamond-Blackfan anemia
969893	stt3b	DOID:0050570 - congenital disorder of glycosylation type I
969901	gpd1l	DOID:0110219 - Brugada syndrome 2
969934	ddx11	DOID:0060535 - Warsaw breakage syndrome
969999	pex26	DOID:0050444 - infantile Refsum disease|DOID:10582 - Refsum disease|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
970009	ap4m1	DOID:0110802 - hereditary spastic paraplegia 50
970083	nfkb2	DOID:12177 - common variable immunodeficiency
970192	sdhb	DOID:0050771 - phaeochromocytoma|DOID:0050773 - paraganglioma|DOID:6457 - Cowden disease|DOID:9253 - gastrointestinal stromal tumor
970246	cbx2	DOID:14448 - 46 XY gonadal dysgenesis
970632	rrm2b	DOID:0080127 - mitochondrial DNA depletion syndrome 8a
970637	gnb4	DOID:0110206 - Charcot-Marie-Tooth disease dominant intermediate F
970700	tcn2	DOID:0050818 - transcobalamin II deficiency
970771	dgcr2	DOID:12583 - velocardiofacial syndrome
970836	cog7	DOID:0050571 - congenital disorder of glycosylation type II
970847	ears2	DOID:0060286 - combined oxidative phosphorylation deficiency
971258	nubpl	DOID:0060536 - mitochondrial complex I deficiency
971378	cryab	DOID:0080093 - myofibrillar myopathy 2
971396	dstyk	DOID:0080206 - CAKUT1
971500	atxn3	DOID:1440 - Machado-Joseph disease
971527	slc33a1	DOID:0110794 - hereditary spastic paraplegia 42
971587	cycs	DOID:1588 - thrombocytopenia
971612	klhl7	DOID:0110386 - retinitis pigmentosa 42
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
971822	cldn16	DOID:0060880 - renal hypomagnesemia 3
971827	ddb2	DOID:0110846 - xeroderma pigmentosum group E
971916	rgs5	DOID:10825 - essential hypertension
971957	vldlr	DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome
972153	ids	DOID:12799 - mucopolysaccharidosis II
972193	tmem165	DOID:0050571 - congenital disorder of glycosylation type II
972266	etfdh	DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency
972375	wdr45	DOID:0110739 - neurodegeneration with brain iron accumulation 5
972412	dnajb6	DOID:0110305 - autosomal dominant limb-girdle muscular dystrophy type 1E
972470	eif2b1	DOID:0060868 - leukoencephalopathy with vanishing white matter
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
972619	smc1a	DOID:11725 - Cornelia de Lange syndrome
972642	eftud2	DOID:0080196 - mandibulofacial dysostosis, Guion-Almeida type
972825	atpaf2	DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
972921	glrx5	DOID:0060065 - pyridoxine-refractory autosomal recessive sideroblastic anemia
972934	acadm	DOID:0080153 - medium chain acyl-CoA dehydrogenase deficiency
973091	ndufb3	DOID:0060536 - mitochondrial complex I deficiency
973160	mmadhc	DOID:0050716 - methylmalonic aciduria and homocystinuria type cblD
973184	slc25a15	DOID:0050720 - ornithine translocase deficiency
973260	nhp2	DOID:0070015 - autosomal recessive dyskeratosis congenita 1|DOID:0070017 - autosomal recessive dyskeratosis congenita 2
973271	b4galt7	DOID:0050802 - Ehlers-Danlos syndrome progeroid type
973306	sncb	DOID:12217 - Lewy body dementia
973477	pex19	DOID:905 - Zellweger syndrome
973540	arhgdia	DOID:1184 - nephrotic syndrome
973628	mpi	DOID:0050570 - congenital disorder of glycosylation type I
973637	stt3a	DOID:0050570 - congenital disorder of glycosylation type I
973687	tat	DOID:0050725 - tyrosinemia type II
973705	tmem138	DOID:0110980 - Joubert syndrome 1|DOID:0110985 - Joubert syndrome 16
973747	pomgnt2	DOID:0050588 - muscular dystrophy-dystroglycanopathy
973826	nup155	DOID:0050650 - familial atrial fibrillation
973888	hba2	DOID:0110031 - hemoglobin H disease|DOID:1099 - alpha thalassemia
973906	crbn	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
974088	eif2b2	DOID:0060868 - leukoencephalopathy with vanishing white matter
974113	b3galt6	DOID:0050802 - Ehlers-Danlos syndrome progeroid type
974303	ethe1	DOID:0060640 - ethylmalonic encephalopathy
974452	tardbp	DOID:0060201 - amyotrophic lateral sclerosis type 10
974513	gatm	DOID:0050712 - AGAT deficiency
974587	apopt1	DOID:3762 - cytochrome-c oxidase deficiency disease
974662	sec23b	DOID:1338 - congenital dyserythropoietic anemia
974693	c6.2	DOID:0060299 - complement component 6 deficiency
974719	cdc6	DOID:0060306 - Meier-Gorlin syndrome
974885	lztfl1	DOID:0110123 - Bardet-Biedl syndrome 1
974947	sdhc	DOID:0050773 - paraganglioma|DOID:9253 - gastrointestinal stromal tumor
975114	atp2a1	DOID:0050692 - Brody myopathy
975255	slc7a7	DOID:0060439 - lysinuric protein intolerance
975266	dhfr	DOID:13382 - megaloblastic anemia
975276	ndufs2	DOID:0060536 - mitochondrial complex I deficiency
975312	slc1a3	DOID:0050994 - episodic ataxia type 6
975372	iqcb1	DOID:0050576 - Senior-Loken syndrome
975698	pcbd1	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 - juvenile onset Parkinson disease 19A
975936	mkks	DOID:0110123 - Bardet-Biedl syndrome 1
975959	ndufaf5	DOID:0060536 - mitochondrial complex I deficiency
976034	dgcr8	DOID:12583 - velocardiofacial syndrome
976154	uqcrc2	DOID:0080114 - mitochondrial complex III deficiency nuclear type 5
976197	dao	DOID:5419 - schizophrenia
976228	ddx59	DOID:0060375 - orofaciodigital syndrome V
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
976386	cant1	DOID:0060462 - Desbuquois dysplasia
976426	gpc4	DOID:0060248 - Simpson-Golabi-Behmel syndrome|DOID:2154 - nephroblastoma
976452	adam9	DOID:0111020 - cone-rod dystrophy 9
976502	samhd1	DOID:0050629 - Aicardi-Goutieres syndrome|DOID:0060386 - Chilblain lupus
976622	dpm1	DOID:0050570 - congenital disorder of glycosylation type I
976641	calm1	DOID:0060678 - catecholaminergic polymorphic ventricular tachycardia 4
976889	rars2	DOID:0060275 - pontocerebellar hypoplasia type 6
976954	cat.2	DOID:2582 - acatalasia
977084	cyp4v2	DOID:0050664 - Bietti crystalline corneoretinal dystrophy
977112	fmr1	DOID:0050879 - fragile X-associated tremor/ataxia syndrome|DOID:14261 - fragile X syndrome|DOID:5426 - premature ovarian failure
977138	chrna1	DOID:0080110 - multiple pterygium syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A
977251	dlg3	DOID:0050776 - non-syndromic X-linked intellectual disability
977281	acat1	DOID:14723 - beta-ketothiolase deficiency
977325	rps7	DOID:1339 - Diamond-Blackfan anemia
977342	pdhb	DOID:3649 - pyruvate decarboxylase deficiency
977361	dvl3	DOID:0060766 - autosomal dominant Robinow syndrome 1
977451	uqcrq	DOID:0080111 - mitochondrial complex III deficiency nuclear type 1
977473	kif5c	DOID:0090133 - complex cortical dysplasia with other brain malformations 2
977517	msh2	DOID:0050465 - Muir-Torre syndrome|DOID:3070 - malignant glioma|DOID:3883 - Lynch syndrome|DOID:8712 - neurofibromatosis
977582	g6pc3.1	DOID:0050590 - severe congenital neutropenia
977669	phb	DOID:1612 - breast cancer
977783	ass1	DOID:9273 - citrullinemia
977813	spr	DOID:0111168 - sepiapterin reductase deficiency
977902	hps1	DOID:0060539 - Hermansky-Pudlak syndrome 1
977980	xpa	DOID:0110843 - xeroderma pigmentosum group A
978018	scn1a	DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0060171 - Dravet syndrome|DOID:0060178 - familial hemiplegic migraine|DOID:2481 - infantile epileptic encephalopathy
978041	fancl	DOID:0111082 - Fanconi anemia complementation group L
978215	dusp6	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090090 - hypogonadotropic hypogonadism 19 with or without anosmia
978241	gdap1	DOID:0110167 - Charcot-Marie-Tooth disease axonal type 2K|DOID:0110185 - Charcot-Marie-Tooth disease type 4A
978265	ccdc6	DOID:3969 - papillary thyroid carcinoma
978274	dlg5	DOID:0110892 - inflammatory bowel disease 1
978428	gns	DOID:12801 - mucopolysaccharidosis III
978452	cybb	DOID:3265 - chronic granulomatous disease
978490	sumo1	DOID:0050567 - orofacial cleft
978788	mgat2	DOID:0050571 - congenital disorder of glycosylation type II
978807	lim2	DOID:0110263 - cataract 19 multiple types
978819	wfs1	DOID:0110584 - autosomal dominant nonsyndromic deafness 6|DOID:0110629 - Wolfram syndrome 1|DOID:9352 - type 2 diabetes mellitus
978834	spg21	DOID:0060245 - Mast syndrome
978846	mtfmt	DOID:0060286 - combined oxidative phosphorylation deficiency
978895	twnk	DOID:0050556 - infantile onset spinocerebellar ataxia|DOID:0080121 - mitochondrial DNA depletion syndrome 3
978984	mmaa	DOID:0060742 - methylmalonic acidemia cb1A type
978998	kif11	DOID:0060349 - microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
979087	bbs1	DOID:0110123 - Bardet-Biedl syndrome 1
979149	habp2	DOID:2452 - thrombophilia
979183	ikbkg	DOID:12305 - Bloch-Sulzberger syndrome|DOID:14793 - hypohidrotic ectodermal dysplasia
979206	hdc	DOID:11119 - Gilles de la Tourette syndrome
979242	pofut1	DOID:0060256 - Dowling-Degos disease
979280	myo1a	DOID:0110571 - autosomal dominant nonsyndromic deafness 48
979299	lbr	DOID:9631 - Pelger-Huet anomaly
979354	znf644	DOID:11830 - myopia
979544	ccno	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:0110679 - congenital myasthenic syndrome 4C
979722	agk	DOID:0080132 - Sengers syndrome|DOID:0110245 - cataract 38
979734	bin1	DOID:14717 - centronuclear myopathy
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
980230	c8a	DOID:0060301 - type I complement component 8 deficiency
980341	cngb1	DOID:10584 - retinitis pigmentosa
980390	hydin	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
980526	robo2	DOID:9620 - vesicoureteral reflux
980531	abcb7	DOID:0050554 - X-linked sideroblastic anemia with ataxia
980549	arhgef9	DOID:0050709 - Ohtahara syndrome|DOID:2481 - infantile epileptic encephalopathy
980567	atrx	DOID:0110030 - alpha thalassemia-X-linked intellectual disability syndrome
980578	slc16a2	DOID:0050631 - Allan-Herndon-Dudley syndrome
980610	dhtkd1	DOID:0110170 - Charcot-Marie-Tooth disease axonal type 2Q
980647	cep41	DOID:0110980 - Joubert syndrome 1|DOID:0110984 - Joubert syndrome 15
980794	ess2	DOID:12583 - velocardiofacial syndrome
980811	bcr	DOID:8552 - chronic myeloid leukemia
980896	scnn1g	DOID:0050477 - Liddle syndrome|DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1
981051	fat4	DOID:0060238 - Van Maldergem syndrome
981143	slc6a4l	DOID:2030 - anxiety disorder
981187	pigr	DOID:2986 - IgA glomerulonephritis
981207	pln	DOID:0110439 - dilated cardiomyopathy 1P
981264	cfh	DOID:0060746 - basal laminar drusen|DOID:0110017 - age related macular degeneration 4
981380	vps33b	DOID:0050763 - ARC syndrome
981624	abcg8	DOID:0090019 - sitosterolemia
981634	prepl	DOID:0060858 - hypotonia-cystinuria syndrome
981680	tbc1d24.1	DOID:0110532 - autosomal recessive nonsyndromic deafness 86
981705	tsc2	DOID:13515 - tuberous sclerosis
981722	slx4	DOID:0111092 - Fanconi anemia complementation group P
981845	lmbr1	DOID:0050603 - acheiropody|DOID:11193 - syndactyly|DOID:1148 - polydactyly
981974	snrnp200	DOID:0110366 - retinitis pigmentosa 33
981991	gck	DOID:0050524 - maturity-onset diabetes of the young|DOID:0060639 - permanent neonatal diabetes mellitus|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|DOID:2154 - nephroblastoma
982143	atxn1	DOID:0050954 - spinocerebellar ataxia type 1
982202	btd	DOID:856 - biotinidase deficiency
982273	rpgr	DOID:0110414 - retinitis pigmentosa 3|DOID:0111008 - X-linked cone-rod dystrophy 1
982299	otc	DOID:9271 - ornithine carbamoyltransferase deficiency
982323	ano6	DOID:0111052 - Scott syndrome
982365	coch	DOID:0110593 - autosomal dominant nonsyndromic deafness 9
982533	dlat	DOID:3649 - pyruvate decarboxylase deficiency
982560	blm	DOID:2717 - Bloom syndrome
982585	cln6	DOID:0110729 - neuronal ceroid lipofuscinosis 6
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:14451 - hyperkalemic periodic paralysis|DOID:14452 - hypokalemic periodic paralysis
982842	reln	DOID:0060748 - familial temporal lobe epilepsy 1|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
982872	slc6a3	DOID:1094 - attention deficit hyperactivity disorder
982902	pdss1	DOID:0050730 - coenzyme Q10 deficiency disease
982926	armc4	DOID:0110609 - primary ciliary dyskinesia 23
983055	fbln5	DOID:0070130 - autosomal dominant cutis laxa 1|DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:3144 - cutis laxa
983071	gfm1	DOID:0060286 - combined oxidative phosphorylation deficiency
983103	kcnh2	DOID:0050793 - short QT syndrome
983161	nek1	DOID:0110092 - short-rib thoracic dysplasia 6 with or without polydactyly
983223	slc19a3	DOID:0050659 - biotin-responsive basal ganglia disease
983244	gsdme	DOID:0110575 - autosomal dominant nonsyndromic deafness 5
983284	ddc	DOID:0090123 - aromatic L-amino acid decarboxylase deficiency
983417	gucy1a1	DOID:13099 - Moyamoya disease
983490	lamb3	DOID:0060737 - junctional epidermolysis bullosa Herlitz type|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type
983509	pitpnm3	DOID:0111010 - cone-rod dystrophy 5
983521	hip1	DOID:10283 - prostate cancer
983542	rhag	DOID:0050641 - Rh deficiency syndrome
983585	matr3	DOID:0060212 - amyotrophic lateral sclerosis type 21
983639	tk2	DOID:0080120 - mitochondrial DNA depletion syndrome 2|DOID:0080121 - mitochondrial DNA depletion syndrome 3
983661	cdh15	DOID:0070033 - autosomal dominant non-syndromic intellectual disability 3
983713	kif5a	DOID:0110763 - hereditary spastic paraplegia 10
983721	syne2.2	DOID:11726 - Emery-Dreifuss muscular dystrophy
983791	dnal1	DOID:0110613 - primary ciliary dyskinesia 16
983823	sell	DOID:2986 - IgA glomerulonephritis
983840	atf4	DOID:10629 - microphthalmia
983911	rpl5	DOID:1339 - Diamond-Blackfan anemia
983981	impg2	DOID:0110371 - retinitis pigmentosa 56
984010	taf15	DOID:6496 - extraskeletal myxoid chondrosarcoma
984031	ca4	DOID:0110404 - retinitis pigmentosa 17
984100	edaradd	DOID:14793 - hypohidrotic ectodermal dysplasia
984173	chat	DOID:0110671 - congenital myasthenic syndrome 6
984403	hgsnat	DOID:12801 - mucopolysaccharidosis III
984408	pomk	DOID:0050588 - muscular dystrophy-dystroglycanopathy
984424	kl	DOID:0111063 - hyperphosphatemic familial tumoral calcinosis
984452	masp1	DOID:0060575 - 3MC syndrome 1
984491	ccdc50	DOID:0110569 - autosomal dominant nonsyndromic deafness 44
984503	slc35c1	DOID:0050571 - congenital disorder of glycosylation type II|DOID:6612 - leukocyte adhesion deficiency
984582	rb1cc1	DOID:1612 - breast cancer
984605	dsg2	DOID:0110081 - arrhythmogenic right ventricular dysplasia 10
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:12705 - Friedreich ataxia
984749	htr1a	DOID:9620 - vesicoureteral reflux
984800	fancd2	DOID:0111083 - Fanconi anemia complementation group D2
984836	prss12	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
984958	nf2	DOID:3204 - neurilemmomatosis|DOID:8712 - neurofibromatosis
984992	trim37	DOID:0050436 - mulibrey nanism
985148	tmem67	DOID:0070117 - Meckel syndrome 3|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0111001 - Joubert syndrome 6
985171	matn3	DOID:12721 - multiple epiphyseal dysplasia
985174	wdr35	DOID:0050577 - Sensenbrenner syndrome|DOID:0110090 - short-rib thoracic dysplasia 7 with or without polydactyly
985231	itga7	DOID:0110639 - congenital muscular dystrophy due to integrin alpha-7 deficiency
985355	cib2	DOID:0110505 - autosomal recessive nonsyndromic deafness 48|DOID:0110836 - Usher syndrome type 1J
985414	pex1	DOID:0050444 - infantile Refsum disease|DOID:10582 - Refsum disease|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
985510	srd5a3	DOID:0050570 - congenital disorder of glycosylation type I|DOID:0050807 - Kahrizi syndrome
985593	prph2	DOID:0050661 - vitelliform macular dystrophy|DOID:0060866 - patterned macular dystrophy 1|DOID:0110383 - retinitis pigmentosa 7|DOID:11105 - fundus albipunctatus
985614	syt14	DOID:0080063 - autosomal recessive spinocerebellar ataxia 11
985697	manba	DOID:3633 - beta-mannosidosis
985727	tacr3	DOID:0090071 - hypogonadotropic hypogonadism 11 with or without anosmia
985829	mccc2	DOID:0050710 - 3-Methylcrotonyl-CoA carboxylase deficiency
985840	ick	DOID:0060641 - endocrine-cerebro-osteodysplasia syndrome
985870	med12	DOID:14711 - FG syndrome
985987	fezf1	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
986036	fancc	DOID:0111087 - Fanconi anemia complementation group C
986140	nectin1	DOID:0060773 - cleft lip-palate-ectodermal dysplasia syndrome
986220	htr2a	DOID:0050741 - alcohol dependence|DOID:1595 - endogenous 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
986285	eif2b5	DOID:0060868 - leukoencephalopathy with vanishing white matter
986302	klf6	DOID:10283 - prostate cancer|DOID:10534 - stomach cancer
986413	card9	DOID:2058 - chronic mucocutaneous candidiasis
986625	rasgrp2	DOID:0111051 - platelet-type bleeding disorder 18
986637	msh6	DOID:1380 - endometrial cancer
986646	fshr	DOID:14450 - 46 XX gonadal dysgenesis|DOID:5425 - ovarian hyperstimulation syndrome
986666	epcam	DOID:0060776 - congenital diarrhea 5 with tufting enteropathy|DOID:3883 - Lynch syndrome
986683	ccdc40	DOID:0110623 - primary ciliary dyskinesia 15
986712	mc3r	DOID:9970 - obesity
986759	pcdh15	DOID:0110481 - autosomal recessive nonsyndromic deafness 23|DOID:0110831 - Usher syndrome type 1D|DOID:0110832 - Usher syndrome type 1F
986762	papss2	DOID:0050812 - spondyloepimetaphyseal dysplasia, Pakistani type
986795	adamtsl4	DOID:0111149 - autosomal recessive isolated ectopia lentis 2
986804	idua	DOID:0060222 - Scheie syndrome|DOID:12802 - mucopolysaccharidosis I
986814	ercc4	DOID:0060590 - XFE progeroid syndrome|DOID:0110848 - xeroderma pigmentosum group F
986839	slc6a8	DOID:0050800 - creatine transporter deficiency
986853	sptan1	DOID:0050709 - Ohtahara syndrome|DOID:2481 - infantile epileptic encephalopathy
986901	hsd17b10	DOID:0060810 - syndromic X-linked intellectual disability type 10
986913	tor1a	DOID:0060730 - torsion dystonia 1
986929	tgm5	DOID:0060283 - peeling skin syndrome
986934	slc4a1	DOID:0110919 - hereditary spherocytosis type 4|DOID:14219 - renal tubular acidosis
986941	g6pc3.2	DOID:0050590 - severe congenital neutropenia
986947	mapt	DOID:11870 - Pick's disease|DOID:14330 - Parkinson's disease|DOID:678 - progressive supranuclear palsy|DOID:9255 - frontotemporal dementia
986961	taco1	DOID:3762 - cytochrome-c oxidase deficiency disease
986968	pyy	DOID:9970 - obesity
987030	cep57	DOID:0080142 - mosaic variegated aneuploidy syndrome 2
987054	tmc1	DOID:0110520 - autosomal recessive nonsyndromic deafness 7|DOID:0110563 - autosomal dominant nonsyndromic deafness 36
987087	dock8	DOID:0070032 - autosomal dominant non-syndromic intellectual disability 2
987117	hyal1	DOID:0050809 - mucopolysaccharidosis IX
987207	ap3b1	DOID:0060540 - Hermansky-Pudlak syndrome 2
987315	rcbtb1	DOID:0050741 - alcohol dependence
987397	f5	DOID:2216 - factor V deficiency|DOID:6713 - cerebrovascular disease
987475	asl	DOID:14755 - argininosuccinic aciduria
987495	auts2	DOID:0070056 - autosomal dominant non-syndromic intellectual disability 26
987502	kctd7	DOID:891 - progressive myoclonus epilepsy
987625	rai1	DOID:0060768 - Smith-Magenis syndrome
987669	psmc3ip	DOID:14450 - 46 XX gonadal dysgenesis
987794	ascc1	DOID:9206 - Barrett's esophagus
987973	jph3	DOID:0090104 - Huntington disease-like 2
987981	tsc1	DOID:13515 - tuberous sclerosis
988074	alms1	DOID:0050473 - Alstrom syndrome
988181	enpp1	DOID:0050644 - arterial calcification of infancy|DOID:0060887 - ossification of the posterior longitudinal ligament of spine|DOID:9352 - type 2 diabetes mellitus|DOID:9970 - obesity
988220	ap4e1	DOID:0110803 - hereditary spastic paraplegia 51
988247	pank2	DOID:3981 - pantothenate kinase-associated neurodegeneration
988320	irf4	DOID:9538 - multiple myeloma
988438	myo5b	DOID:0060775 - microvillus inclusion disease
988465	cfap53	DOID:0050545 - visceral heterotaxy
988512	itgb2	DOID:0110910 - leukocyte adhesion deficiency 1
988562	ehhadh	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:0090141 - cortisone reductase deficiency 1
988608	cep152	DOID:0070012 - Seckel syndrome 5
988654	d2hgdh	DOID:0050575 - D-2-hydroxyglutaric aciduria
988754	pde6a	DOID:0110379 - retinitis pigmentosa 43
988818	abcb11	DOID:1852 - intrahepatic cholestasis
988823	nsd2	DOID:0050460 - Wolf-Hirschhorn syndrome
988874	nt5c2	DOID:0110797 - hereditary spastic paraplegia 45
988964	slc17a8	DOID:0110555 - autosomal dominant nonsyndromic deafness 25
988986	mypn	DOID:0110445 - dilated cardiomyopathy 1KK|DOID:397 - restrictive cardiomyopathy
989046	ccdc39	DOID:0110598 - primary ciliary dyskinesia 14
989057	opa1	DOID:5723 - optic atrophy
989093	smoc1	DOID:0060861 - microphthalmia with limb anomalies
989205	nsd1	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
989358	p3h1	DOID:0110336 - osteogenesis imperfecta type 8
989399	tmem70	DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
989417	itgbl1	DOID:8398 - osteoarthritis
989432	ank3	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
989443	crygd	DOID:0110234 - cataract 4 multiple types
989453	pikfyve	DOID:0060448 - Fleck corneal dystrophy
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:3652 - Leigh disease
989612	vps13a	DOID:0050766 - chorea-acanthocytosis
989641	gphn	DOID:0060696 - hyperekplexia 1|DOID:0111164 - molybdenum cofactor deficiency type A
989668	whrn	DOID:0110490 - autosomal recessive nonsyndromic deafness 31|DOID:0110840 - Usher syndrome type 2D
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
989974	chrnd	DOID:0080110 - multiple pterygium syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A
990004	rubcn	DOID:0080057 - autosomal recessive spinocerebellar ataxia 15
990009	chrng	DOID:0080110 - multiple pterygium syndrome
990047	lamc2	DOID:0060737 - junctional epidermolysis bullosa Herlitz type|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type
990074	kiss1r	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
990129	abhd12	DOID:0080181 - PHARC syndrome
990214	drd4	DOID:1094 - attention deficit hyperactivity disorder|DOID:14330 - Parkinson's disease
990377	nek8	DOID:0060259 - renal-hepatic-pancreatic dysplasia|DOID:0111120 - nephronophthisis 9
990391	best1	DOID:0050661 - vitelliform macular dystrophy|DOID:0050662 - bestrophinopathy
990416	ifitm5	DOID:0110344 - osteogenesis imperfecta type 5
990419	sdhaf2	DOID:0050773 - paraganglioma
990499	p2rx7	DOID:1040 - chronic lymphocytic leukemia
990684	dgke	DOID:1184 - nephrotic syndrome
990804	spart	DOID:0050886 - Troyer syndrome
990891	rdx	DOID:0110482 - autosomal recessive nonsyndromic deafness 24
990957	dlec1	DOID:1324 - lung cancer|DOID:5041 - esophageal cancer
990994	rapsn	DOID:0110679 - congenital myasthenic syndrome 4C
991084	pah	DOID:9281 - phenylketonuria
991122	cacna2d4	DOID:0050795 - cone dystrophy
991125	cacna1c	DOID:0060173 - Timothy syndrome|DOID:0110220 - Brugada syndrome 3
991258	xpc	DOID:0110844 - xeroderma pigmentosum group C
991429	slc24a1	DOID:0110868 - congenital stationary night blindness 1D
991467	kbtbd13	DOID:0110935 - nemaline myopathy 6
991482	tshr	DOID:7998 - hyperthyroidism
991488	ocrl	DOID:0050699 - Dent disease|DOID:1056 - oculocerebrorenal syndrome
991742	pof1b	DOID:5426 - premature ovarian failure
991800	sacs	DOID:0050946 - Charlevoix-Saguenay spastic ataxia
991851	mlh3	DOID:1380 - endometrial cancer|DOID:9256 - colorectal cancer
991974	elp4	DOID:12271 - aniridia
992091	dcx	DOID:0050453 - lissencephaly
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:0080102 - congenital fiber-type disproportion|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:11720 - distal muscular dystrophy
992518	drd5	DOID:1094 - attention deficit hyperactivity disorder|DOID:529 - blepharospasm
992543	evc	DOID:12714 - Ellis-Van Creveld syndrome
992619	dock6	DOID:0060227 - Adams-Oliver syndrome
992649	nfix	DOID:0050858 - Marshall-Smith syndrome|DOID:14748 - Sotos syndrome
992717	ciita	DOID:5812 - MHC class II deficiency|DOID:7148 - rheumatoid arthritis
992740	grin2a	DOID:2538 - Landau-Kleffner syndrome
992874	wrn	DOID:5688 - Werner syndrome
992884	aldh1a3	DOID:0060841 - isolated microphthalmia 8
992966	iba57	DOID:0080135 - multiple mitochondrial dysfunctions syndrome 3
993051	opn1sw	DOID:11661 - blue color blindness
993110	pex14	DOID:905 - Zellweger syndrome
993190	npr2	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
993291	wdr11	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:3070 - malignant glioma
993327	rtf1	DOID:0050570 - congenital disorder of glycosylation type I
993367	nmnat1	DOID:0110005 - Leber congenital amaurosis 9
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
993561	cstb	DOID:3535 - Unverricht-Lundborg syndrome
993784	pccb	DOID:14701 - propionic acidemia
993851	slc6a5	DOID:0060696 - hyperekplexia 1
994031	mpdz	DOID:10908 - hydrocephalus
994038	sra1	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
994076	gpr179	DOID:0110869 - congenital stationary night blindness 1E
994159	comp	DOID:0080047 - pseudoachondroplasia|DOID:12721 - multiple epiphyseal dysplasia
994243	topors	DOID:0110391 - retinitis pigmentosa 31
994257	upf3b	DOID:0060821 - syndromic X-linked intellectual disability 14
994343	trim24	DOID:3969 - papillary thyroid carcinoma
994353	fbxo7	DOID:0060372 - autosomal recessive early-onset Parkinson disease 15
994490	phka2	DOID:0111042 - glycogen storage disease IXa
994521	tbx22	DOID:0060613 - X-linked cleft palate with or without ankyloglossia
994579	tmprss3	DOID:0110527 - autosomal recessive nonsyndromic deafness 8
994618	eogt	DOID:0060227 - Adams-Oliver syndrome
994627	scn1b	DOID:0060170 - generalized epilepsy with febrile seizures plus
994674	crh	DOID:0080150 - adrenocorticotropic hormone deficiency
994727	phkg2	DOID:0111043 - glycogen storage disease IXc
994836	bckdk	DOID:0090126 - branched-chain keto acid dehydrogenase kinase deficiency
994893	lrsam1	DOID:0110169 - Charcot-Marie-Tooth disease axonal type 2P
994975	pde8b	DOID:0060280 - primary pigmented nodular adrenocortical disease|DOID:4751 - striatonigral degeneration
994992	ildr1	DOID:0110500 - autosomal recessive nonsyndromic deafness 42
995002	taf4b	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
995305	ephx1	DOID:10591 - pre-eclampsia
995332	glo1	DOID:12849 - autistic disorder
995438	stag3	DOID:5426 - premature ovarian failure
995560	rab3gap1	DOID:0110716 - Warburg micro syndrome 1
995699	cldn14	DOID:0110487 - autosomal recessive nonsyndromic deafness 29
995709	grn	DOID:0060672 - Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
995775	sorl1	DOID:10652 - Alzheimer's disease
995808	ogg1	DOID:0050387 - nonpapillary renal cell carcinoma
995987	tymp	DOID:0080119 - mitochondrial DNA depletion syndrome 1
996012	hgd	DOID:9270 - alkaptonuria
996060	bbs7	DOID:0110123 - Bardet-Biedl syndrome 1
996079	tnfrsf1a	DOID:0090018 - autosomal dominant familial periodic fever
996082	scnn1a	DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1
996119	cavin1	DOID:0111138 - congenital generalized lipodystrophy type 4
996130	atp1a3	DOID:0090056 - dystonia 12
996139	itih4	DOID:13810 - familial hypercholesterolemia
996191	nsmf	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
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
996764	piga	DOID:0060284 - paroxysmal nocturnal hemoglobinuria|DOID:0080139 - multiple congenital anomalies-hypotonia-seizures syndrome 2
996786	prpf3	DOID:0110356 - retinitis pigmentosa 18
996800	tars2	DOID:0060286 - combined oxidative phosphorylation deficiency
996839	atp13a2	DOID:0060556 - Kufor-Rakeb syndrome
996922	abcc8	DOID:0060334 - transient neonatal diabetes mellitus|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:13317 - hyperinsulinemic hypoglycemia|DOID:9352 - type 2 diabetes mellitus
996930	ptpro	DOID:1184 - nephrotic syndrome
996935	eps8	DOID:0110463 - autosomal recessive nonsyndromic deafness 102
997012	gp9	DOID:2217 - Bernard-Soulier syndrome
997154	kif1c	DOID:0050941 - spastic ataxia 2
997224	adk	DOID:0111038 - hypermethioninemia due to adenosine kinase deficiency
997236	mocs1	DOID:0111164 - molybdenum cofactor deficiency type A
997245	blmh	DOID:10652 - Alzheimer's disease
997313	cln3	DOID:0110731 - neuronal ceroid lipofuscinosis 3
997324	tpp1	DOID:0110726 - neuronal ceroid lipofuscinosis 2
997398	slc26a2	DOID:0050648 - atelosteogenesis|DOID:0080055 - achondrogenesis type IB|DOID:12721 - multiple epiphyseal dysplasia|DOID:14687 - diastrophic dysplasia
997412	col9a3	DOID:12721 - multiple epiphyseal dysplasia
997487	ndufs3	DOID:0060536 - mitochondrial complex I deficiency|DOID:3652 - Leigh disease
997693	smpd1	DOID:0070111 - Niemann-Pick disease type A|DOID:0070112 - Niemann-Pick disease type B
997712	prpf6	DOID:0110411 - retinitis pigmentosa 60
997730	eif2b4	DOID:0060868 - leukoencephalopathy with vanishing white matter
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:0111162 - epidermal nevus|DOID:10534 - stomach cancer|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:6498 - seborrheic keratosis|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
998136	mutyh	DOID:0050424 - familial adenomatous polyposis|DOID:10534 - stomach cancer|DOID:5374 - pilomatrixoma
998159	c8b	DOID:0060302 - type II complement component 8 deficiency
998186	alg6	DOID:0050570 - congenital disorder of glycosylation type I
998202	myf6	DOID:11723 - Duchenne muscular dystrophy|DOID:14717 - centronuclear myopathy
998505	lztr1	DOID:3204 - neurilemmomatosis
998595	cox7b	DOID:10629 - microphthalmia
998605	magt1	DOID:0050776 - non-syndromic X-linked intellectual disability
998623	irf5	DOID:0110895 - inflammatory bowel disease 14
998736	slitrk1	DOID:11119 - Gilles de la Tourette syndrome
998836	col6a3	DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy
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 cb1B type
998898	trpv4	DOID:0050690 - brachyolmia|DOID:0110182 - Charcot-Marie-Tooth disease axonal type 2C
998916	crybb1	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
999122	ncf1	DOID:3265 - chronic granulomatous disease
999130	gm2a	DOID:4795 - Tay-Sachs disease AB variant
999159	slc3a1	DOID:0060858 - hypotonia-cystinuria syndrome|DOID:9266 - cystinuria
999368	cnnm2	DOID:0060884 - renal hypomagnesemia 6
999399	elmod3	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 non-syndromic intellectual disability
999723	star	DOID:0050811 - congenital adrenal hyperplasia
999943	ndufaf3	DOID:0060536 - mitochondrial complex I deficiency
999991	hgf	DOID:0110497 - autosomal recessive nonsyndromic deafness 39
1000031	slc26a5	DOID:0110513 - autosomal recessive nonsyndromic deafness 61
1000106	galc	DOID:10587 - Krabbe disease
1000121	ttc8	DOID:0110123 - Bardet-Biedl syndrome 1
1000271	mrpl44	DOID:0060286 - combined oxidative phosphorylation deficiency
1000282	mrps22	DOID:0060286 - combined oxidative phosphorylation deficiency
1000397	gabra2	DOID:0050741 - alcohol dependence
1000414	phox2b	DOID:0060731 - congenital central hypoventilation syndrome
1000431	uchl1	DOID:14330 - Parkinson's disease
1000464	lrat	DOID:0110188 - Leber congenital amaurosis 14|DOID:10584 - retinitis pigmentosa
1000475	ercc8	DOID:2962 - Cockayne syndrome
1000547	pola1	DOID:0050769 - N syndrome
1000590	galns	DOID:12804 - mucopolysaccharidosis IV
1000615	fanca	DOID:0111095 - Fanconi anemia complementation group A
1000683	pfkm	DOID:11721 - glycogen storage disease VII
1000784	aco2	DOID:0050883 - infantile cerebellar-retinal degeneration
1000801	dpyd	DOID:14218 - dihydropyrimidine dehydrogenase deficiency
1000809	abca4	DOID:0050817 - Stargardt disease|DOID:0110015 - age related macular degeneration 2|DOID:0110354 - retinitis pigmentosa 19|DOID:0111013 - cone-rod dystrophy 3
1000976	rpl11	DOID:1339 - Diamond-Blackfan anemia
1001003	mtr	DOID:0050567 - orofacial cleft|DOID:0080074 - neural tube defect|DOID:14250 - Down syndrome
1001032	slc35a1	DOID:0050571 - congenital disorder of glycosylation type II
1001118	abcb6	DOID:0060304 - dyschromatosis universalis hereditaria
1001125	glb1	DOID:12804 - mucopolysaccharidosis IV|DOID:3322 - gangliosidosis GM1
1001137	lct.2	DOID:10604 - lactose intolerance
1001142	abca1	DOID:13810 - familial hypercholesterolemia|DOID:1388 - Tangier disease
1001222	polr1d.1	DOID:2908 - Treacher Collins syndrome
1001428	agl	DOID:2748 - glycogen storage disease III
1001463	tyrp1	DOID:0050632 - oculocutaneous albinism|DOID:0070097 - oculocutaneous albinism type III
1001554	ift27	DOID:0110123 - Bardet-Biedl syndrome 1
1001621	aga	DOID:0050461 - aspartylglucosaminuria
1001718	nop10	DOID:0070015 - autosomal recessive dyskeratosis congenita 1
1001789	pdlim4	DOID:11476 - osteoporosis
1001869	serpinb6	DOID:0110536 - autosomal recessive nonsyndromic deafness 91
1002029	mtm1	DOID:14717 - centronuclear myopathy
1002041	stra6	DOID:0050819 - Matthew-Wood syndrome|DOID:10629 - microphthalmia
1002049	loxl1	DOID:13641 - exfoliation syndrome
1002141	dhdds	DOID:0110352 - retinitis pigmentosa 59
1002199	rd3	DOID:0110080 - Leber congenital amaurosis 12
1002221	myh9	DOID:0060651 - MYH-9 related disease|DOID:0110548 - autosomal dominant nonsyndromic deafness 17
1002380	cartpt	DOID:9970 - obesity
1002396	hexb	DOID:3323 - Sandhoff disease
1002425	dst	DOID:0070151 - hereditary sensory and autonomic neuropathy type 6|DOID:4644 - epidermolysis bullosa simplex
1002595	fbp1	DOID:5204 - fructose-1,6-bisphosphatase deficiency
1002678	dnase1l3	DOID:9074 - systemic lupus erythematosus
1002731	ccdc65	DOID:0110611 - primary ciliary dyskinesia 27
1002738	thpo	DOID:2224 - essential thrombocythemia
1002815	tnc	DOID:0110581 - autosomal dominant nonsyndromic deafness 56
1002842	pafah1b1	DOID:0050453 - lissencephaly|DOID:0060469 - Miller-Dieker lissencephaly syndrome
1002899	nfu1	DOID:0080133 - multiple mitochondrial dysfunctions syndrome 1
1002955	cfl2	DOID:0110934 - nemaline myopathy 7
1003053	tecr	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
1003153	dpm2	DOID:0050570 - congenital disorder of glycosylation type I
1003263	gnat1	DOID:0110715 - congenital stationary night blindness autosomal dominant 3
1003483	slc7a9	DOID:9266 - cystinuria
1003505	sbds	DOID:0060479 - Shwachman-Diamond syndrome|DOID:12449 - aplastic anemia
1003541	zbtb18	DOID:0070052 - autosomal dominant non-syndromic intellectual disability 22
1003589	flcn	DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0050676 - Birt-Hogg-Dube syndrome|DOID:9256 - colorectal cancer
1003643	gne	DOID:3429 - inclusion body myositis|DOID:3659 - sialuria
1003795	vrk1	DOID:0060265 - pontocerebellar hypoplasia type 1A
1003891	lca5	DOID:0110215 - Leber congenital amaurosis 5
1003993	med23	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
1004062	rfxank	DOID:5812 - MHC class II deficiency
1004101	myo5a	DOID:0060832 - Griscelli syndrome type 1
1004119	megf8	DOID:0060234 - Carpenter syndrome
1004149	f13a1	DOID:2211 - factor XIII deficiency|DOID:2452 - thrombophilia
1004402	ppargc1b	DOID:9970 - obesity
1004430	frem2	DOID:0090001 - Fraser syndrome
1004442	rnaseh2b	DOID:0050629 - Aicardi-Goutieres syndrome
1004467	sbf2	DOID:0110190 - Charcot-Marie-Tooth disease type 4B2
1004769	lama4	DOID:0110438 - dilated cardiomyopathy 1JJ
1004810	f12	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
1004879	sptlc1	DOID:0070152 - hereditary sensory and autonomic neuropathy type 1A
1004993	idh1	DOID:3070 - malignant glioma
1005055	zfyve26	DOID:0110768 - hereditary spastic paraplegia 15
1005104	serpinh1	DOID:0111144 - preterm premature rupture of the membranes
1005173	sgsh	DOID:12801 - mucopolysaccharidosis III
1005315	park7	DOID:0060370 - autosomal recessive early-onset Parkinson disease 7
1005346	piezo2	DOID:0050646 - distal arthrogryposis
1005401	mthfr	DOID:0050567 - orofacial cleft|DOID:0080074 - neural tube defect|DOID:2452 - thrombophilia|DOID:5419 - schizophrenia|DOID:9263 - homocystinuria
1005590	myo1e.1	DOID:0111131 - focal segmental glomerulosclerosis 6
1005615	nde1	DOID:0050453 - lissencephaly
1005706	oat.2	DOID:1415 - gyrate atrophy
1005778	drd2	DOID:0090034 - myoclonic dystonia 11
1006118	dguok	DOID:0080121 - mitochondrial DNA depletion syndrome 3
1006199	otof	DOID:0110535 - autosomal recessive nonsyndromic deafness 9
1006265	ctns	DOID:1064 - cystinosis
1006361	alg1	DOID:0050570 - congenital disorder of glycosylation type I
1006448	plod2	DOID:0060231 - Bruck syndrome
1006487	sod1	DOID:0060193 - amyotrophic lateral sclerosis type 1
1006523	col9a2	DOID:12721 - multiple epiphyseal dysplasia
1006626	ndufa11	DOID:0060536 - mitochondrial complex I deficiency
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
1006905	pomt2	DOID:0050560 - Walker-Warburg syndrome
1006993	ednra	DOID:6364 - migraine
1007048	pabpn1	DOID:11719 - oculopharyngeal muscular dystrophy
1007110	fkbp10	DOID:0110351 - osteogenesis imperfecta type 11
1007277	hadh	DOID:13317 - hyperinsulinemic hypoglycemia
1007289	cyp2u1	DOID:0110808 - hereditary spastic paraplegia 56
1007366	b4gat1	DOID:0050588 - muscular dystrophy-dystroglycanopathy
1007449	cyp2a6.9	DOID:1324 - lung cancer
1007471	bckdha	DOID:9269 - maple syrup urine disease
1007544	psap	DOID:0110961 - atypical Gaucher's disease due to saposin c deficiency|DOID:10581 - metachromatic leukodystrophy
1007617	ndufaf1	DOID:0060536 - mitochondrial complex I deficiency
1007652	nipal4	DOID:0060715 - autosomal recessive congenital ichthyosis 6
1007917	ercc6	DOID:0060240 - UV-sensitive syndrome|DOID:1324 - lung cancer|DOID:2962 - Cockayne syndrome
1007973	rpgrip1	DOID:0111016 - cone-rod dystrophy 13
1008006	dnajc21	DOID:0060479 - Shwachman-Diamond syndrome
1008071	unc13d	DOID:0110923 - familial hemophagocytic lymphohistiocytosis 3
1008077	acox1	DOID:0050797 - peroxisomal acyl-CoA oxidase deficiency
1008098	rad21	DOID:11725 - Cornelia de Lange syndrome
1008433	map3k1	DOID:14448 - 46 XY gonadal dysgenesis
1008464	ndufa1	DOID:0060536 - mitochondrial complex I deficiency
1008561	mgme1	DOID:0080129 - mitochondrial DNA depletion syndrome 11
1008568	prps1	DOID:0050647 - Arts syndrome|DOID:0110210 - Charcot-Marie-Tooth disease X-linked recessive 5
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
1008757	thap1	DOID:0090039 - torsion dystonia 6
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:3652 - Leigh disease
1009050	ap1s1	DOID:0060483 - MEDNIK syndrome
1009062	pex5	DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
1009101	rxylt1	DOID:0050588 - muscular dystrophy-dystroglycanopathy
1009303	hlcs	DOID:859 - holocarboxylase synthetase deficiency
1009306	vps26c	DOID:14250 - Down syndrome
1009577	itga2b.1	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
1009681	atl3	DOID:0070154 - hereditary sensory neuropathy type 1F
1009690	glud1	DOID:13317 - hyperinsulinemic hypoglycemia
1009701	ndufs6	DOID:0060536 - mitochondrial complex I deficiency
1009724	ophn1	DOID:0050888 - syndromic intellectual disability
1009747	c19orf12	DOID:0110738 - neurodegeneration with brain iron accumulation 4|DOID:0110795 - hereditary spastic paraplegia 43
1009819	ercc3	DOID:0110850 - xeroderma pigmentosum group B|DOID:2960 - photosensitive trichothiodystrophy
1009839	mapk10	DOID:0050561 - Lennox-Gastaut syndrome
1009900	polr1c	DOID:2908 - Treacher Collins syndrome
1009953	crtap	DOID:0110337 - osteogenesis imperfecta type 7
1009963	itgb3	DOID:0060691 - platelet-type bleeding disorder 16|DOID:2219 - Glanzmann's thrombasthenia
1010011	adgrv1	DOID:0110839 - Usher syndrome type 2C
1010028	ppox	DOID:4346 - variegate porphyria
1010080	ucp2	DOID:9970 - obesity
1010169	csrp3	DOID:0110318 - hypertrophic cardiomyopathy 12|DOID:0110449 - dilated cardiomyopathy 1M
1010194	taz	DOID:0050476 - Barth syndrome
1010205	cps1	DOID:13042 - persistent fetal circulation syndrome|DOID:9280 - carbamoyl phosphate synthetase I deficiency disease
1010300	alpl	DOID:0110913 - adult hypophosphatasia|DOID:0110914 - infantile hypophosphatasia|DOID:0110915 - childhood hypophosphatasia
1010370	slc7a14	DOID:0110374 - retinitis pigmentosa 68
1010419	phkb	DOID:0111041 - glycogen storage disease IXb
1010431	hsd17b4	DOID:0090031 - D-bifunctional protein deficiency
1010482	gria3	DOID:0060823 - syndromic X-linked intellectual disability 94
1010488	atp7a	DOID:1838 - Menkes disease
1010579	f13b	DOID:2211 - factor XIII deficiency
1010598	kif21a	DOID:0080143 - congenital fibrosis of the extraocular muscles
1010661	kcna1	DOID:0050989 - episodic ataxia type 1
1010697	abca3	DOID:12120 - pulmonary alveolar proteinosis
1010799	nhlrc1	DOID:3534 - Lafora disease
1010833	usp9x	DOID:0050776 - non-syndromic X-linked intellectual disability
1010840	bcor	DOID:10629 - microphthalmia
1010856	bub1b	DOID:0080141 - mosaic variegated aneuploidy syndrome 1|DOID:9256 - colorectal cancer
1011013	lamb1	DOID:0050453 - lissencephaly
1011020	ankh	DOID:0080033 - craniometaphyseal dysplasia|DOID:1156 - chondrocalcinosis
1011110	ifih1	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
1011233	il17f	DOID:2058 - chronic mucocutaneous candidiasis
1011236	efhc1	DOID:4890 - juvenile myoclonic epilepsy
1011276	ankrd11	DOID:14780 - KBG syndrome
1011285	ddit3	DOID:5363 - myxoid liposarcoma
1011298	scn8a	DOID:0050709 - Ohtahara syndrome
1011369	ofd1	DOID:0060248 - Simpson-Golabi-Behmel syndrome|DOID:0060316 - orofaciodigital syndrome I
1011379	ppm1d	DOID:1612 - breast cancer
1011390	oprm1	DOID:1827 - idiopathic generalized epilepsy
1011398	sos1	DOID:0060466 - gingival fibromatosis|DOID:0060582 - Noonan syndrome 4
1011413	rgr	DOID:0110394 - retinitis pigmentosa 44
1011450	nrg1	DOID:0070082 - schizophrenia 6
1011463	rxfp2	DOID:11383 - cryptorchidism
1011543	slc1a1	DOID:0070093 - schizophrenia 18
1011572	tmprss6	DOID:11252 - microcytic anemia
1011597	pnp	DOID:5813 - purine nucleoside phosphorylase deficiency
1011609	vps53	DOID:0060271 - pontocerebellar hypoplasia type 2E
1011614	rgs9bp	DOID:0050335 - bradyopsia
1011627	tcf4	DOID:0060488 - Pitt-Hopkins syndrome
1011656	rdh5	DOID:11105 - fundus albipunctatus
1011698	gad1.1	DOID:10970 - spastic quadriplegia
1011733	glrb	DOID:0060696 - hyperekplexia 1
1011747	mttp.1	DOID:1386 - abetalipoproteinemia|DOID:14221 - metabolic syndrome X
1011782	efnb1	DOID:14737 - craniofrontonasal syndrome
1011795	fan1	DOID:0060911 - karyomegalic interstitial nephritis
1011803	tmem231	DOID:0110980 - Joubert syndrome 1|DOID:0110989 - Joubert syndrome 20
1011827	tspan12	DOID:0050535 - exudative vitreoretinopathy
1011869	c1qtnf5	DOID:0060869 - late-onset retinal degeneration
1011877	tecta.1	DOID:0110479 - autosomal recessive nonsyndromic deafness 21|DOID:0110544 - autosomal dominant nonsyndromic deafness 12
1011958	trim32	DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110282 - autosomal recessive limb-girdle muscular dystrophy type 2H
1011979	arhgap26	DOID:0050458 - juvenile myelomonocytic leukemia
1012023	lrrc8a	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:0050588 - muscular dystrophy-dystroglycanopathy
1012187	kcnj2	DOID:0050434 - Andersen-Tawil syndrome|DOID:0050793 - short QT syndrome
1012191	cog1	DOID:0050571 - congenital disorder of glycosylation type II
1012201	septin9	DOID:10383 - amyotrophic neuralgia
1012246	phex	DOID:0050445 - X-linked hypophosphatemic rickets
1012302	myo6	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
1012377	zfyve27	DOID:0110784 - hereditary spastic paraplegia 33
1012402	ano3	DOID:0090052 - dystonia 24
1012454	cacnb4	DOID:1827 - idiopathic generalized epilepsy
1012479	orc4	DOID:0060306 - Meier-Gorlin syndrome
1012536	efemp1	DOID:0060745 - Doyne honeycomb retinal dystrophy
1012539	stox1	DOID:10591 - pre-eclampsia
1012637	grk1	DOID:0110712 - Oguchi disease-1
1012658	herc2	DOID:11983 - Prader-Willi syndrome
1012701	kera	DOID:0060287 - cornea plana
1012721	atr	DOID:0070007 - Seckel syndrome 1
1012748	polr3a	DOID:0060794 - hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
1012758	rims1	DOID:0111012 - cone-rod dystrophy 7
1012795	abcc2	DOID:12308 - Dubin-Johnson syndrome
1012825	hsd11b2	DOID:0090121 - apparent mineralocorticoid excess
1012863	slc25a22	DOID:0050709 - Ohtahara syndrome|DOID:2481 - infantile epileptic encephalopathy
1012932	atp2a2	DOID:0050606 - acrokeratosis verruciformis|DOID:2734 - keratosis follicularis
1013017	dcdc2	DOID:4428 - dyslexia
1013035	cenpj	DOID:10907 - microcephaly
1013053	plcd1	DOID:0080081 - nonsyndromic congenital nail disorder 3
1013087	gan	DOID:0090068 - giant axonal neuropathy 1
1013199	ngf	DOID:0070145 - hereditary sensory and autonomic neuropathy type 5
1013330	slc25a13	DOID:9273 - citrullinemia
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 fiber-type disproportion|DOID:3529 - central core myopathy
1013528	efemp2	DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:3144 - cutis laxa
1013543	sbf1	DOID:0110194 - Charcot-Marie-Tooth disease type 4B3
1013576	pex13	DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome
1013590	kif1b	DOID:0050771 - phaeochromocytoma|DOID:0110154 - Charcot-Marie-Tooth disease type 2A1
1013606	ush1g	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: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
1013839	cacna1f	DOID:0050630 - Aland Island eye disease|DOID:0110871 - congenital stationary night blindness 2A|DOID:0111007 - X-linked cone-rod dystrophy 3
1013861	cdan1	DOID:1338 - congenital dyserythropoietic anemia
1013892	chrna2	DOID:0060685 - autosomal dominant nocturnal frontal lobe epilepsy 4
1013917	srgap1	DOID:3962 - follicular thyroid carcinoma
1013936	ccm2	DOID:0060670 - cerebral cavernous malformation 2
1013988	cyp2r1	DOID:10609 - rickets
1014030	arsa.2	DOID:10581 - metachromatic leukodystrophy
1014069	msh3	DOID:1380 - endometrial cancer
1014101	gucy2d	DOID:0110078 - Leber congenital amaurosis 1|DOID:0111010 - cone-rod dystrophy 5|DOID:0111011 - cone-rod dystrophy 6
1014190	snca	DOID:0060367 - autosomal dominant Parkinson disease 1|DOID:0060895 - autosomal dominant Parkinson disease 4|DOID:12217 - Lewy body dementia
1014201	braf	DOID:0060233 - cardiofaciocutaneous syndrome|DOID:0060578 - Noonan syndrome 1|DOID:1324 - lung cancer
1014217	ece1	DOID:10825 - essential hypertension
1014227	znf513	DOID:0110362 - retinitis pigmentosa 58
1014330	gtf2h5	DOID:2960 - photosensitive trichothiodystrophy
1014426	hint1	DOID:0050526 - Gamstorp-Wohlfart syndrome
1014459	arl13b	DOID:0111003 - Joubert syndrome 8
1014565	slc16a1	DOID:13317 - hyperinsulinemic hypoglycemia
1014656	lrpprc	DOID:3652 - Leigh disease
1014678	hprt1	DOID:1919 - Lesch-Nyhan syndrome
1014699	bloc1s3	DOID:0060539 - Hermansky-Pudlak syndrome 1
1014724	cask	DOID:0060807 - syndromic X-linked intellectual disability Najm type|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:0110086 - asphyxiating thoracic dystrophy 2
1014859	ispd	DOID:0050588 - muscular dystrophy-dystroglycanopathy
1014887	cdt1	DOID:0060306 - Meier-Gorlin syndrome
1014985	pex12	DOID:0050444 - infantile Refsum disease|DOID:10582 - Refsum disease
1015026	bcs1l	DOID:0050677 - Bjornstad syndrome|DOID:0080111 - mitochondrial complex III deficiency nuclear type 1|DOID:3652 - Leigh disease
1015056	slc20a2	DOID:0060230 - basal ganglia calcification
1015067	aptx	DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0050754 - ataxia with oculomotor apraxia type 1
1015081	b4galt1.2	DOID:0050571 - congenital disorder of glycosylation type II
1015142	rft1	DOID:0050570 - congenital disorder of glycosylation type I
1015190	rad51c	DOID:0111096 - Fanconi anemia complementation group O
1015380	tctn2	DOID:0070122 - Meckel syndrome 8|DOID:0110980 - Joubert syndrome 1
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:0110293 - autosomal recessive limb-girdle muscular dystrophy type 2P
1015786	tmem237	DOID:0110980 - Joubert syndrome 1|DOID:0110983 - Joubert syndrome 14
1015956	pik3r5	DOID:0060557 - ataxia with oculomotor apraxia type 3
1016002	cbfb	DOID:9119 - acute myeloid leukemia
1016012	psat1	DOID:0050723 - PSAT deficiency
1016045	pycr1	DOID:0070137 - autosomal recessive cutis laxa type IIB|DOID:3144 - cutis laxa
1016057	rpl35a	DOID:1339 - Diamond-Blackfan anemia
1016213	rps29	DOID:1339 - Diamond-Blackfan anemia
1016249	aspa	DOID:3613 - Canavan disease
1016349	sem1	DOID:0090021 - split hand-foot malformation 1
1016372	rps17	DOID:1339 - Diamond-Blackfan anemia
1016596	plekha1	DOID:0110014 - age related macular degeneration 1
1016617	pex2	DOID:0050444 - infantile Refsum disease|DOID:10582 - Refsum disease
1016740	xrcc3	DOID:1612 - breast cancer
1016829	zdhhc9	DOID:0060824 - syndromic X-linked intellectual disability Raymond type
1016880	rad51	DOID:1612 - breast cancer
1017029	litaf	DOID:0110151 - Charcot-Marie-Tooth disease type 1C
1017104	dyrk1a	DOID:0070037 - autosomal dominant non-syndromic intellectual disability 7
1018148	rag2	DOID:0060010 - Omenn syndrome|DOID:0090013 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
1018164	rb1	DOID:11054 - urinary bladder cancer|DOID:3347 - osteosarcoma|DOID:768 - retinoblastoma
1018212	calr	DOID:2224 - essential thrombocythemia|DOID:4971 - myelofibrosis
1018230	tbx3	DOID:0060614 - ulnar-mammary syndrome
1018295	fgfr2	DOID:0050331 - LADD syndrome|DOID:0050462 - Antley-Bixler syndrome|DOID:0050660 - Beare-Stevenson cutis gyrata syndrome|DOID:10534 - stomach cancer|DOID:12960 - acrocephalosyndactylia|DOID:14705 - Pfeiffer syndrome|DOID:14768 - Saethre-Chotzen syndrome|DOID:2339 - Crouzon syndrome
1018316	pth	DOID:11199 - hypoparathyroidism
1018321	msmb.1	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
1018490	ush1c	DOID:0110473 - autosomal recessive nonsyndromic deafness 18A|DOID:0110826 - Usher syndrome type 1|DOID:0110830 - Usher syndrome type 1C
1018553	fgfr1	DOID:0090083 - hypogonadotropic hypogonadism 2 with or without anosmia|DOID:14705 - Pfeiffer syndrome
1019570	npm1	DOID:9119 - acute myeloid leukemia
1020975	stat3.2	DOID:3261 - Job's syndrome
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:0111084 - Fanconi anemia complementation group E
1033685	ccdc88c	DOID:10908 - hydrocephalus
1033867	ptch2	DOID:0050902 - medulloblastoma|DOID:2512 - nevoid basal cell carcinoma syndrome|DOID:2513 - basal cell carcinoma
1034768	sox9	DOID:0050463 - campomelic dysplasia
1113171	pcdh19	DOID:0050709 - Ohtahara syndrome|DOID:0060848 - early infantile epileptic encephalopathy 9
1194371	foxh1	DOID:0110881 - holoprosencephaly 1
1214886	slc26a2.2	DOID:0050648 - atelosteogenesis|DOID:0080055 - achondrogenesis type IB|DOID:12721 - multiple epiphyseal dysplasia|DOID:14687 - diastrophic dysplasia
1216164	trim33	DOID:3969 - papillary thyroid carcinoma
1217436	gtf2i	DOID:1928 - Williams-Beuren syndrome
1217487	cel	DOID:0111105 - maturity-onset diabetes of the young type 8
1219003	pdgfrl.2	DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer
1219041	avpr2.2	DOID:12387 - nephrogenic diabetes insipidus
1219065	znf238.2	DOID:0070052 - autosomal dominant non-syndromic intellectual disability 22
1219320	krt12.5	DOID:0060451 - Meesmann corneal dystrophy
1221136	invs	DOID:0111113 - nephronophthisis 2
1221148	ift140	DOID:0110097 - short-rib thoracic dysplasia 9 with or without polydactyly
1221170	ift172	DOID:0110091 - short-rib thoracic dysplasia 10 with or without polydactyly
1221179	mks1	DOID:0070115 - Meckel syndrome 1|DOID:0110123 - Bardet-Biedl syndrome 1
1221197	cep290	DOID:0050576 - Senior-Loken syndrome|DOID:0070118 - Meckel syndrome 4|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110291 - Leber congenital amaurosis 10|DOID:0111000 - Joubert syndrome 5
1221321	gldc	DOID:9268 - glycine encephalopathy
5471042	prf1	DOID:0060060 - non-Hodgkin lymphoma|DOID:0110922 - familial hemophagocytic lymphohistiocytosis 2|DOID:12449 - aplastic anemia
5721344	wwox	DOID:5041 - esophageal cancer
5721916	tcirg1	DOID:0110942 - autosomal recessive osteopetrosis 1
5725314	cdk5rap2	DOID:10907 - microcephaly
5729290	dym	DOID:0060247 - Smith-McCort dysplasia|DOID:0111167 - Dyggve-Melchior-Clausen disease
5729601	krt50	DOID:4603 - epidermolytic hyperkeratosis
5730171	ndufa12	DOID:3652 - Leigh disease
5731974	tinf2	DOID:0070014 - autosomal dominant dyskeratosis congenita 1|DOID:0070026 - Revesz syndrome
5732457	slc19a3.2	DOID:0090117 - thiamine-responsive megaloblastic anemia syndrome
5732838	adh1b	DOID:0050741 - alcohol dependence
5732937	tulp1	DOID:0110381 - retinitis pigmentosa 14
5733928	csnk1d	DOID:0110012 - advanced sleep phase syndrome 2
5735053	lhfpl5	DOID:0110518 - autosomal recessive nonsyndromic deafness 67
5739414	crygb	DOID:0110236 - cataract 39 multiple types
5742861	fth1.1	DOID:0111031 - hemochromatosis type 5
5744487	mttp.2	DOID:1386 - abetalipoproteinemia|DOID:14221 - metabolic syndrome X
5747741	pfn1	DOID:0060209 - amyotrophic lateral sclerosis type 18
5749320	picalm.2	DOID:9119 - acute myeloid leukemia
5749882	maoa	DOID:0060693 - Brunner Syndrome
5751246	tgfbi	DOID:0060444 - granular corneal dystrophy type II|DOID:0060447 - epithelial basement membrane dystrophy|DOID:0060453 - Reis-Bucklers corneal dystrophy|DOID:0060455 - Thiel-Behnke corneal dystrophy
5752621	pdyn	DOID:0050973 - spinocerebellar ataxia type 23
5753572	gnrhr	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090091 - hypogonadotropic hypogonadism 23 with or without anosmia
5754722	cbs	DOID:9263 - homocystinuria
5755356	slc2a1	DOID:0090045 - childhood onset GLUT1 deficiency syndrome 2
5755862	mtmr14	DOID:14717 - centronuclear myopathy
5756124	cradd.2	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
5756230	cxcr1	DOID:635 - acquired immunodeficiency syndrome
5757853	brwd3	DOID:0050776 - non-syndromic X-linked intellectual disability
5759105	vcl	DOID:0110446 - dilated cardiomyopathy 1W
5759990	was	DOID:0050590 - severe congenital neutropenia|DOID:1588 - thrombocytopenia|DOID:9169 - Wiskott-Aldrich syndrome
5760120	myh2	DOID:3429 - inclusion body myositis
5760737	dyrk1a.2	DOID:0070037 - autosomal dominant non-syndromic intellectual disability 7
5760843	kansl1	DOID:0050880 - Koolen de Vries syndrome|DOID:0070076 - 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:0110087 - asphyxiating thoracic dystrophy 3
5762129	apcdd1	DOID:0110698 - hypotrichosis 1
5762326	pc.2	DOID:3651 - pyruvate carboxylase deficiency disease
5764341	l2hgdh	DOID:0050574 - L-2-hydroxyglutaric aciduria
5764717	sycp3	DOID:14227 - azoospermia
5764739	cyp2a6.7	DOID:1324 - lung cancer
5765248	rnf168	DOID:0090113 - RIDDLE syndrome
5765420	chek2	DOID:10283 - prostate cancer|DOID:1612 - breast cancer|DOID:3012 - Li-Fraumeni syndrome|DOID:3347 - osteosarcoma
5765473	g6pc	DOID:2749 - glycogen storage disease I
5765544	aldh18a1	DOID:0070132 - autosomal recessive cutis laxa type IIIA|DOID:3144 - cutis laxa
5766173	dkc1	DOID:0070025 - X-linked dyskeratosis congenita
5768571	lrrk2	DOID:0060371 - autosomal dominant Parkinson disease 8
5768779	slc6a8l	DOID:0050800 - creatine transporter deficiency
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:0110990 - Joubert syndrome 21
5771152	eef2.2	DOID:0050975 - spinocerebellar ataxia type 26
5771974	coa5	DOID:3762 - cytochrome-c oxidase deficiency disease
5777076	rit1	DOID:0060586 - Noonan syndrome 8
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
5781988	washc5	DOID:0110823 - hereditary spastic paraplegia 8
5784155	pet100	DOID:3762 - cytochrome-c oxidase deficiency disease
5784448	cth	DOID:0090142 - cystathioninuria
5784935	ddost	DOID:0050570 - congenital disorder of glycosylation type I
5786074	sigmar1	DOID:0060207 - amyotrophic lateral sclerosis type 16
5789581	rnf170	DOID:0111170 - autosomal dominant sensory ataxia 1
5793395	crybb3	DOID:0110268 - cataract 22 multiple types
5793916	ehmt1	DOID:0060352 - Kleefstra syndrome|DOID:0070075 - Kleefstra Syndrome
5796324	fancf	DOID:0111088 - Fanconi anemia complementation group F
5797082	abr	DOID:0050902 - medulloblastoma
5797457	fam83h	DOID:0110055 - amelogenesis imperfecta type 3
5797750	rhagl	DOID:0050641 - Rh deficiency syndrome
5798520	ftsj1	DOID:0050776 - non-syndromic X-linked intellectual disability
5799123	cc2d1a	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
5799149	gba2	DOID:0110798 - hereditary spastic paraplegia 46
5799693	tcf12	DOID:2340 - craniosynostosis
5799939	polr3b	DOID:0060794 - hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism|DOID:0060797 - hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
5805276	mrps16	DOID:0060286 - combined oxidative phosphorylation deficiency
5806704	cyp2a6.8	DOID:1324 - lung cancer
5809272	socs3l	DOID:0110100 - atopic dermatitis 4
5810263	tpx2	DOID:10283 - prostate cancer
5811282	otoa	DOID:0110480 - autosomal recessive nonsyndromic deafness 22
5811998	tmc6	DOID:13777 - epidermodysplasia verruciformis
5812146	dtnbp1	DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:5419 - schizophrenia
5812949	chmp1a	DOID:0060277 - pontocerebellar hypoplasia type 8
5813136	arl11l.1	DOID:1040 - chronic lymphocytic leukemia
5813242	dmd.3	DOID:0110461 - dilated cardiomyopathy 3B|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy
5813246	dmd.1	DOID:0110461 - dilated cardiomyopathy 3B|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy
5813350	elp1	DOID:11589 - Riley-Day syndrome
5814282	slc25a38	DOID:0060065 - pyridoxine-refractory autosomal recessive sideroblastic anemia
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:0110650 - long QT syndrome 9
5815522	cplx1	DOID:0050460 - Wolf-Hirschhorn syndrome
5815682	grhpr.2	DOID:2977 - primary hyperoxaluria
5817034	kcnq4	DOID:0110558 - autosomal dominant nonsyndromic deafness 2A
5818691	pgap1	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
5820823	wdpcp	DOID:0110123 - Bardet-Biedl syndrome 1
5821021	fam161a	DOID:0110365 - retinitis pigmentosa 28
5821574	cyp3a5	DOID:10825 - essential hypertension
5822251	satb2	DOID:0110213 - isolated cleft palate
5823873	cacna1s	DOID:14452 - hypokalemic periodic paralysis
5824648	mtrr	DOID:0080074 - neural tube defect
5825104	idh3b	DOID:0110409 - retinitis pigmentosa 46
5825461	pkp2	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
5829005	gp1bb	DOID:2217 - Bernard-Soulier syndrome
5830281	gad1.2	DOID:10970 - spastic quadriplegia
5830876	med25	DOID:0110179 - Charcot-Marie-Tooth disease type 2B2
5831951	rpgrip1l	DOID:0111002 - Joubert syndrome 7
5833231	uvssa	DOID:0060240 - UV-sensitive syndrome
5834443	tuba1cl.3	DOID:0050453 - lissencephaly
5836256	f13bl	DOID:2211 - factor XIII deficiency
5838515	ank1	DOID:0110916 - hereditary spherocytosis type 1
5838710	mlh1	DOID:0050465 - Muir-Torre syndrome|DOID:3883 - Lynch syndrome
5838912	guca1b	DOID:0110382 - retinitis pigmentosa 48
5839239	rad54b	DOID:0060060 - non-Hodgkin lymphoma
5839499	ahdc1	DOID:0070055 - Xia-Gibbs Syndrome
5839558	marveld2	DOID:0110506 - autosomal recessive nonsyndromic deafness 49
5840003	dnase1	DOID:9074 - systemic lupus erythematosus
5842911	dnajc19	DOID:0110000 - 3-methylglutaconic aciduria type 5
5843080	setd5	DOID:0070053 - autosomal dominant non-syndromic intellectual disability 23
5843767	prkcsh	DOID:0050770 - polycystic liver disease
5844203	akr1c2	DOID:14448 - 46 XY gonadal dysgenesis
5844483	trappc9	DOID:0050889 - non-syndromic intellectual disability
5847664	liph	DOID:0110704 - hypotrichosis 7
5848648	gpr143	DOID:0050633 - ocular albinism|DOID:9649 - congenital nystagmus
5848873	rs1	DOID:0060763 - X-linked juvenile retinoschisis 1
5848952	aprt	DOID:0060350 - adenine phosphoribosyltransferase deficiency
5849691	tmem38b	DOID:0110343 - osteogenesis imperfecta type 14
5850463	klhl41	DOID:0110929 - nemaline myopathy 9
5851600	hmmr	DOID:1612 - breast cancer
5852261	cradd.1	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
5852281	polr1d.2	DOID:2908 - Treacher Collins syndrome
5852382	alg13	DOID:0050570 - congenital disorder of glycosylation type I
5852767	ndufaf4	DOID:0060536 - mitochondrial complex I deficiency
5854282	phgdh	DOID:0050722 - PHGDH deficiency
5855161	sdhd	DOID:0050771 - phaeochromocytoma|DOID:0050773 - paraganglioma|DOID:0060537 - mitochondrial complex II deficiency|DOID:6457 - Cowden disease
5857190	gopc	DOID:14227 - azoospermia
5857401	gtf2ird1	DOID:1928 - Williams-Beuren syndrome
5858685	slc22a4	DOID:0110892 - inflammatory bowel disease 1|DOID:7148 - rheumatoid arthritis
5859300	tmem98	DOID:10629 - microphthalmia
5862161	mars2	DOID:0050942 - spastic ataxia 3
5862184	inf2	DOID:0110205 - Charcot-Marie-Tooth disease dominant intermediate E|DOID:0111130 - focal segmental glomerulosclerosis 5
5864291	col3a1	DOID:14756 - autosomal dominant type IV Ehlers-Danlos syndrome|DOID:14757 - type III Ehlers-Danlos syndrome
5865480	comt.2	DOID:5419 - schizophrenia|DOID:594 - panic disorder
5866499	crybb2	DOID:0110235 - cataract 2 multiple types|DOID:0110269 - cataract 3 multiple types
5867928	palb2	DOID:0111094 - Fanconi anemia complementation group N|DOID:1612 - breast cancer
5867970	kcnd3	DOID:0050970 - spinocerebellar ataxia type 19/22
5868351	spg11	DOID:0110764 - hereditary spastic paraplegia 11
5868905	cox1	DOID:3687 - MELAS syndrome
5869910	gosr2	DOID:891 - progressive myoclonus epilepsy
5870366	vamp1	DOID:0050772 - spastic ataxia 1
5870377	slc6a19	DOID:1060 - Hartnup disease
5870536	mcm6	DOID:10604 - lactose intolerance
5871551	cyp27a1	DOID:4810 - cerebrotendinous xanthomatosis
5871696	c9orf72	DOID:0060213 - FTDALS1
5871723	b4galt1.1	DOID:0050571 - congenital disorder of glycosylation type II
5872333	nhs	DOID:0060599 - Nance-Horan syndrome
5873170	cst3	DOID:0070027 - CST3-related cerebral amyloid angiopathy|DOID:0110023 - age related macular degeneration 11
5873780	man1b1	DOID:0050889 - non-syndromic intellectual disability
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
5878273	tgm6	DOID:0050982 - spinocerebellar ataxia type 35
5879292	dlx3	DOID:0110053 - amelogenesis imperfecta type 4
5879818	ahi1	DOID:0110998 - Joubert syndrome 3
5879909	nop56	DOID:0050983 - spinocerebellar ataxia type 36
5886291	tubb3	DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0090137 - complex cortical dysplasia with other brain malformations 1
5886875	tctn1	DOID:0110982 - Joubert syndrome 13
5887238	kcne3	DOID:14452 - hypokalemic periodic paralysis
5887532	dnaaf2	DOID:0110612 - primary ciliary dyskinesia 10
5888636	ctnnd2	DOID:12580 - Cri-Du-Chat syndrome
5889202	ttll5	DOID:0111025 - cone-rod dystrophy 19
5889577	cyp4f22	DOID:0060714 - autosomal recessive congenital ichthyosis 5
5892299	cyp2a6.2	DOID:1324 - lung cancer
5892316	kiz	DOID:0110410 - retinitis pigmentosa 69
5894592	septin12	DOID:14227 - azoospermia
5894879	hfm1	DOID:5426 - premature ovarian failure
5894897	c7	DOID:0060300 - complement component 7 deficiency
5895372	ccdc78	DOID:14717 - centronuclear myopathy
5895777	cdkal1	DOID:9352 - type 2 diabetes mellitus
5895887	akr1c4	DOID:14448 - 46 XY gonadal dysgenesis
5896601	foxred1	DOID:0060536 - mitochondrial complex I deficiency|DOID:3652 - Leigh disease
5896976	cyp7b1	DOID:0110810 - hereditary spastic paraplegia 5A
5898520	sil1	DOID:0080195 - Marinesco-Sjogren syndrome
5901653	wnt7a	DOID:0090067 - Fuhrmann syndrome
5902234	dnaaf5	DOID:0110604 - primary ciliary dyskinesia 18
5903817	stac3	DOID:0060346 - Native American myopathy
5903933	cyp2a6.1	DOID:1324 - lung cancer
5903983	cyp2a6.3	DOID:1324 - lung cancer
5906944	ctsd	DOID:0110725 - neuronal ceroid lipofuscinosis 10
5907113	tsen2	DOID:0060268 - pontocerebellar hypoplasia type 2B
5909077	alox12b	DOID:0060710 - autosomal recessive congenital ichthyosis 2|DOID:1699 - congenital ichthyosiform erythroderma
5909176	cc2d2a	DOID:0070120 - Meckel syndrome 6|DOID:0111004 - Joubert syndrome 9
5909248	ift43	DOID:0080033 - craniometaphyseal dysplasia
5910007	chuk	DOID:0060647 - cocoon syndrome
5910167	nlrp3	DOID:0090029 - CINCA Syndrome|DOID:0090062 - familial cold autoinflammatory syndrome 1
5910330	irf6.2	DOID:0060055 - popliteal pterygium syndrome|DOID:0060239 - Van der Woude syndrome
5910468	cfap298	DOID:0110627 - primary ciliary dyskinesia 26
5911792	mogs	DOID:0050571 - congenital disorder of glycosylation type II
5913943	myo1e.2	DOID:0111131 - focal segmental glomerulosclerosis 6
5914007	mbd5	DOID:0070031 - autosomal dominant non-syndromic intellectual disability 1
5914212	washc4	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
5914423	sema4a	DOID:0110357 - retinitis pigmentosa 35|DOID:0111017 - cone-rod dystrophy 10
5914699	l1cam	DOID:0060246 - MASA syndrome|DOID:10908 - hydrocephalus
5915560	diablo	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
5918040	pklr	DOID:0111077 - pyruvate kinase deficiency of red cells
5918221	tfe3	DOID:4465 - papillary renal cell carcinoma
5918289	hmbs	DOID:3890 - acute intermittent porphyria
5918475	gcgr	DOID:9352 - type 2 diabetes mellitus
5918488	cat.1	DOID:2582 - acatalasia
5918717	usf1	DOID:13809 - familial combined hyperlipidemia
5918937	mllt11	DOID:0050458 - juvenile myelomonocytic leukemia
5918987	sqstm1	DOID:5408 - Paget's disease of bone
5919505	kcnj5	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
5929083	ada.2	DOID:5810 - adenosine deaminase deficiency
5930956	lct.1	DOID:10604 - lactose intolerance
5931109	hps5	DOID:0060539 - Hermansky-Pudlak syndrome 1
5931147	trappc11	DOID:0110287 - autosomal recessive limb-girdle muscular dystrophy type 2S
5932066	chrna1.2	DOID:0080110 - multiple pterygium syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A
5932309	kif4a	DOID:0050776 - non-syndromic X-linked intellectual disability
5932623	tsen34	DOID:0060269 - pontocerebellar hypoplasia type 2C
5933521	dctn1	DOID:0060193 - amyotrophic lateral sclerosis type 1
5933879	primpol	DOID:11830 - myopia
5934130	alg11	DOID:0050570 - congenital disorder of glycosylation type I
5934500	kif1bp	DOID:0060481 - Goldberg-Shprintzen syndrome
5935910	trip11	DOID:0080054 - achondrogenesis type IA
5935961	lamb2	DOID:0060852 - Pierson syndrome
5936528	rgs9bp	DOID:0050335 - bradyopsia
5938587	erbb2	DOID:10534 - stomach cancer|DOID:1324 - lung cancer|DOID:3070 - malignant glioma
5940570	cryaa	DOID:0110266 - cataract 9 multiple types
5940578	fuca1	DOID:14500 - fucosidosis
5941074	rsph9	DOID:0110601 - primary ciliary dyskinesia 12
5941572	hars2	DOID:0050857 - Perrault syndrome
5942578	rfx5	DOID:5812 - MHC class II deficiency
5943020	stx16	DOID:4184 - pseudohypoparathyroidism
5943044	tmem216	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
5945263	cox6b1	DOID:3762 - cytochrome-c oxidase deficiency disease
5945699	rsph1	DOID:0110628 - primary ciliary dyskinesia 24
5945764	obsl1	DOID:0060241 - 3-M syndrome
5947962	wrap53	DOID:0070019 - autosomal recessive dyskeratosis congenita 3
5949004	gabrg2	DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0060171 - Dravet syndrome|DOID:2481 - infantile epileptic encephalopathy
5950100	col4a2	DOID:0060263 - porencephaly
5950161	itga2b.2	DOID:0060691 - platelet-type bleeding disorder 16|DOID:2219 - Glanzmann's thrombasthenia
5952676	ca4	DOID:0110404 - retinitis pigmentosa 17
5953133	rbbp8	DOID:0070013 - Seckel syndrome 2
5953275	cfi	DOID:0050419 - complement factor I deficiency|DOID:0110025 - age related macular degeneration 13
5953720	chkb	DOID:0110632 - megaconial type congenital muscular dystrophy
5953769	akap9	DOID:0110652 - long QT syndrome 11
5953795	pnkp	DOID:0050709 - Ohtahara syndrome|DOID:2481 - infantile epileptic encephalopathy
5954540	myh8	DOID:0050471 - Carney complex|DOID:0050646 - distal arthrogryposis
5954566	col5a1	DOID:14720 - type I Ehlers-Danlos syndrome
5954969	prkaca	DOID:0060280 - primary pigmented nodular adrenocortical disease
5955935	rgs9	DOID:0050335 - bradyopsia
5957240	clcn5	DOID:0050445 - X-linked hypophosphatemic rickets|DOID:0050699 - Dent disease
5957306	gnptab	DOID:0080070 - inclusion-cell disease|DOID:0080071 - pseudo-Hurler polydystrophy
5957472	tbc1d24.2	DOID:0110532 - autosomal recessive nonsyndromic deafness 86
5958093	dis3l2	DOID:0060476 - Perlman syndrome
5958699	mkrn3	DOID:11983 - Prader-Willi syndrome
5959462	arsa.1	DOID:10581 - metachromatic leukodystrophy
5960334	fermt1	DOID:0060472 - Kindler syndrome
5960545	cyp2a6.6	DOID:1324 - lung cancer
5961451	c6.1	DOID:0060299 - complement component 6 deficiency
5961868	ndufa13	DOID:0060536 - mitochondrial complex I deficiency|DOID:8161 - thyroid Hurthle cell carcinoma
5961969	slc5a2	DOID:9432 - renal glycosuria
5961993	krt12.1	DOID:4644 - epidermolysis bullosa simplex
5962007	chchd10	DOID:0060214 - FTDALS2
5962522	bbs12	DOID:0110123 - Bardet-Biedl syndrome 1
5962553	fancg	DOID:0111086 - Fanconi anemia complementation group G
5963240	cd40	DOID:0060023 - CD40 deficiency
5966550	thra	DOID:0070128 - congenital nongoitrous hypothryoidism 6
5966956	acsl4	DOID:0050776 - non-syndromic X-linked intellectual disability
5967063	drc1	DOID:0110596 - primary ciliary dyskinesia 21
5969094	oat	DOID:1415 - gyrate atrophy
5969670	anks6	DOID:0111124 - nephronophthisis 16
5969736	cisd2	DOID:0110630 - Wolfram syndrome 2
5969936	phka1	DOID:0111040 - glycogen storage disease IXd
5992932	nsd3	DOID:9119 - acute myeloid leukemia
5993002	kcnt1	DOID:0050709 - Ohtahara syndrome|DOID:0060686 - autosomal dominant nocturnal frontal lobe epilepsy 5
5994597	chrna4	DOID:0060682 - autosomal dominant nocturnal frontal lobe epilepsy 1
5995151	smad4.2	DOID:0050787 - juvenile polyposis syndrome|DOID:4905 - pancreatic carcinoma
5995329	diaph1	DOID:0110541 - autosomal dominant nonsyndromic deafness 1
5995516	gatad2b	DOID:0070048 - autosomal dominant non-syndromic intellectual disability 18
5997713	trappc9.2	DOID:0050889 - non-syndromic intellectual disability
5998209	plekhg4	DOID:0050980 - spinocerebellar ataxia type 31
5999892	pde11a	DOID:0060280 - primary pigmented nodular adrenocortical disease
6000360	dmbt1	DOID:0050902 - medulloblastoma|DOID:3070 - malignant glioma
6000856	krt78.5	DOID:0050449 - pachyonychia congenita
6030742	gabrb3	DOID:1826 - epilepsy
6030767	naglu	DOID:12801 - mucopolysaccharidosis III
6031017	inpp5el	DOID:0110980 - Joubert syndrome 1
6031033	pde6h	DOID:0050795 - cone dystrophy
6031109	tet2	DOID:0050908 - myelodysplastic syndrome
6031140	prrt2	DOID:0090053 - episodic kinesigenic dyskinesia 1
6031645	steap3	DOID:0050642 - hypochromic microcytic anemia
6031728	ndufaf2	DOID:0060536 - mitochondrial complex I deficiency|DOID:3652 - Leigh disease
6031745	ttn	DOID:0110283 - autosomal recessive limb-girdle muscular dystrophy type 2J|DOID:0110430 - dilated cardiomyopathy 1G|DOID:0111078 - tibial muscular dystrophy
6032475	col5a2	DOID:14720 - type I Ehlers-Danlos syndrome
6032644	myo3a	DOID:0110489 - autosomal recessive nonsyndromic deafness 30
6032684	rp1	DOID:0110390 - retinitis pigmentosa 1|DOID:1172 - hyperlipoproteinemia type IV
6032790	slc52a3	DOID:0050694 - Brown-Vialetto-Van Laere syndrome
6033421	aloxe3	DOID:0060710 - autosomal recessive congenital ichthyosis 2|DOID:1699 - congenital ichthyosiform erythroderma
6033728	plekhm1	DOID:0110945 - autosomal recessive osteopetrosis 6
6033759	colq	DOID:0110667 - congenital myasthenic syndrome 5
6034035	spg7	DOID:0110816 - hereditary spastic paraplegia 7
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 non-syndromic intellectual disability
6034961	kif7	DOID:0050779 - hydrolethalus syndrome|DOID:9250 - acrocallosal syndrome
6035125	szt2	DOID:0050709 - Ohtahara syndrome
6035210	otogl2	DOID:0110474 - autosomal recessive nonsyndromic deafness 18B
6035279	cerkl	DOID:0110368 - retinitis pigmentosa 26
6035308	p2rx1	DOID:0060692 - platelet-type bleeding disorder 8
6035340	rmnd1	DOID:0060286 - combined oxidative phosphorylation deficiency
6035450	traf3ip2	DOID:2058 - chronic mucocutaneous candidiasis
6035541	cngb3	DOID:0050817 - Stargardt disease|DOID:0110008 - achromatopsia 3
6035709	cep164	DOID:0111123 - nephronophthisis 15
6035761	iqsec2	DOID:0050776 - non-syndromic X-linked intellectual disability
6035797	glra1	DOID:0060696 - hyperekplexia 1
6035929	rtel1	DOID:0070020 - autosomal dominant dyskeratosis congenita 4|DOID:0070022 - autosomal recessive dyskeratosis congenita 5
6036031	atp8a2	DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome
6036139	alg9	DOID:0050570 - congenital disorder of glycosylation type I
6036228	kras	DOID:0050469 - Costello syndrome|DOID:0060581 - Noonan syndrome 3|DOID:10534 - stomach cancer|DOID:11054 - urinary bladder cancer|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:4905 - pancreatic carcinoma|DOID:9119 - acute myeloid leukemia
6037400	kcna5	DOID:0050650 - familial atrial fibrillation
6037406	scn5a	DOID:0110218 - Brugada syndrome 1|DOID:0110433 - dilated cardiomyopathy 1E|DOID:0110646 - long QT syndrome 3|DOID:0111074 - progressive familial heart block type IA|DOID:13884 - sick sinus syndrome
6037471	dok7	DOID:0110668 - congenital myasthenic syndrome 10
6037688	gpc6	DOID:0060288 - omodysplasia
6038557	msrb3	DOID:0110523 - autosomal recessive nonsyndromic deafness 74
6038809	nbeal2	DOID:0111044 - gray platelet syndrome
6041029	adh1c	DOID:0050741 - alcohol dependence|DOID:14330 - Parkinson's disease
6041251	cox20	DOID:3762 - cytochrome-c oxidase deficiency disease
6041437	pjvk	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	c1orf84	DOID:0050709 - Ohtahara syndrome
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
6041968	arfgef2	DOID:0050454 - periventricular nodular heterotopia
6042489	grxcr1	DOID:0110483 - autosomal recessive nonsyndromic deafness 25
6043632	camta1	DOID:0050998 - nonprogressive cerebellar atxia with mental retardation
6043717	p2rx2	DOID:0110567 - autosomal dominant nonsyndromic deafness 41
6044144	ankrd26	DOID:1588 - thrombocytopenia
6044384	mtmr2	DOID:0110191 - Charcot-Marie-Tooth disease type 4B1
6044513	muc5b	DOID:0050156 - idiopathic pulmonary fibrosis
6044680	atp7b	DOID:893 - Wilson disease
6044812	clrn1	DOID:0110841 - Usher syndrome type 3A|DOID:10584 - retinitis pigmentosa
6044837	flna	DOID:0050454 - periventricular nodular heterotopia
6045054	kcne2	DOID:0050650 - familial atrial fibrillation
6045608	krt15.1	DOID:0050448 - hereditary mucosal leukokeratosis
6045752	plcb1	DOID:0050709 - Ohtahara syndrome|DOID:2481 - infantile epileptic encephalopathy
6045768	med13l	DOID:0060771 - dextro-looped transposition of the great arteries 1
6045811	ehbp1	DOID:10283 - prostate cancer
6046061	itgam	DOID:9074 - systemic lupus erythematosus
6046301	tpm3	DOID:0080102 - congenital fiber-type disproportion|DOID:0110927 - nemaline myopathy 3
6046830	padi4	DOID:7148 - rheumatoid arthritis
6046858	gipc3	DOID:0110470 - autosomal recessive nonsyndromic deafness 15
6046916	notch2	DOID:9245 - Alagille syndrome
6047254	fig4	DOID:0110184 - Charcot-Marie-Tooth disease type 4J
6047372	kcnq2	DOID:14264 - benign neonatal seizures
6047526	klhl10	DOID:14227 - azoospermia
6047578	pts	DOID:0090106 - Bh4-deficient hyperphenylalaninemia A
6047949	ttc21b	DOID:0110088 - asphyxiating thoracic dystrophy 4|DOID:0110980 - Joubert syndrome 1|DOID:0111119 - nephronophthisis 12
6048227	col9a1	DOID:12721 - multiple epiphyseal dysplasia
6048313	slc9a6	DOID:0060825 - Christianson syndrome
6049176	arse	DOID:0060292 - X-linked chondrodysplasia punctata
6049377	slc39a4	DOID:0050605 - acrodermatitis enteropathica
6049396	dchs1	DOID:0060238 - Van Maldergem syndrome
6049694	clcnkb	DOID:0110144 - Bartter disease type 3|DOID:0110145 - Bartter disease type 4a
6049718	tfr2	DOID:0111030 - hemochromatosis type 3
6049795	pdzd7	DOID:0110838 - Usher syndrome type 2A|DOID:0110839 - Usher syndrome type 2C
6050068	grik2	DOID:0060308 - autosomal recessive non-syndromic intellectual disability
6050594	wdr60	DOID:0110094 - short-rib thoracic dysplasia 8 with or without polydactyly
6050615	grxcr2	DOID:0110462 - autosomal recessive nonsyndromic deafness 101
6050977	tspear	DOID:0110540 - autosomal recessive nonsyndromic deafness 98
6051084	prss56	DOID:0060835 - isolated microphthalmia 6
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:0110256 - cataract 21 multiple types
6053329	raf1	DOID:0060583 - Noonan syndrome 5|DOID:14291 - LEOPARD syndrome
6054130	gaa	DOID:2752 - glycogen storage disease II
6054494	ptpn11	DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0060578 - Noonan syndrome 1|DOID:14291 - LEOPARD syndrome
6065246	casr	DOID:0060700 - familial hypocalciuric hypercalcemia 1|DOID:11199 - hypoparathyroidism
6065291	rtn4r	DOID:5419 - schizophrenia
6067151	egfr	DOID:1324 - lung cancer
6067220	pik3r1	DOID:2583 - agammaglobulinemia
6070708	thrb	DOID:11633 - thyroid hormone resistance syndrome
6071380	tpm2	DOID:0050646 - distal arthrogryposis|DOID:0080102 - congenital fiber-type disproportion|DOID:0110927 - nemaline myopathy 3
6072919	pdgfra	DOID:9253 - gastrointestinal stromal tumor
6073788	hars	DOID:0110842 - Usher syndrome type 3B
6074534	abcc9	DOID:0110451 - dilated cardiomyopathy 1O
6074544	gjb4	DOID:0050467 - erythrokeratodermia variabilis
6074555	casq2	DOID:0060675 - catecholaminergic polymorphic ventricular tachycardia 1|DOID:0060676 - catecholaminergic polymorphic ventricular tachycardia 2
6074616	ubb	DOID:0110213 - isolated cleft palate
6076449	dysf	DOID:0110276 - autosomal recessive limb-girdle muscular dystrophy type 2B|DOID:11720 - distal muscular dystrophy
6076512	lrit3	DOID:0110864 - congenital stationary night blindness 1F
6076867	sh2d1a	DOID:0060705 - X-linked lymphoproliferative syndrome 1
6077305	ccnd1	DOID:1040 - chronic lymphocytic leukemia|DOID:14175 - von Hippel-Lindau disease|DOID:9538 - multiple myeloma
6084256	sco1	DOID:3762 - cytochrome-c oxidase deficiency disease
6084576	kcnj11	DOID:0060334 - transient neonatal diabetes mellitus|DOID:0060639 - permanent neonatal diabetes mellitus|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
6085853	clcn1	DOID:2106 - myotonia congenita
6085897	nras	DOID:0111162 - epidermal nevus|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
6096144	pdgfrb	DOID:0060230 - basal ganglia calcification|DOID:0080109 - infantile myofibromatosis
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
6257495	mpdu1	DOID:0050570 - congenital disorder of glycosylation type I
6257735	lrtomt	DOID:0110515 - autosomal recessive nonsyndromic deafness 63
6257884	crygs	DOID:0110240 - cataract 20 multiple types
6257977	nup62	DOID:4751 - striatonigral degeneration
6258052	mad1l1	DOID:10283 - prostate cancer
6258063	npc2	DOID:0070114 - Niemann-Pick disease type C2
6258113	dnaaf3	DOID:0110626 - primary ciliary dyskinesia 2
6258120	ttc19	DOID:0060351 - mitochondrial complex III deficiency nuclear type 2
6258150	ada2	DOID:13096 - Sneddon syndrome
6258172	hmga2	DOID:13223 - uterine fibroid
6258196	rps14	DOID:0090016 - chromosome 5q deletion syndrome
6258208	max	DOID:0050771 - phaeochromocytoma
6258220	wdr81	DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome
6258278	kiaa0319	DOID:4428 - dyslexia
6258281	ighmbp2	DOID:0111064 - autosomal recessive distal spinal muscular atrophy 1
6258322	tsg101	DOID:1612 - breast cancer
6258352	col2a1	DOID:0080026 - otospondylomegaepiphyseal dysplasia|DOID:0080028 - spondyloepimetaphyseal dysplasia, Strudwick type|DOID:0080046 - Stickler syndrome|DOID:0080056 - achondrogenesis type II|DOID:14415 - Legg-Calve-Perthes disease|DOID:14789 - spondyloepiphyseal dysplasia congenita
6258364	epb42	DOID:0110920 - hereditary spherocytosis type 5
6258369	sgca	DOID:0110278 - autosomal recessive limb-girdle muscular dystrophy type 2D
6258378	col1a1	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 - type I Ehlers-Danlos syndrome|DOID:4257 - Caffey disease
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
6258536	ewsr1	DOID:3369 - Ewing sarcoma
6258571	hmcn1	DOID:0110014 - age related macular degeneration 1
6258602	diaph2	DOID:5426 - premature ovarian failure
6258656	gnat2	DOID:0110010 - achromatopsia 4
6258722	crebbp	DOID:1933 - Rubinstein-Taybi syndrome
6258789	angptl3	DOID:0111061 - familial hypobetalipoproteinemia 2
6258822	calr3	DOID:0110325 - hypertrophic cardiomyopathy 19
6258828	coa7	DOID:3762 - cytochrome-c oxidase deficiency disease
6258853	vapb	DOID:0050752 - amyotrophic lateral sclerosis type 8
6259083	numa1	DOID:0060318 - acute promyelocytic leukemia
6259094	tufm	DOID:0060286 - combined oxidative phosphorylation deficiency
6259138	hmx1	DOID:0060482 - oculoauricular syndrome
6408099	mllt10	DOID:9119 - acute myeloid leukemia
6447551	scn2a	DOID:0060169 - benign familial infantile epilepsy|DOID:0060170 - generalized epilepsy with febrile seizures plus
6449529	chrnb1	DOID:0110663 - congenital myasthenic syndrome 1A|DOID:0110679 - congenital myasthenic syndrome 4C
6449943	pcnt	DOID:0060609 - microcephalic osteodysplastic primordial dwarfism type II
6450007	notch3	DOID:0080109 - infantile myofibromatosis|DOID:0111035 - CADASIL 1
6451171	kiss1	DOID:0090073 - hypogonadotropic hypogonadism 13 with or without anosmia
6451229	btk	DOID:0060875 - isolated growth hormone deficiency type III|DOID:14179 - Bruton-type 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:9119 - acute myeloid leukemia
6451484	col4a1	DOID:0060263 - porencephaly|DOID:0090125 - COL4A1-related familial vascular leukoencephalopathy
6451493	col6a3	DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy
6453026	slc22a18	DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:3246 - embryonal rhabdomyosarcoma
6453364	hamp	DOID:0111032 - hemochromatosis type 2B
6453388	surf1	DOID:3652 - Leigh disease
6453443	galt	DOID:9870 - galactosemia
6453553	enam	DOID:0110052 - amelogenesis imperfecta type 1B
6453898	brca2	DOID:0050902 - medulloblastoma|DOID:0111089 - Fanconi anemia complementation group D1|DOID:10283 - prostate cancer|DOID:1612 - breast cancer|DOID:2154 - nephroblastoma
6454231	edn3	DOID:0060731 - congenital central hypoventilation syndrome|DOID:0110953 - Waardenburg syndrome type 4A
6454243	gdf6	DOID:0060836 - isolated microphthalmia 4|DOID:0110217 - Leber congenital amaurosis 17|DOID:10426 - Klippel-Feil syndrome|DOID:10629 - microphthalmia
6455903	irs2	DOID:9352 - type 2 diabetes mellitus
6455951	mpv17	DOID:0080125 - mitochondrial DNA depletion syndrome 6|DOID:0080126 - mitochondrial DNA depletion syndrome 7
6456352	nrl	DOID:0110397 - retinitis pigmentosa 27
6456536	hexa	DOID:3320 - Tay-Sachs disease
6456839	selenon	DOID:0080102 - congenital fiber-type disproportion|DOID:0110633 - rigid spine muscular dystrophy 1
6457313	ebp	DOID:0060292 - X-linked chondrodysplasia punctata
6457433	pqbp1	DOID:0060179 - Renpenning syndrome
6457545	gba	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:12217 - Lewy body dementia|DOID:14330 - Parkinson's disease
6457591	cyc1	DOID:0080115 - mitochondrial complex III deficiency nuclear type 6
6457635	uqcrb	DOID:0080112 - mitochondrial complex III deficiency nuclear type 3
6457661	timmdc1	DOID:0060536 - mitochondrial complex I deficiency
6457718	poglut1	DOID:0060256 - Dowling-Degos disease
6458118	dtna	DOID:0060480 - left ventricular noncompaction
6458530	prg4	DOID:0090127 - camptodactyly-arthropathy-coxa vara-pericarditis syndrome
6458552	znf469	DOID:14775 - brittle cornea syndrome
6458565	zmynd15	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
6459020	dnai1	DOID:0110594 - primary ciliary dyskinesia 1
6459156	nup214	DOID:9119 - acute myeloid leukemia
6459210	trdn	DOID:0060675 - catecholaminergic polymorphic ventricular tachycardia 1|DOID:0060679 - catecholaminergic polymorphic ventricular tachycardia 5
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
6459671	sfxn4	DOID:0060286 - combined oxidative phosphorylation deficiency
6459771	myh11	DOID:14004 - thoracic aortic aneurysm
6459862	il17ra	DOID:2058 - chronic mucocutaneous candidiasis
6460075	foxp3	DOID:0090110 - immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome|DOID:9744 - type 1 diabetes mellitus
6460426	mamld1	DOID:10892 - hypospadias
6460748	adamts17	DOID:0050475 - Weill-Marchesani syndrome
6461261	aire	DOID:0050167 - autoimmune polyendocrine syndrome type 1
6461968	rnaseh2c	DOID:0050629 - Aicardi-Goutieres syndrome
6462315	cox8a	DOID:3762 - cytochrome-c oxidase deficiency disease
6462343	cytb	DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6462438	eda	DOID:0050591 - tooth agenesis|DOID:14793 - hypohidrotic ectodermal dysplasia
6462925	ccdc141	DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia
6464188	pnpla1	DOID:0060719 - autosomal recessive congenital ichthyosis 10
6464201	c8orf37	DOID:0111022 - cone-rod dystrophy 16|DOID:10584 - retinitis pigmentosa
6464268	ddx3y	DOID:14227 - azoospermia
6464667	ucp3	DOID:9970 - obesity
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
6465713	gnmt	DOID:0111037 - glycine N-methyltransferase deficiency
6466715	nd1	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
6467523	loxhd1	DOID:0110525 - autosomal recessive nonsyndromic deafness 77
6467920	col17a1	DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type
6468378	sftpa1	DOID:0050156 - idiopathic pulmonary fibrosis
6468586	myh14	DOID:0110573 - autosomal dominant nonsyndromic deafness 4A
6468755	col10a1	DOID:0080021 - Schmid metaphyseal chondrodysplasia
6485440	terc	DOID:0070014 - autosomal dominant dyskeratosis congenita 1
6485444	atp6	DOID:705 - Leber hereditary optic neuropathy
6485457	cox3	DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6485476	nd5	DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6485486	nd2	DOID:705 - Leber hereditary optic neuropathy
6485500	nd4	DOID:705 - Leber hereditary optic neuropathy
6485504	nd6	DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy
6485508	nd4l	DOID:705 - Leber hereditary optic neuropathy
6489425	tyrobp	DOID:0090112 - Nasu-Hakola disease
6489512	krt12.6	DOID:0060451 - Meesmann corneal dystrophy
6492031	tcof1	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:0050428 - nonepidermolytic palmoplantar keratoderma|DOID:0050449 - pachyonychia congenita
6539689	krt12.4	DOID:0060451 - Meesmann corneal dystrophy
6540413	mmp13	DOID:0080030 - spondyloepimetaphyseal dysplasia, Missouri type
12531593	cdh1	DOID:10283 - prostate cancer|DOID:10534 - stomach cancer|DOID:1380 - endometrial cancer|DOID:1612 - breast cancer
12563712	pcare	DOID:0110364 - retinitis pigmentosa 54
12564474	glis2	DOID:0111116 - nephronophthisis 7
12564498	col11a2	DOID:0060465 - fibrochondrogenesis|DOID:0080026 - otospondylomegaepiphyseal dysplasia|DOID:0080046 - Stickler syndrome|DOID:0110509 - autosomal recessive nonsyndromic deafness 53|DOID:0110545 - autosomal dominant nonsyndromic deafness 13
12565276	cox14	DOID:3762 - cytochrome-c oxidase deficiency disease
13579838	c12orf65	DOID:0060286 - combined oxidative phosphorylation deficiency
13579896	blk	DOID:0111109 - maturity-onset diabetes of the young type 11
18034121	rho.2	DOID:0110862 - congenital stationary night blindness autosomal dominant 1|DOID:11105 - fundus albipunctatus
18386060	cyp27a1.3	DOID:4810 - cerebrotendinous xanthomatosis
22041687	cat.3	DOID:2582 - acatalasia
22041739	otog	DOID:0110474 - autosomal recessive nonsyndromic deafness 18B
22060528	g6pc.3	DOID:2749 - glycogen storage disease I
22060943	krt12.3	DOID:0060451 - Meesmann corneal dystrophy
22062172	slc26a3.3	DOID:0060296 - congenital secretory chloride diarrhea 1
22062176	slc26a4.1	DOID:0050332 - enlarged vestibular aqueduct|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4
22062180	slc26a4.2	DOID:0050332 - enlarged vestibular aqueduct|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
22063720	fam20a.2	DOID:0110066 - amelogenesis imperfecta type 1G
22063821	tuba1a	DOID:0050453 - lissencephaly
22064172	cyp2a6.10	DOID:1324 - lung cancer
22064220	cyp2a6.12	DOID:1324 - lung cancer
22064352	cyp2a6.11	DOID:1324 - lung cancer
22064356	cyp2a6.4	DOID:1324 - lung cancer
22064359	cyp2a6.5	DOID:1324 - lung cancer
22064560	fth1.2	DOID:0111031 - hemochromatosis type 5
