TaoMedAI/RareMedData huggingface dataset:
Gene: NUS1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Association type: MENDELIAN
Gene: NUS1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: COA5
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616500)
Association type: MENDELIAN
Gene: COA5
Disease: Fatal infantile cytochrome C oxidase deficiency; Fatal infantile COX deficiency; Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency (ORPHA:1561)
Association type: UNKNOWN
Gene: NTRK2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Association type: MENDELIAN
Gene: NTRK2
Disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Association type: MENDELIAN
Gene: NTRK2
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: NTRK2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: NTRK2
Disease: Pilomyxoid astrocytoma (ORPHA:251615)
Association type: UNKNOWN
Gene: NTRK2
Disease: Early-onset obesity-hyperphagia-severe developmental delay syndrome; OBHD (ORPHA:99704)
Association type: UNKNOWN
Gene: DHDDS
Disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Association type: MENDELIAN
Gene: DHDDS
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: DHDDS
Disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Association type: MENDELIAN
Gene: DHDDS
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: DHDDS
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: SLC25A46
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY (OMIM:616505)
Association type: MENDELIAN
Gene: SLC25A46
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SLC25A46
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E (OMIM:619303)
Association type: MENDELIAN
Gene: SLC25A46
Disease: Hereditary motor and sensory neuropathy type 6; CMT6; Charcot-Marie-Tooth disease type 6; HMSN 6; HMSN VI; Hereditary motor and sensory neuropathy type VI; Peripheral neuropathy and optic atrophy (ORPHA:90120)
Association type: UNKNOWN
Gene: SLC25A46
Disease: Pontocerebellar hypoplasia type 1; Norman disease; PCH1 (ORPHA:2254)
Association type: UNKNOWN
Gene: ADGRG6
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 (OMIM:616503)
Association type: MENDELIAN
Gene: LSS
Disease: CATARACT 44 (OMIM:616509)
Association type: MENDELIAN
Gene: LSS
Disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Association type: MENDELIAN
Gene: LSS
Disease: HYPOTRICHOSIS 14 (OMIM:618275)
Association type: MENDELIAN
Gene: LSS
Disease: Alopecia-intellectual disability syndrome; Perniola-Krajewska-Carnevale syndrome (ORPHA:2850)
Association type: UNKNOWN
Gene: LSS
Disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Association type: UNKNOWN
Gene: LSS
Disease: Autosomal recessive palmoplantar keratoderma and congenital alopecia; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Cataract-alopecia-sclerodactyly syndrome; PPK-CA, Wallis type; Palmoplantar keratoderma and congenital alopecia, Wallis type (ORPHA:1366)
Association type: UNKNOWN
Gene: LSS
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: ANXA11
Disease: AMYOTROPHIC LATERAL SCLEROSIS 23 (OMIM:617839)
Association type: MENDELIAN
Gene: ANXA11
Disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Association type: MENDELIAN
Gene: ANXA11
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: SPARC
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII (OMIM:616507)
Association type: MENDELIAN
Gene: SPARC
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: SPARC
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SPARC
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SPARC
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: SPARC
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: CCN2
Disease:  (OMIM:621099)
Association type: MENDELIAN
Gene: CCN2
Disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Association type: MENDELIAN
Gene: CCN2
Disease: Limited cutaneous systemic sclerosis; Limited cutaneous systemic scleroderma (ORPHA:220402)
Association type: UNKNOWN
Gene: CCN2
Disease: Diffuse cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis (ORPHA:220393)
Association type: UNKNOWN
Gene: GJB6
Disease: CLOUSTON SYNDROME (OMIM:129500)
Association type: MENDELIAN
Gene: GJB6
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3B (OMIM:612643)
Association type: MENDELIAN
Gene: GJB6
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1B (OMIM:612645)
Association type: MENDELIAN
Gene: GJB6
Disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Association type: MENDELIAN
Gene: GJB6
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Association type: MENDELIAN
Gene: GJB6
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: GJB6
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: GJB6
Disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Association type: UNKNOWN
Gene: GJB6
Disease: KID syndrome; Ichthyosis hystrix Rheydt type; KID/HID syndrome; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; Senter syndrome (ORPHA:477)
Association type: UNKNOWN
Gene: KCNQ1
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Association type: MENDELIAN
Gene: KCNQ1
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCNQ1
Disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Association type: MENDELIAN
Gene: KCNQ1
Disease: SHORT QT SYNDROME 2 (OMIM:609621)
Association type: MENDELIAN
Gene: KCNQ1
Disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Association type: MENDELIAN
Gene: KCNQ1
Disease: LONG QT SYNDROME 1 (OMIM:192500)
Association type: MENDELIAN
Gene: KCNQ1
Disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Association type: UNKNOWN
Gene: KCNQ1
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: KCNQ1
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: KCNQ1
Disease: Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome; Long QT interval-hearing loss syndrome (ORPHA:90647)
Association type: UNKNOWN
Gene: GBE1
Disease: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM (OMIM:263570)
Association type: MENDELIAN
Gene: GBE1
Disease: GLYCOGEN STORAGE DISEASE IV (OMIM:232500)
Association type: MENDELIAN
Gene: GBE1
Disease: Adult polyglucosan body disease; APBD (ORPHA:206583)
Association type: UNKNOWN
Gene: GBE1
Disease: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form; GBE deficiency, non progressive hepatic form; GSD due to glycogen branching enzyme deficiency, non progressive hepatic form; GSD type 4, non progressive hepatic form; GSDIV, non progressive hepatic form; Glycogen storage disease type 4, non progressive hepatic form; Glycogen storage disease type IV, non progressive hepatic form; Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form; Glycogenosis type 4, non progressive hepatic form; Glycogenosis type IV, non progressive hepatic form (ORPHA:308638)
Association type: UNKNOWN
Gene: GBE1
Disease: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form; GBE deficiency, progressive hepatic form; GSD due to glycogen branching enzyme deficiency, progressive hepatic form; GSD type 4, progressive hepatic form; GSDIV, progressive hepatic form; Glycogen storage disease type 4, progressive hepatic form; Glycogen storage disease type IV, progressive hepatic form; Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form; Glycogenosis type 4, progressive hepatic form; Glycogenosis type IV, progressive hepatic form (ORPHA:308621)
Association type: UNKNOWN
Gene: GBE1
Disease: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form; GBE deficiency, childhood combined hepatic and myopathic form; GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form; GSD type 4, childhood combined hepatic and myopathic form; GSDIV, childhood combined hepatic and myopathic form; Glycogen storage disease type 4, childhood combined hepatic and myopathic form; Glycogen storage disease type IV, childhood combined hepatic and myopathic form; Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form; Glycogenosis type 4, childhood combined hepatic and myopathic form; Glycogenosis type IV, childhood combined hepatic and myopathic form (ORPHA:308684)
Association type: UNKNOWN
Gene: GBE1
Disease: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form; GBE deficiency, congenital neuromuscular form; GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form; GSD type 4, congenital neuromuscular form; GSDIV, congenital neuromuscular form; Glycogen storage disease type 4, congenital neuromuscular form; Glycogen storage disease type IV, congenital neuromuscular form; Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form; Glycogenosis type 4, congenital neuromuscular form; Glycogenosis type IV, congenital neuromuscular form (ORPHA:308670)
Association type: UNKNOWN
Gene: GBE1
Disease: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form; GBE deficiency, fatal perinatal neuromuscular form; GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form; GSD type 4, fatal perinatal neuromuscular form; GSDIV, fatal perinatal neuromuscular form; Glycogen storage disease type 4, fatal perinatal neuromuscular form; Glycogen storage disease type IV, fatal perinatal neuromuscular form; Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form; Glycogenosis type 4, fatal perinatal neuromuscular form; Glycogenosis type IV, fatal perinatal neuromuscular form (ORPHA:308655)
Association type: UNKNOWN
Gene: GBE1
Disease: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form; GBE deficiency, childhood neuromuscular form; GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form; GSD type 4, childhood neuromuscular form; GSDIV, childhood neuromuscular form; Glycogen storage disease type 4, childhood neuromuscular form; Glycogen storage disease type IV, childhood neuromuscular form; Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form; Glycogenosis type 4, childhood neuromuscular form; Glycogenosis type IV, childhood neuromuscular form (ORPHA:308698)
Association type: UNKNOWN
Gene: GBE1
Disease: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form; GBE deficiency, adult neuromuscular form; GSD due to glycogen branching enzyme deficiency, adult neuromuscular form; GSD type 4, adult neuromuscular form; GSDIV, adult neuromuscular form; Glycogen storage disease type 4, adult neuromuscular form; Glycogen storage disease type IV, adult neuromuscular form; Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form; Glycogenosis type 4, adult neuromuscular form; Glycogenosis type IV, adult neuromuscular form (ORPHA:308712)
Association type: UNKNOWN
Gene: SLC11A2
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (OMIM:206100)
Association type: MENDELIAN
Gene: SLC11A2
Disease: Microcytic anemia with liver iron overload (ORPHA:83642)
Association type: UNKNOWN
Gene: APPL1
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (OMIM:616511)
Association type: POLYGENIC
Gene: APPL1
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: ATF6
Disease: ACHROMATOPSIA 7 (OMIM:616517)
Association type: MENDELIAN
Gene: ATF6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ATF6
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: ATF6
Disease: Achromatopsia; ACHM; Complete or incomplete color blindness; Pingelapese blindness; Rod monochromacy; Rod monochromatism; Total color blindness (ORPHA:49382)
Association type: UNKNOWN
Gene: LMNA
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (OMIM:616516)
Association type: MENDELIAN
Gene: LMNA
Disease: HEART-HAND SYNDROME, SLOVENIAN TYPE (OMIM:610140)
Association type: MENDELIAN
Gene: LMNA
Disease: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (OMIM:212112)
Association type: MENDELIAN
Gene: LMNA
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: LMNA
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (OMIM:605588)
Association type: MENDELIAN
Gene: LMNA
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (OMIM:248370)
Association type: MENDELIAN
Gene: LMNA
Disease: CARDIOMYOPATHY, DILATED, 1A (OMIM:115200)
Association type: MENDELIAN
Gene: LMNA
Disease: HUTCHINSON-GILFORD PROGERIA SYNDROME (OMIM:176670)
Association type: MENDELIAN
Gene: LMNA
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (OMIM:613205)
Association type: MENDELIAN
Gene: LMNA
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 (OMIM:151660)
Association type: MENDELIAN
Gene: LMNA
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (OMIM:181350)
Association type: MENDELIAN
Gene: LMNA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LMNA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LMNA
Disease: RESTRICTIVE DERMOPATHY 2 (OMIM:619793)
Association type: MENDELIAN
Gene: LMNA
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: LMNA
Disease: Atypical Werner syndrome; Atypical progeroid syndrome (ORPHA:79474)
Association type: UNKNOWN
Gene: LMNA
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: LMNA
Disease: Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365)
Association type: UNKNOWN
Gene: LMNA
Disease: Heart-hand syndrome, Slovenian type; Atriodigital dysplasia, Slovenian type; Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome (ORPHA:168796)
Association type: UNKNOWN
Gene: LMNA
Disease: Autosomal recessive Emery-Dreifuss muscular dystrophy; EDMD3 (ORPHA:98855)
Association type: UNKNOWN
Gene: LMNA
Disease: Charcot-Marie-Tooth disease type 2B1; AR-CMT2B1; Autosomal recessive Charcot-Marie-Tooth disease type 2B1; Autosomal recessive axonal CMT4C1 (ORPHA:98856)
Association type: UNKNOWN
Gene: LMNA
Disease: Autosomal dominant Emery-Dreifuss muscular dystrophy; EDMD2 (ORPHA:98853)
Association type: UNKNOWN
Gene: LMNA
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN
Gene: LMNA
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: LMNA
Disease: Congenital muscular dystrophy due to LMNA mutation; L-CMD; LMNA-related congenital muscular dystrophy (ORPHA:157973)
Association type: UNKNOWN
Gene: LMNA
Disease: Hutchinson-Gilford progeria syndrome; HGPS; Progeria (ORPHA:740)
Association type: UNKNOWN
Gene: LMNA
Disease: Familial partial lipodystrophy, Dunnigan type; Dunnigan syndrome; FPLD2; Familial partial lipodystrophy type 2 (ORPHA:2348)
Association type: UNKNOWN
Gene: LMNA
Disease: Mandibuloacral dysplasia with type A lipodystrophy; MADA (ORPHA:90153)
Association type: UNKNOWN
Gene: LMNA
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: LMNA
Disease: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORPHA:300751)
Association type: UNKNOWN
Gene: LMNA
Disease: Familial partial lipodystrophy, Köbberling type; FPLD1; Familial partial lipodystrophy type 1 (ORPHA:79084)
Association type: UNKNOWN
Gene: LMNA
Disease: Restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal restrictive dermopathy; Lethal tight skin-contracture syndrome (ORPHA:1662)
Association type: UNKNOWN
Gene: LMNA
Disease: LMNA-related cardiocutaneous progeria syndrome; LCPS (ORPHA:363618)
Association type: UNKNOWN
Gene: LMNA
Disease: Epithelioid hemangioma; ALHE; Angiolymphoid hyperplasia with eosinophilia; EH (ORPHA:675396)
Association type: UNKNOWN
Gene: LMNA
Disease: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Cardiogenital syndrome; Malouf syndrome; Najjar syndrome (ORPHA:2229)
Association type: UNKNOWN
Gene: RIPOR2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 104 (OMIM:616515)
Association type: MENDELIAN
Gene: RIPOR2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
Association type: MENDELIAN
Gene: RIPOR2
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: NCF1
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 (OMIM:233700)
Association type: MENDELIAN
Gene: NCF1
Disease: Chronic granulomatous disease; CGD; Chronic septic granulomatosis (ORPHA:379)
Association type: UNKNOWN
Gene: NCF1
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: DNAI1
Disease: CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
Association type: MENDELIAN
Gene: DNAI1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: KRT86
Disease: MONILETHRIX (OMIM:158000)
Association type: MENDELIAN
Gene: KRT86
Disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Association type: UNKNOWN
Gene: GJA8
Disease: CATARACT 1, MULTIPLE TYPES (OMIM:116200)
Association type: MENDELIAN
Gene: GJA8
Disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Association type: MENDELIAN
Gene: GJA8
Disease: Cataract-microcornea syndrome (ORPHA:1377)
Association type: UNKNOWN
Gene: GJA8
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: GJA8
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: GJA8
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: GJA8
Disease: Early-onset sutural cataract; Early-onset cataract with Y-shaped suture opacities (ORPHA:98985)
Association type: UNKNOWN
Gene: GJA8
Disease: Isolated congenital sclerocornea (ORPHA:91490)
Association type: UNKNOWN
Gene: BSCL2
Disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Association type: MENDELIAN
Gene: BSCL2
Disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Association type: MENDELIAN
Gene: BSCL2
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Association type: MENDELIAN
Gene: BSCL2
Disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Association type: MENDELIAN
Gene: BSCL2
Disease: Distal hereditary motor neuropathy type 5; Distal HMN V; Distal hereditary motor neuropathy type V; Distal spinal muscular atrophy type 5; dHMN5 (ORPHA:139536)
Association type: UNKNOWN
Gene: BSCL2
Disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Association type: UNKNOWN
Gene: BSCL2
Disease: Autosomal dominant spastic paraplegia type 17; SPG17; Silver syndrome; Spastic paraplegia-amyotrophy of hands and feet (ORPHA:100998)
Association type: UNKNOWN
Gene: BSCL2
Disease:  (ORPHA:696289)
Association type: UNKNOWN
Gene: CLTC
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Association type: MENDELIAN
Gene: CLTC
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: CLTC
Disease: Inflammatory myofibroblastic tumor (ORPHA:178342)
Association type: UNKNOWN
Gene: CLTC
Disease: MiT family translocation renal cell carcinoma; Carcinoma associated with MITF/TFE translocation; Translocation renal cell carcinoma (ORPHA:319308)
Association type: UNKNOWN
Gene: CLTC
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: UROC1
Disease: UROCANASE DEFICIENCY (OMIM:276880)
Association type: MENDELIAN
Gene: UROC1
Disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Association type: UNKNOWN
Gene: MYT1L
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Association type: MENDELIAN
Gene: MYT1L
Disease:  (ORPHA:699850)
Association type: UNKNOWN
Gene: MYT1L
Disease: MYT1L-related developmental delay-intellectual disability-obesity syndrome; MYT1L-associated neurodevelopmental disorder (ORPHA:647799)
Association type: UNKNOWN
Gene: C9orf72
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Association type: MENDELIAN
Gene: PDCD10
Disease: CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
Association type: MENDELIAN
Gene: PDCD10
Disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Association type: MENDELIAN