TaoMedAI/RareMedData huggingface dataset:
Gene: USP45
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: NRL
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NRL
Disease: RETINITIS PIGMENTOSA 27 (OMIM:613750)
Association type: MENDELIAN
Gene: NRL
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: RDH11
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RDH11
Disease: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Association type: MENDELIAN
Gene: RDH11
Disease: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome; Retinal dystrophy-juvenile cataract-short stature syndrome (ORPHA:436245)
Association type: UNKNOWN
Gene: PGK1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PGK1
Disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Association type: MENDELIAN
Gene: PGK1
Disease: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency; GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Association type: UNKNOWN
Gene: RCBTB1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RCBTB1
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES (OMIM:617175)
Association type: MENDELIAN
Gene: RCBTB1
Disease: Reticular dystrophy of the retinal pigment epithelium (ORPHA:99002)
Association type: UNKNOWN
Gene: CLUAP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GRM6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GRM6
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
Association type: MENDELIAN
Gene: GRM6
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: PAX2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PAX2
Disease: PAPILLORENAL SYNDROME (OMIM:120330)
Association type: MENDELIAN
Gene: PAX2
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 (OMIM:616002)
Association type: MENDELIAN
Gene: PAX2
Disease: Renal coloboma syndrome; Coloboma of optic nerve with renal disease; Papillo-renal syndrome (ORPHA:1475)
Association type: UNKNOWN
Gene: PAX2
Disease: Renal hypoplasia, bilateral (ORPHA:97362)
Association type: UNKNOWN
Gene: PAX2
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: CRX
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CRX
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: CRX
Disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Association type: MENDELIAN
Gene: CRX
Disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Association type: MENDELIAN
Gene: CRX
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: CRX
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: CRX
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PXDN
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PXDN
Disease: ANTERIOR SEGMENT DYSGENESIS 7 (OMIM:269400)
Association type: MENDELIAN
Gene: PXDN
Disease: Congenital cataract microcornea with corneal opacity; CCMCO (ORPHA:289499)
Association type: UNKNOWN
Gene: PXDN
Disease:  (ORPHA:699850)
Association type: UNKNOWN
Gene: YPEL2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SAMD11
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CFAP418
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CFAP418
Disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Association type: MENDELIAN
Gene: CFAP418
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: CFAP418
Disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Association type: MENDELIAN
Gene: CFAP418
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: CFAP418
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: CFAP418
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CEP164
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CEP164
Disease: NEPHRONOPHTHISIS 15 (OMIM:614845)
Association type: MENDELIAN
Gene: CEP164
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: CCT2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CDHR1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CDHR1
Disease: CONE-ROD DYSTROPHY 15 (OMIM:613660)
Association type: MENDELIAN
Gene: CDHR1
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: CDHR1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: NR2E3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NR2E3
Disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Association type: MENDELIAN
Gene: NR2E3
Disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Association type: MENDELIAN
Gene: NR2E3
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: NR2E3
Disease: Goldmann-Favre syndrome; Enhanced S-cone syndrome; Retinoschisis with early nyctalopia (ORPHA:53540)
Association type: UNKNOWN
Gene: ARSG
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ARSG
Disease: USHER SYNDROME, TYPE IV (OMIM:618144)
Association type: MENDELIAN
Gene: ARSG
Disease: Usher syndrome type 3; USH3 (ORPHA:231183)
Association type: UNKNOWN
Gene: GNPTG
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GNPTG
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GNPTG
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GNPTG
Disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Association type: MENDELIAN
Gene: GNPTG
Disease: Mucolipidosis type III gamma; ML 3 gamma; ML III gamma; Mucolipidosis type 3 gamma (ORPHA:423470)
Association type: UNKNOWN
Gene: TUB
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TUB
Disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Association type: MENDELIAN
Gene: TUB
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: SPP2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: AHI1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: AHI1
Disease: JOUBERT SYNDROME 3 (OMIM:608629)
Association type: MENDELIAN
Gene: AHI1
Disease: Joubert syndrome with ocular defect; JS-O; Joubert syndrome with retinopathy (ORPHA:220493)
Association type: UNKNOWN
Gene: AHI1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: AHI1
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: VPS13B
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: VPS13B
Disease: COHEN SYNDROME (OMIM:216550)
Association type: MENDELIAN
Gene: VPS13B
Disease: Cohen syndrome (ORPHA:193)
Association type: UNKNOWN
Gene: REEP6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: REEP6
Disease: RETINITIS PIGMENTOSA 77 (OMIM:617304)
Association type: MENDELIAN
Gene: REEP6
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CNGB1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CNGB1
Disease: RETINITIS PIGMENTOSA 45 (OMIM:613767)
Association type: MENDELIAN
Gene: CNGB1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CNGA1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CNGA1
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: CNGA1
Disease: RETINITIS PIGMENTOSA 49 (OMIM:613756)
Association type: MENDELIAN
Gene: CNGA1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: RIMS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RIMS1
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: PLA2G5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PLA2G5
Disease: FLECK RETINA, FAMILIAL BENIGN (OMIM:228980)
Association type: MENDELIAN
Gene: PLA2G5
Disease: Familial benign flecked retina (ORPHA:363989)
Association type: UNKNOWN
Gene: CEP41
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CEP41
Disease: JOUBERT SYNDROME 15 (OMIM:614464)
Association type: MENDELIAN
Gene: CEP41
Disease: Joubert syndrome with ocular defect; JS-O; Joubert syndrome with retinopathy (ORPHA:220493)
Association type: UNKNOWN
Gene: CEP41
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: RGS9BP
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RGS9BP
Disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 (OMIM:620344)
Association type: MENDELIAN
Gene: RGS9BP
Disease: Bradyopsia; PERRS; Prolonged electroretinal response suppression (ORPHA:75374)
Association type: UNKNOWN
Gene: SLC4A7
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ARHGEF18
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ARHGEF18
Disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Association type: MENDELIAN
Gene: ARHGEF18
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PEX1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PEX1
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Association type: MENDELIAN
Gene: PEX1
Disease: HEIMLER SYNDROME 1 (OMIM:234580)
Association type: MENDELIAN
Gene: PEX1
Disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Association type: MENDELIAN
Gene: PEX1
Disease: Deafness-enamel hypoplasia-nail defects syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome; Heimler syndrome (ORPHA:3220)
Association type: UNKNOWN
Gene: PEX1
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX1
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX1
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: RS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RS1
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Association type: MENDELIAN
Gene: RS1
Disease: X-linked retinoschisis; X-linked juvenile retinoschisis; XLRS (ORPHA:792)
Association type: UNKNOWN
Gene: SLC24A1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SLC24A1
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D (OMIM:613830)
Association type: MENDELIAN
Gene: SLC24A1
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: VWA8
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: VWA8
Disease: RETINITIS PIGMENTOSA 97 (OMIM:620422)
Association type: MENDELIAN
Gene: FSCN2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: FSCN2
Disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Association type: MENDELIAN
Gene: FSCN2
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: POC5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: OR2W3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ASRGL1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MMACHC
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MMACHC
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Association type: MENDELIAN
Gene: MMACHC
Disease: Methylmalonic acidemia with homocystinuria, type cblC; CblC defect; Cobalamin C defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC; Methylmalonic aciduria with homocystinuria, type cblC (ORPHA:79282)
Association type: UNKNOWN
Gene: RGR
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RGR
Disease: RETINITIS PIGMENTOSA 44 (OMIM:613769)
Association type: MENDELIAN
Gene: RGR
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: FHOD3
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Association type: MENDELIAN
Gene: CXCR2
Disease: WHIM SYNDROME 2 (OMIM:619407)
Association type: MENDELIAN
Gene: CXCR2
Disease: Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency (ORPHA:420699)
Association type: UNKNOWN
Gene: PITRM1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Association type: MENDELIAN
Gene: KCNJ16
Disease: HYPOKALEMIC TUBULOPATHY AND DEAFNESS (OMIM:619406)
Association type: MENDELIAN
Gene: MPI
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib (OMIM:602579)
Association type: MENDELIAN
Gene: MPI
Disease: MPI-CDG; CDG syndrome type Ib; CDG-Ib; CDG1B; Carbohydrate deficient glycoprotein syndrome type Ib; Congenital disorder of glycosylation type 1b; Congenital disorder of glycosylation type Ib; Phosphomannose isomerase deficiency (ORPHA:79319)
Association type: UNKNOWN
Gene: AIRE
Disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Association type: MENDELIAN
Gene: AIRE
Disease: Familial isolated hypoparathyroidism due to impaired PTH secretion (ORPHA:189466)
Association type: UNKNOWN
Gene: AIRE
Disease: Autoimmune polyendocrinopathy type 1; APECED syndrome; APS type 1; APS1; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; Autoimmune polyendocrine syndrome type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune polyglandular syndrome type 1; HAM syndrome; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; MEDAC syndrome; Multiple endocrine deficiency-Addison disease-candidiasis syndrome (ORPHA:3453)
Association type: UNKNOWN
Gene: SLCO2A1
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT (OMIM:167100)
Association type: MENDELIAN
Gene: SLCO2A1
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
Association type: MENDELIAN
Gene: SLCO2A1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLCO2A1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLCO2A1
Disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Association type: UNKNOWN
Gene: SLCO2A1
Disease: Chronic enteropathy associated with SLCO2A1 gene; CEAS (ORPHA:468641)
Association type: UNKNOWN
Gene: EIF2B1
Disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Association type: MENDELIAN
Gene: EIF2B1
Disease: Ovarioleukodystrophy (ORPHA:99853)
Association type: UNKNOWN
Gene: EIF2B1
Disease: Cree leukoencephalopathy (ORPHA:99854)
Association type: UNKNOWN
Gene: EIF2B1
Disease: Late infantile CACH syndrome (ORPHA:157716)
Association type: UNKNOWN
Gene: EIF2B1
Disease: Juvenile or adult CACH syndrome (ORPHA:157719)
Association type: UNKNOWN
Gene: EIF2B1
Disease: Congenital or early infantile CACH syndrome (ORPHA:157713)
Association type: UNKNOWN
Gene: ATCAY
Disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Association type: MENDELIAN
Gene: ATCAY
Disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Association type: UNKNOWN
Gene: ATG7
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Association type: MENDELIAN
Gene: C2orf69
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Association type: MENDELIAN
Gene: MYL2
Disease: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY (OMIM:619424)
Association type: MENDELIAN
Gene: MYL2
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 (OMIM:608758)
Association type: MENDELIAN
Gene: MYL2
Disease: Congenital fiber-type disproportion myopathy; CFTDM (ORPHA:2020)
Association type: UNKNOWN
Gene: CFAP61
Disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Association type: MENDELIAN
Gene: CFAP61
Disease: Male infertility due to large-headed multiflagellar polyploid spermatozoa; Macrocephalic sperm head syndrome; Male infertility due to macrozoospermia (ORPHA:137893)
Association type: UNKNOWN
Gene: SPTSSA
Disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Association type: MENDELIAN
Gene: SPTSSA
Disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Association type: MENDELIAN
Gene: TUFT1
Disease: WOOLLY HAIR-SKIN FRAGILITY SYNDROME (OMIM:620415)
Association type: MENDELIAN
Gene: DDB1
Disease: WHITE-KERNOHAN SYNDROME (OMIM:619426)
Association type: MENDELIAN
Gene: TRIM8
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Association type: MENDELIAN
Gene: TRIM8
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: HMGCR
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 (OMIM:620410)
Association type: MENDELIAN
Gene: HMGCR
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Association type: MENDELIAN
Gene: HMGCR
Disease: Autosomal recessive limb-girdle muscular dystrophy, type 28; LGMD, type 28; LGMDR28; Limb-girdle, type 28R (ORPHA:653725)
Association type: UNKNOWN
Gene: MYMK
Disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Association type: MENDELIAN
Gene: MYMK
Disease: Carey-Fineman-Ziter syndrome; Myopathy-Moebius-Robin syndrome (ORPHA:1358)
Association type: UNKNOWN
Gene: DDRGK1
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE (OMIM:602557)
Association type: MENDELIAN
Gene: DDRGK1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DDRGK1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DDRGK1
Disease: Spondyloepimetaphyseal dysplasia, Shohat type; SEMD, Shohat type (ORPHA:93352)
Association type: UNKNOWN
Gene: KIF20A
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 (OMIM:619433)
Association type: MENDELIAN
Gene: KIF20A
Disease: Familial isolated restrictive cardiomyopathy; Familial or idiopathic restrictive cardiomyopathy (ORPHA:75249)
Association type: UNKNOWN
Gene: LINGO1
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 (OMIM:618103)
Association type: MENDELIAN
Gene: DPYSL5
Disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Association type: MENDELIAN
Gene: DPYSL5
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: DPYSL5
Disease: 3C syndrome; Craniocerebellocardiac dysplasia; Ritscher-Schinzel syndrome (ORPHA:7)
Association type: UNKNOWN
Gene: ACTG2
Disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Association type: MENDELIAN
Gene: ACTG2
Disease: VISCERAL MYOPATHY (OMIM:155310)
Association type: MENDELIAN
Gene: ACTG2
Disease: Myopathic intestinal pseudoobstruction (ORPHA:104077)
Association type: UNKNOWN
Gene: ACTG2
Disease: Familial visceral myopathy; Familial hollow visceral myopathy; Hereditary hollow visceral myopathy; Megaduodenum and/or megacystis (ORPHA:2604)
Association type: UNKNOWN
Gene: ACTG2
Disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Berdon syndrome; MMIHS; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Association type: UNKNOWN
Gene: KDM5B
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Association type: MENDELIAN
Gene: KDM5B
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: KDM5B
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: NUP54
Disease: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS (OMIM:620427)
Association type: MENDELIAN
Gene: NUP54
Disease: Familial infantile bilateral striatal necrosis; Familial IBSN; Familial infantile striatonigral degeneration; Familial infantile striatonigral necrosis (ORPHA:225154)
Association type: UNKNOWN
Gene: INTS11
Disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Association type: MENDELIAN
Gene: STK36
Disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Association type: MENDELIAN
Gene: STK36
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: IKZF3
Disease: IMMUNODEFICIENCY 84 (OMIM:619437)
Association type: MENDELIAN
Gene: IKZF3
Disease:  (ORPHA:699593)
Association type: UNKNOWN
Gene: IKZF3
Disease: B-cell chronic lymphocytic leukemia; B-CLL; B-cell chronic lymphoid leukemia; CLL; CLL/SLL; Chronic lymphocytic leukemia; Small lymphocytic lymphoma (ORPHA:67038)
Association type: UNKNOWN
Gene: SET
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Association type: MENDELIAN
Gene: SET
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: SET
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: GCSH
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 (OMIM:620423)
Association type: MENDELIAN
Gene: GCSH
Disease: Neonatal glycine encephalopathy; Classic glycine encephalopathy; Neonatal NKH; Neonatal non-ketotic hyperglycinemia (ORPHA:289857)
Association type: UNKNOWN
Gene: GCSH
Disease: Atypical glycine encephalopathy; Atypical NKA; Atypical non-ketotic hyperglycinemia (ORPHA:289863)
Association type: UNKNOWN
Gene: GCSH
Disease: Infantile glycine encephalopathy; Infantile NKH; Infantile non-ketotic hyperglycinemia (ORPHA:289860)
Association type: UNKNOWN
Gene: NODAL
Disease: HETEROTAXY, VISCERAL, 5, AUTOSOMAL (OMIM:270100)
Association type: MENDELIAN
Gene: NODAL
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NODAL
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: NODAL
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: NODAL
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: NODAL
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: NODAL
Disease: Midline interhemispheric variant of holoprosencephaly; MIH; MIH type HPE; MIHF; MIHV; Middle interhemispheric fusion variant; Middle interhemispheric variant of holoprosencephaly; Syntelencephaly (ORPHA:93926)
Association type: UNKNOWN
Gene: NODAL
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: NODAL
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: NODAL
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: CHKB
Disease: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE (OMIM:602541)
Association type: MENDELIAN