TaoMedAI/RareMedData huggingface dataset:
Gene: CAPN3
Disease: Calpain-3-related limb-girdle muscular dystrophy D4; LGMD type D4; LGMD1I; Limb-girdle muscular dystrophy type D4 (ORPHA:565909)
Association type: UNKNOWN
Gene: CYP11B1
Disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY (OMIM:202010)
Association type: MENDELIAN
Gene: CYP11B1
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Association type: MENDELIAN
Gene: CYP11B1
Disease: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; CAH due to 11-beta-hydroxylase deficiency; CYP11B1 deficiency (ORPHA:90795)
Association type: UNKNOWN
Gene: CYP11B1
Disease: Familial hyperaldosteronism type I; Dexamethasone-sensitive hypertension; FH-I; FH1; Familial hyperaldosteronism type 1; GRA; Glucocorticoid-remediable aldosteronism; Glucocorticoid-sensitive hypertension (ORPHA:403)
Association type: UNKNOWN
Gene: PIGV
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Association type: MENDELIAN
Gene: PIGV
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PIGV
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PIGV
Disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Association type: UNKNOWN
Gene: SGCD
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 (OMIM:601287)
Association type: MENDELIAN
Gene: SGCD
Disease: CARDIOMYOPATHY, DILATED, 1L (OMIM:606685)
Association type: MENDELIAN
Gene: SGCD
Disease: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6; Autosomal recessive limb-girdle muscular dystrophy type 2F; Delta-sarcoglycan-related LGMD R6; Delta-sarcoglycanopathy; LGMD due to delta-sarcoglycan deficiency; LGMD type 2F; LGMD2F; Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; Limb-girdle muscular dystrophy type 2F (ORPHA:219)
Association type: UNKNOWN
Gene: SGCD
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: FAM20A
Disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Association type: MENDELIAN
Gene: FAM20A
Disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Association type: UNKNOWN
Gene: RP9
Disease: RETINITIS PIGMENTOSA 9 (OMIM:180104)
Association type: MENDELIAN
Gene: RP9
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RP9
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: EMX2
Disease: SCHIZENCEPHALY (OMIM:269160)
Association type: MENDELIAN
Gene: EMX2
Disease: Acquired schizencephaly (ORPHA:485275)
Association type: UNKNOWN
Gene: IMPDH1
Disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Association type: MENDELIAN
Gene: IMPDH1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IMPDH1
Disease: LEBER CONGENITAL AMAUROSIS 11 (OMIM:613837)
Association type: MENDELIAN
Gene: IMPDH1
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: IMPDH1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CAPN10
Disease: TYPE 2 DIABETES MELLITUS 1 (OMIM:601283)
Association type: POLYGENIC
Gene: TBX3
Disease: ULNAR-MAMMARY SYNDROME (OMIM:181450)
Association type: MENDELIAN
Gene: TBX3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TBX3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TBX3
Disease: Ulnar-mammary syndrome; Pallister ulnar-mammary syndrome; Schinzel syndrome; UMS (ORPHA:3138)
Association type: UNKNOWN
Gene: SCARB2
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Association type: MENDELIAN
Gene: SCARB2
Disease: Progressive myoclonic epilepsy type 1; EPM1; Progressive myoclonus epilepsy type 1; ULD; Unverricht-Lundborg disease (ORPHA:308)
Association type: UNKNOWN
Gene: SCARB2
Disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Association type: UNKNOWN
Gene: SCARB2
Disease: Action myoclonus-renal failure syndrome; AMRF; EPM4; Myoclonus-nephropathy syndrome; Progressive myoclonic epilepsy type 4; Progressive myoclonus epilepsy type 4 (ORPHA:163696)
Association type: UNKNOWN
Gene: SETBP1
Disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Association type: MENDELIAN
Gene: SETBP1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Association type: MENDELIAN
Gene: SETBP1
Disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Association type: UNKNOWN
Gene: SETBP1
Disease:  (ORPHA:436151)
Association type: UNKNOWN
Gene: ADAMTS10
Disease: WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Association type: MENDELIAN
Gene: ADAMTS10
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ADAMTS10
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ADAMTS10
Disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Association type: UNKNOWN
Gene: VWF
Disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Association type: MENDELIAN
Gene: VWF
Disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Association type: MENDELIAN
Gene: VWF
Disease: VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554)
Association type: MENDELIAN
Gene: VWF
Disease: Von Willebrand disease type 1 (ORPHA:166078)
Association type: UNKNOWN
Gene: VWF
Disease: Von Willebrand disease type 2A (ORPHA:166084)
Association type: UNKNOWN
Gene: VWF
Disease: Von Willebrand disease type 2B (ORPHA:166087)
Association type: UNKNOWN
Gene: VWF
Disease: Von Willebrand disease type 2M (ORPHA:166090)
Association type: UNKNOWN
Gene: VWF
Disease: Von Willebrand disease type 3 (ORPHA:166096)
Association type: UNKNOWN
Gene: VWF
Disease: Von Willebrand disease type 2N (ORPHA:166093)
Association type: UNKNOWN
Gene: NR2F1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NR2F1
Disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Association type: MENDELIAN
Gene: NR2F1
Disease: Optic atrophy-intellectual disability syndrome; BBSOAS; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Association type: UNKNOWN
Gene: BBS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBS1
Disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Association type: MENDELIAN
Gene: BBS1
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: BBS1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: KIZ
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: KIZ
Disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Association type: MENDELIAN
Gene: KIZ
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: GUCA1B
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GUCA1B
Disease: RETINITIS PIGMENTOSA 48 (OMIM:613827)
Association type: MENDELIAN
Gene: GUCA1B
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CHM
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CHM
Disease: CHOROIDEREMIA (OMIM:303100)
Association type: MENDELIAN
Gene: CHM
Disease: Choroideremia; CHM; Tapetochoroidal dystrophy (ORPHA:180)
Association type: UNKNOWN
Gene: GPR179
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GPR179
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
Association type: MENDELIAN
Gene: GPR179
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: CEP78
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CEP78
Disease: CONE-ROD DYSTROPHY AND HEARING LOSS 1 (OMIM:617236)
Association type: MENDELIAN
Gene: CEP78
Disease: Usher syndrome type 3; USH3 (ORPHA:231183)
Association type: UNKNOWN
Gene: RP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RP1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: ARL3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ARL3
Disease: JOUBERT SYNDROME 35 (OMIM:618161)
Association type: MENDELIAN
Gene: ARL3
Disease: RETINITIS PIGMENTOSA 83 (OMIM:618173)
Association type: MENDELIAN
Gene: ARL3
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: ARL3
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: FAM161A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: FAM161A
Disease: RETINITIS PIGMENTOSA 28 (OMIM:606068)
Association type: MENDELIAN
Gene: FAM161A
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CYP4V2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CYP4V2
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Association type: MENDELIAN
Gene: CYP4V2
Disease: Bietti crystalline dystrophy; BCD; Bietti crystalline corneoretinal dystrophy; Bietti crystalline retinopathy (ORPHA:41751)
Association type: UNKNOWN
Gene: PRDM13
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRDM13
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Association type: MENDELIAN
Gene: PRDM13
Disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Association type: MENDELIAN
Gene: ELOVL1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ELOVL1
Disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Association type: MENDELIAN
Gene: CA4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CA4
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: DHX40
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: P4HA2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: P4HA2
Disease: MYOPIA 25, AUTOSOMAL DOMINANT (OMIM:617238)
Association type: MENDELIAN
Gene: P4HA2
Disease: Giant cell arteritis; Horton disease; Temporal arteritis (ORPHA:397)
Association type: UNKNOWN
Gene: CEP19
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CEP19
Disease: MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
Association type: MENDELIAN
Gene: CEP19
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: CEP19
Disease: Obesity due to CEP19 deficiency (ORPHA:397615)
Association type: UNKNOWN
Gene: ZNF513
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ZNF513
Disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Association type: MENDELIAN
Gene: ZNF513
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: SLC7A14
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SLC7A14
Disease: RETINITIS PIGMENTOSA 68 (OMIM:615725)
Association type: MENDELIAN
Gene: SLC7A14
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: ADGRA3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: KIAA1549
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: KIAA1549
Disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Association type: MENDELIAN
Gene: KIAA1549
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: KIAA1549
Disease: Pilomyxoid astrocytoma (ORPHA:251615)
Association type: UNKNOWN
Gene: TMEM237
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TMEM237
Disease: JOUBERT SYNDROME 14 (OMIM:614424)
Association type: MENDELIAN
Gene: TMEM237
Disease: Joubert syndrome with renal defect; JS-R (ORPHA:220497)
Association type: UNKNOWN
Gene: TMEM237
Disease: Joubert syndrome with oculorenal defect; Arima syndrome; CORS; Cerebellooculorenal syndrome; Dekaban-Arima syndrome; JS type B; JS-OR; Joubert syndrome with Senior-Loken syndrome (ORPHA:2318)
Association type: UNKNOWN
Gene: TMEM237
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: TMEM237
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: GDPD1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MERTK
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MERTK
Disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Association type: MENDELIAN
Gene: MERTK
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: ADIPOR1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TTPA
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TTPA
Disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Association type: MENDELIAN
Gene: TTPA
Disease: Ataxia with vitamin E deficiency; AVED; Ataxia with isolated vitamin E deficiency; Familial isolated vitamin E deficiency; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Association type: UNKNOWN
Gene: PDE6B
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PDE6B
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 (OMIM:163500)
Association type: MENDELIAN
Gene: PDE6B
Disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Association type: MENDELIAN
Gene: PDE6B
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: PDE6B
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PEX2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PEX2
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Association type: MENDELIAN
Gene: PEX2
Disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Association type: MENDELIAN
Gene: PEX2
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX2
Disease: Autosomal recessive ataxia due to PEX2 deficiency; Mild peroxisomal disorder due to PEX2 deficiency (ORPHA:642965)
Association type: UNKNOWN
Gene: PEX2
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX2
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: IDH3B
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IDH3B
Disease: RETINITIS PIGMENTOSA 46 (OMIM:612572)
Association type: MENDELIAN
Gene: IDH3B
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: TEAD1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TEAD1
Disease: SVEINSSON CHORIORETINAL ATROPHY (OMIM:108985)
Association type: MENDELIAN
Gene: TEAD1
Disease: Helicoid peripapillary chorioretinal degeneration; Atrophia areata; SCRA; Sveinsson chorioretinal atrophy (ORPHA:86813)
Association type: UNKNOWN
Gene: IMPG2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IMPG2
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5 (OMIM:616152)
Association type: MENDELIAN
Gene: IMPG2
Disease: RETINITIS PIGMENTOSA 56 (OMIM:613581)
Association type: MENDELIAN
Gene: IMPG2
Disease: Adult-onset foveomacular vitelliform dystrophy; AOFMD; AVMD; Adult-onset foveomacular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization; Adult-onset vitelliform macular dystrophy; Gass disease; Pseudo-Best disease; Pseudo-vitelliform macular dystrophy (ORPHA:99000)
Association type: UNKNOWN
Gene: IMPG2
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: MFSD8
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MFSD8
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Association type: MENDELIAN
Gene: MFSD8
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Association type: MENDELIAN
Gene: MFSD8
Disease: CLN7 disease; Neuronal ceroid lipofuscinosis type 7; Turkish variant late infantile; vLINCL (ORPHA:228366)
Association type: UNKNOWN
Gene: CNGA3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CNGA3
Disease: ACHROMATOPSIA 2 (OMIM:216900)
Association type: MENDELIAN
Gene: CNGA3
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: CNGA3
Disease: Achromatopsia; ACHM; Complete or incomplete color blindness; Pingelapese blindness; Rod monochromacy; Rod monochromatism; Total color blindness (ORPHA:49382)
Association type: UNKNOWN
Gene: MAPKAPK3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MAPKAPK3
Disease: MACULAR DYSTROPHY, PATTERNED, 3 (OMIM:617111)
Association type: MENDELIAN
Gene: MAPKAPK3
Disease: Martinique crinkled retinal pigment epitheliopathy; MCRPE (ORPHA:466718)
Association type: UNKNOWN
Gene: PDE6G
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PDE6G
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: PDE6G
Disease: RETINITIS PIGMENTOSA 57 (OMIM:613582)
Association type: MENDELIAN
Gene: PDE6G
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: OAT
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: OAT
Disease: GYRATE ATROPHY OF CHOROID AND RETINA (OMIM:258870)
Association type: MENDELIAN
Gene: OAT
Disease: Gyrate atrophy of choroid and retina; HOGA; Hyperornithinemia; Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Ornithine aminotransferase deficiency (ORPHA:414)
Association type: UNKNOWN
Gene: PDE6A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PDE6A
Disease: RETINITIS PIGMENTOSA 43 (OMIM:613810)
Association type: MENDELIAN
Gene: PDE6A
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: RP2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RP2
Disease: RETINITIS PIGMENTOSA 2 (OMIM:312600)
Association type: MENDELIAN
Gene: RP2
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: DTHD1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TUBGCP6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TUBGCP6
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 (OMIM:251270)
Association type: MENDELIAN
Gene: TUBGCP6
Disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Association type: UNKNOWN
Gene: TOPORS
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TOPORS
Disease: RETINITIS PIGMENTOSA 31 (OMIM:609923)
Association type: MENDELIAN
Gene: TOPORS
Disease: Orofaciodigital syndrome type 6; Joubert syndrome with oral-facial-digital syndrome; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi syndrome; Váradi-Papp syndrome (ORPHA:2754)
Association type: UNKNOWN
Gene: TOPORS
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: TTLL5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TTLL5
Disease: CONE-ROD DYSTROPHY 19 (OMIM:615860)
Association type: MENDELIAN
Gene: TTLL5
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: FZD4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: FZD4
Disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Association type: MENDELIAN
Gene: FZD4
Disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Association type: UNKNOWN
Gene: FZD4
Disease: Retinopathy of prematurity; ROP; Retrolental fibroplasia (ORPHA:90050)
Association type: UNKNOWN
Gene: FZD4
Disease: Persistent hyperplastic primary vitreous; Congenital retinal detachment; NCRNA disease; Non-syndromic congenital retinal non-attachment; PFVS; PHPV; Persistent fetal vasculature syndrome (ORPHA:91495)
Association type: UNKNOWN
Gene: ALPK1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ALPK1
Disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Association type: MENDELIAN
Gene: ALPK1
Disease: Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome; Optic nerve edema-splenomegaly syndrome; ROSAH syndrome (ORPHA:313800)
Association type: UNKNOWN
Gene: ZNF423
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ZNF423
Disease: NEPHRONOPHTHISIS 14 (OMIM:614844)
Association type: MENDELIAN
Gene: ZNF423
Disease: Joubert syndrome with oculorenal defect; Arima syndrome; CORS; Cerebellooculorenal syndrome; Dekaban-Arima syndrome; JS type B; JS-OR; Joubert syndrome with Senior-Loken syndrome (ORPHA:2318)
Association type: UNKNOWN
Gene: ZNF423
Disease: Infantile nephronophthisis; Autosomal recessive infantile NPHP; Autosomal recessive infantile nephronophthisis (ORPHA:93591)
Association type: UNKNOWN
Gene: CLCC1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CLCC1
Disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Association type: MENDELIAN
Gene: PLK4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PLK4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PLK4
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Association type: MENDELIAN
Gene: PLK4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PLK4
Disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Association type: UNKNOWN
Gene: PLK4
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: GNAT2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GNAT2
Disease: ACHROMATOPSIA 4 (OMIM:613856)
Association type: MENDELIAN
Gene: GNAT2
Disease: Progressive cone dystrophy; Cone dystrophy (ORPHA:1871)
Association type: UNKNOWN
Gene: GNAT2
Disease: Achromatopsia; ACHM; Complete or incomplete color blindness; Pingelapese blindness; Rod monochromacy; Rod monochromatism; Total color blindness (ORPHA:49382)
Association type: UNKNOWN
Gene: TRPM1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TRPM1
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Association type: MENDELIAN
Gene: TRPM1
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: HK1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: HK1
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
Association type: MENDELIAN
Gene: HK1
Disease: RETINITIS PIGMENTOSA 79 (OMIM:617460)
Association type: MENDELIAN
Gene: HK1
Disease: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES (OMIM:618547)
Association type: MENDELIAN
Gene: HK1
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE (OMIM:605285)
Association type: MENDELIAN
Gene: HK1
Disease: Charcot-Marie-Tooth disease type 4G; CMT4G; HMSNR; Hereditary motor and sensory neuropathy, Russe Type (ORPHA:99953)
Association type: UNKNOWN
Gene: HK1
Disease: Non-spherocytic hemolytic anemia due to hexokinase deficiency (ORPHA:90031)
Association type: UNKNOWN
Gene: USP45
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: USP45
Disease: LEBER CONGENITAL AMAUROSIS 19 (OMIM:618513)
Association type: MENDELIAN