TaoMedAI/RareMedData huggingface dataset:
Gene: XYLT2
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: XYLT2
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: XYLT2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: XYLT2
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: XYLT2
Disease: Spondylo-ocular syndrome (ORPHA:85194)
Association type: UNKNOWN
Gene: BMPR1B
Disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Association type: MENDELIAN
Gene: BMPR1B
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE (OMIM:609441)
Association type: MENDELIAN
Gene: BMPR1B
Disease: BRACHYDACTYLY, TYPE A1, D (OMIM:616849)
Association type: MENDELIAN
Gene: BMPR1B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BMPR1B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BMPR1B
Disease: Fibular aplasia-complex brachydactyly syndrome; Du Pan syndrome (ORPHA:2639)
Association type: UNKNOWN
Gene: BMPR1B
Disease: Brachydactyly type A2; Brachydactyly, Mohr-Wriedt type (ORPHA:93396)
Association type: UNKNOWN
Gene: BMPR1B
Disease: Brachydactyly type C (ORPHA:93384)
Association type: UNKNOWN
Gene: BMPR1B
Disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Association type: UNKNOWN
Gene: BMPR1B
Disease: Acromesomelic dysplasia, Grebe type; Chondrodysplasia, Grebe type (ORPHA:2098)
Association type: UNKNOWN
Gene: BMP2
Disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Association type: MENDELIAN
Gene: BMP2
Disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 (OMIM:617877)
Association type: MENDELIAN
Gene: BMP2
Disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Association type: POLYGENIC
Gene: BMP2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BMP2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BMP2
Disease: 20p12.3 microdeletion syndrome; Del(20)(p12.3); Monosomy 20p12.3 (ORPHA:261295)
Association type: UNKNOWN
Gene: BMP2
Disease: Brachydactyly type A2; Brachydactyly, Mohr-Wriedt type (ORPHA:93396)
Association type: UNKNOWN
Gene: GNE
Disease: NONAKA MYOPATHY (OMIM:605820)
Association type: MENDELIAN
Gene: GNE
Disease: SIALURIA (OMIM:269921)
Association type: MENDELIAN
Gene: GNE
Disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Association type: MENDELIAN
Gene: GNE
Disease: Severe autosomal recessive macrothrombocytopenia (ORPHA:438207)
Association type: UNKNOWN
Gene: GNE
Disease: Sialuria; Sialuria, French type (ORPHA:3166)
Association type: UNKNOWN
Gene: GNE
Disease: GNE myopathy; DMRV; Distal myopathy with rimmed vacuoles; Distal myopathy, Nonaka type; HIBM2; Hereditary inclusion body myopathy type 2; IBM2; Inclusion body myopathy type 2; Nonaka myopathy; Quadriceps-sparing myopathy (ORPHA:602)
Association type: UNKNOWN
Gene: SGSH
Disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIA (OMIM:252900)
Association type: MENDELIAN
Gene: SGSH
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SGSH
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SGSH
Disease: Sanfilippo syndrome type A; Heparan sulfamidase deficiency; MPS3A; MPSIIIA; Mucopolysaccharidosis type 3A; Mucopolysaccharidosis type IIIA (ORPHA:79269)
Association type: UNKNOWN
Gene: ARFGEF2
Disease: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
Association type: MENDELIAN
Gene: ARFGEF2
Disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Association type: UNKNOWN
Gene: PRRX1
Disease: AGNATHIA-OTOCEPHALY COMPLEX (OMIM:202650)
Association type: MENDELIAN
Gene: PRRX1
Disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Association type: UNKNOWN
Gene: DPAGT1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Association type: MENDELIAN
Gene: DPAGT1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Association type: MENDELIAN
Gene: DPAGT1
Disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Association type: UNKNOWN
Gene: DPAGT1
Disease: DPAGT1-CDG; CDG syndrome type Ij; CDG-Ij; CDG1J; Carbohydrate deficient glycoprotein syndrome type Ij; Congenital disorder of glycosylation type 1j; Congenital disorder of glycosylation type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency (ORPHA:86309)
Association type: UNKNOWN
Gene: TMEM216
Disease: JOUBERT SYNDROME 2 (OMIM:608091)
Association type: MENDELIAN
Gene: TMEM216
Disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Association type: MENDELIAN
Gene: TMEM216
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TMEM216
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TMEM216
Disease:  (OMIM:620996)
Association type: MENDELIAN
Gene: TMEM216
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TMEM216
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: TMEM216
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: TMEM216
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: TMEM216
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: INPP5E
Disease: JOUBERT SYNDROME 1 (OMIM:213300)
Association type: MENDELIAN
Gene: INPP5E
Disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Association type: MENDELIAN
Gene: INPP5E
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: INPP5E
Disease: Joubert syndrome with ocular defect; JS-O; Joubert syndrome with retinopathy (ORPHA:220493)
Association type: UNKNOWN
Gene: INPP5E
Disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Association type: UNKNOWN
Gene: INPP5E
Disease: Joubert syndrome with hepatic defect; COACH syndrome; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; JS-H; Joubert syndrome with congenital hepatic fibrosis (ORPHA:1454)
Association type: UNKNOWN
Gene: INPP5E
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: LPL
Disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Association type: MENDELIAN
Gene: LPL
Disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Association type: MENDELIAN
Gene: LPL
Disease: Familial lipoprotein lipase deficiency; LPL deficiency (ORPHA:309015)
Association type: UNKNOWN
Gene: CD40LG
Disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 (OMIM:308230)
Association type: MENDELIAN
Gene: CD40LG
Disease: X-linked hyper-IgM syndrome; HIGM1; Hyper-IgM syndrome due to CD40 ligand deficiency; Hyper-IgM syndrome due to CD40L deficiency; Hyper-IgM syndrome type 1; XHIGM (ORPHA:101088)
Association type: UNKNOWN
Gene: EGF
Disease: HYPOMAGNESEMIA 4, RENAL (OMIM:611718)
Association type: MENDELIAN
Gene: EGF
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: EGF
Disease: EGF-related primary hypomagnesemia with intellectual disability (ORPHA:620368)
Association type: UNKNOWN
Gene: SGCA
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Association type: MENDELIAN
Gene: SGCA
Disease: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; Alpha-sarcoglycan-related LGMD R3; Alpha-sarcoglycanopathy; Autosomal recessive limb-girdle muscular dystrophy type 2D; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; LGMD2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; Limb-girdle muscular dystrophy type 2D (ORPHA:62)
Association type: UNKNOWN
Gene: MRPS22
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 (OMIM:611719)
Association type: MENDELIAN
Gene: MRPS22
Disease: OVARIAN DYSGENESIS 7 (OMIM:618117)
Association type: MENDELIAN
Gene: MRPS22
Disease: Hypotonia with lactic acidemia and hyperammonemia; COXPD5; Combined oxidative phosphorylation defect type 5 (ORPHA:137908)
Association type: UNKNOWN
Gene: MRPS22
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: SLC25A13
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Association type: MENDELIAN
Gene: SLC25A13
Disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Association type: MENDELIAN
Gene: SLC25A13
Disease: Neonatal intrahepatic cholestasis due to citrin deficiency; NICCD; Neonatal intrahepatic cholestasis caused by citrin deficiency (ORPHA:247598)
Association type: UNKNOWN
Gene: SLC25A13
Disease: Citrullinemia type II; Adult-onset citrin deficiency; Adult-onset citrullinemia type 2; Adult-onset citrullinemia type II; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Association type: UNKNOWN
Gene: COL7A1
Disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Association type: MENDELIAN
Gene: COL7A1
Disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Association type: MENDELIAN
Gene: COL7A1
Disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Association type: MENDELIAN
Gene: COL7A1
Disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Association type: MENDELIAN
Gene: COL7A1
Disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Association type: MENDELIAN
Gene: COL7A1
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8 (OMIM:607523)
Association type: MENDELIAN
Gene: COL7A1
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA (OMIM:604129)
Association type: MENDELIAN
Gene: COL7A1
Disease: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; Generalized RDEB, severe form; RDEB generalisata gravis; RDEB, Hallopeau-Siemens type; Severe generalized RDEB (ORPHA:79408)
Association type: UNKNOWN
Gene: COL7A1
Disease: Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa; RDEB-I (ORPHA:79409)
Association type: UNKNOWN
Gene: COL7A1
Disease: Localized dystrophic epidermolysis bullosa, pretibial form; DEB-Pt; Localized DEB, pretibial form (ORPHA:79410)
Association type: UNKNOWN
Gene: COL7A1
Disease: Self-improving dystrophic epidermolysis bullosa; Self-improving DEB; Transient bullous dermolysis of the newborn (ORPHA:79411)
Association type: UNKNOWN
Gene: COL7A1
Disease: Localized dystrophic epidermolysis bullosa, nails only; Localized DEB, nails only (ORPHA:158676)
Association type: UNKNOWN
Gene: COL7A1
Disease: Localized dystrophic epidermolysis bullosa, acral form; Localized DEB, acral form (ORPHA:158673)
Association type: UNKNOWN
Gene: COL7A1
Disease: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type; Generalized RDEB, intermediate form; RDEB, non-Hallopeau-Siemens type (ORPHA:89842)
Association type: UNKNOWN
Gene: COL7A1
Disease: Dystrophic epidermolysis bullosa pruriginosa; DEB pruriginosa; DEB-Pr; Pruriginous dystrophic epidermolysis bullosa (ORPHA:89843)
Association type: UNKNOWN
Gene: COL7A1
Disease: Autosomal dominant generalized dystrophic epidermolysis bullosa; Generalized DDEB (ORPHA:231568)
Association type: UNKNOWN
Gene: PSAP
Disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Association type: MENDELIAN
Gene: PSAP
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Association type: MENDELIAN
Gene: PSAP
Disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Association type: MENDELIAN
Gene: PSAP
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Association type: MENDELIAN
Gene: PSAP
Disease: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:619491)
Association type: POLYGENIC
Gene: PSAP
Disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Association type: UNKNOWN
Gene: PSAP
Disease: Infantile Krabbe disease; Krabbe disease, classic form; Krabbe disease, early-onset (ORPHA:206436)
Association type: UNKNOWN
Gene: PSAP
Disease: Metachromatic leukodystrophy, adult form; Arylsulfatase A deficiency, adult form; MLD, adult form (ORPHA:309271)
Association type: UNKNOWN
Gene: PSAP
Disease: Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form; MLD, juvenile form (ORPHA:309263)
Association type: UNKNOWN
Gene: PSAP
Disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Association type: UNKNOWN
Gene: PSAP
Disease: Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form; MLD, late infantile form (ORPHA:309256)
Association type: UNKNOWN
Gene: IRF4
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8 (OMIM:611724)
Association type: MENDELIAN
Gene: IRF4
Disease:  (OMIM:621097)
Association type: MENDELIAN
Gene: IRF4
Disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Association type: UNKNOWN
Gene: KCTD7
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Association type: MENDELIAN
Gene: KCTD7
Disease: Progressive myoclonic epilepsy type 3; EPM3; PME type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; Progressive myoclonus epilepsy type 3 (ORPHA:263516)
Association type: UNKNOWN
Gene: KCTD7
Disease:  (ORPHA:699708)
Association type: UNKNOWN
Gene: SH2D1A
Disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Association type: MENDELIAN
Gene: SH2D1A
Disease: X-linked lymphoproliferative disease due to SAP deficiency; X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency; X-linked lymphoproliferative disease due to SH2D1A deficiency; X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency; X-linked lymphoproliferative syndrome type 1; XLP1 (ORPHA:538931)
Association type: UNKNOWN
Gene: XIAP
Disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Association type: MENDELIAN
Gene: XIAP
Disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Association type: MENDELIAN
Gene: XIAP
Disease: X-linked lymphoproliferative disease due to XIAP deficiency; X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2 (ORPHA:538934)
Association type: UNKNOWN
Gene: FLG
Disease: DERMATITIS, ATOPIC, 2 (OMIM:605803)
Association type: POLYGENIC
Gene: FLG
Disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Association type: MENDELIAN
Gene: FLG
Disease: Recessive X-linked ichthyosis; RXLI; Steroid sulfatase deficiency; X-linked ichthyosis; XLI (ORPHA:461)
Association type: UNKNOWN
Gene: WNT10B
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (OMIM:225300)
Association type: MENDELIAN
Gene: WNT10B
Disease: TOOTH AGENESIS, SELECTIVE, 8 (OMIM:617073)
Association type: MENDELIAN
Gene: WNT10B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: WNT10B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WNT10B
Disease: Isolated split hand-split foot malformation; Ectrodactyly; SHFM; Split hand foot malformation (ORPHA:2440)
Association type: UNKNOWN
Gene: WNT10B
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: CHRNE
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
Association type: MENDELIAN
Gene: CHRNE
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
Association type: MENDELIAN
Gene: CHRNE
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Association type: MENDELIAN
Gene: CHRNE
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: AFF2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Association type: MENDELIAN
Gene: AFF2
Disease: FRAXE intellectual disability; Intellectual disability associated with fragile site FRAXE (ORPHA:100973)
Association type: UNKNOWN
Gene: FTSJ1
Disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Association type: MENDELIAN
Gene: FTSJ1
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: HNF1B
Disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Association type: MENDELIAN
Gene: HNF1B
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: MENDELIAN
Gene: HNF1B
Disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Association type: POLYGENIC
Gene: HNF1B
Disease: Bilateral multicystic dysplastic kidney; Bilateral MCDK; Bilateral multicystic renal dysplasia (ORPHA:97364)
Association type: UNKNOWN
Gene: HNF1B
Disease: Unilateral multicystic dysplastic kidney; Unilateral MCDK; Unilateral multicystic renal dysplasia (ORPHA:97363)
Association type: UNKNOWN
Gene: HNF1B
Disease: Mayer-Rokitansky-Küster-Hauser syndrome type 2; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome (ORPHA:2578)
Association type: UNKNOWN
Gene: HNF1B
Disease: Renal dysplasia, unilateral; Kidney dysplasia, unilateral (ORPHA:93172)
Association type: UNKNOWN
Gene: HNF1B
Disease: Renal dysplasia, bilateral; Kidney dysplasia, bilateral (ORPHA:93173)
Association type: UNKNOWN
Gene: HNF1B
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: HNF1B
Disease: HNF1B-related autosomal dominant tubulointerstitial kidney disease; ADTKD-HNF1B; HNF1B-MODY; HNF1B-related nephropathy; MODY5; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; Renal dysfunction-early-onset diabetes syndrome (ORPHA:93111)
Association type: UNKNOWN
Gene: HNF1B
Disease: Medullary sponge kidney; Cacchi-Ricci disease; MSK; Precalicial canalicular ectasia (ORPHA:1309)
Association type: UNKNOWN
Gene: HNF1B
Disease: 17q12 microdeletion syndrome; Del(17)(q12); Monosomy 17q12 (ORPHA:261265)
Association type: UNKNOWN
Gene: HCFC1
Disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Association type: MENDELIAN
Gene: HCFC1
Disease: Methylmalonic acidemia with homocystinuria, type cblX; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX; Methylmalonic aciduria with homocystinuria, type cblX (ORPHA:369962)
Association type: UNKNOWN
Gene: HCFC1
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: MYH7
Disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Association type: MENDELIAN
Gene: MYH7
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Association type: MENDELIAN
Gene: MYH7
Disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Association type: MENDELIAN
Gene: MYH7
Disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Association type: MENDELIAN
Gene: MYH7
Disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Association type: MENDELIAN
Gene: MYH7
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: MYH7
Disease: Autosomal recessive myosin storage myopathy; MSMB (ORPHA:636970)
Association type: UNKNOWN
Gene: MYH7
Disease: Autosomal dominant myosin storage myopathy; MSMA (ORPHA:636965)
Association type: UNKNOWN
Gene: MYH7
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: MYH7
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: MYH7
Disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Association type: UNKNOWN
Gene: MYH7
Disease: Ebstein malformation of the tricuspid valve; Ebstein anomaly of the tricuspid valve (ORPHA:1880)
Association type: UNKNOWN
Gene: MYH7
Disease: Classic multiminicore myopathy; Classic MmD; Classic multiminicore disease (ORPHA:324604)
Association type: UNKNOWN
Gene: MYO7A
Disease: USHER SYNDROME, TYPE I (OMIM:276900)
Association type: MENDELIAN
Gene: MYO7A
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 (OMIM:600060)
Association type: MENDELIAN
Gene: MYO7A
Disease: DEAFNESS, AUTOSOMAL DOMINANT 11 (OMIM:601317)
Association type: MENDELIAN
Gene: MYO7A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MYO7A
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: MYO7A
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: MYO7A
Disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Association type: UNKNOWN
Gene: MYO7A
Disease: Usher syndrome type 1; USH1 (ORPHA:231169)
Association type: UNKNOWN
Gene: USH1C
Disease: USHER SYNDROME, TYPE I (OMIM:276900)
Association type: MENDELIAN
Gene: USH1C
Disease: USHER SYNDROME, TYPE IC (OMIM:276904)
Association type: MENDELIAN
Gene: USH1C
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
Association type: MENDELIAN
Gene: USH1C
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: USH1C
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: USH1C
Disease: Usher syndrome type 1; USH1 (ORPHA:231169)
Association type: UNKNOWN
Gene: USH2A
Disease: USHER SYNDROME, TYPE IIA (OMIM:276901)
Association type: MENDELIAN
Gene: USH2A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: USH2A
Disease: RETINITIS PIGMENTOSA 39 (OMIM:613809)
Association type: MENDELIAN
Gene: USH2A
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: USH2A
Disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Association type: UNKNOWN
Gene: PDZD7
Disease: USHER SYNDROME, TYPE IIA (OMIM:276901)
Association type: POLYGENIC
Gene: PDZD7
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN