TaoMedAI/RareMedData huggingface dataset:
Gene: COCH
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: SLC36A2
Disease: IMINOGLYCINURIA (OMIM:242600)
Association type: MENDELIAN
Gene: SLC36A2
Disease: HYPERGLYCINURIA (OMIM:138500)
Association type: MENDELIAN
Gene: SLC36A2
Disease: Iminoglycinuria (ORPHA:42062)
Association type: UNKNOWN
Gene: PRKCH
Disease: STROKE, ISCHEMIC (OMIM:601367)
Association type: POLYGENIC
Gene: ALOX5AP
Disease: STROKE, ISCHEMIC (OMIM:601367)
Association type: POLYGENIC
Gene: TLCD3B
Disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Association type: MENDELIAN
Gene: TLCD3B
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: TRAK1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 (OMIM:618201)
Association type: MENDELIAN
Gene: TRAK1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: IFT56
Disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Association type: MENDELIAN
Gene: PPP1R13L
Disease: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES (OMIM:620519)
Association type: MENDELIAN
Gene: PPP1R13L
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: PRR12
Disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Association type: MENDELIAN
Gene: PRR12
Disease: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome; PRR12-related neuroocular syndrome (ORPHA:659904)
Association type: UNKNOWN
Gene: GGT1
Disease: GLUTATHIONURIA (OMIM:231950)
Association type: MENDELIAN
Gene: GGT1
Disease: Gamma-glutamyl transpeptidase deficiency; Gamma-glutamyl transferase deficiency; Glutathionuria (ORPHA:33573)
Association type: UNKNOWN
Gene: CHD3
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME (OMIM:618205)
Association type: MENDELIAN
Gene: CHD3
Disease: CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome; Snijders Blok-Campeau syndrome (ORPHA:599082)
Association type: UNKNOWN
Gene: FLNB
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME (OMIM:272460)
Association type: MENDELIAN
Gene: FLNB
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: FLNB
Disease: ATELOSTEOGENESIS, TYPE III (OMIM:108721)
Association type: MENDELIAN
Gene: FLNB
Disease: ATELOSTEOGENESIS, TYPE I (OMIM:108720)
Association type: MENDELIAN
Gene: FLNB
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: FLNB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FLNB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FLNB
Disease: BOOMERANG DYSPLASIA (OMIM:112310)
Association type: MENDELIAN
Gene: FLNB
Disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Association type: UNKNOWN
Gene: FLNB
Disease: Boomerang dysplasia (ORPHA:1263)
Association type: UNKNOWN
Gene: FLNB
Disease: Atelosteogenesis type III; AO3; AOIII; Atelosteogenesis type 3 (ORPHA:56305)
Association type: UNKNOWN
Gene: FLNB
Disease: Atelosteogenesis type I; AO1; AOI; Atelosteogenesis type 1; Giant cell chondrodysplasia; Spondylo-humero-femoral dysplasia (ORPHA:1190)
Association type: UNKNOWN
Gene: FLNB
Disease: Larsen syndrome (ORPHA:503)
Association type: UNKNOWN
Gene: SMARCA2
Disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Association type: MENDELIAN
Gene: SMARCA2
Disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Association type: MENDELIAN
Gene: SMARCA2
Disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Association type: UNKNOWN
Gene: SMARCA2
Disease: SMARCA2-related blepharophimosis-intellectual disability syndrome (ORPHA:637013)
Association type: UNKNOWN
Gene: CIBAR1
Disease: POLYDACTYLY, POSTAXIAL, TYPE A9 (OMIM:618219)
Association type: MENDELIAN
Gene: CIBAR1
Disease: Postaxial polydactyly type A (ORPHA:93334)
Association type: UNKNOWN
Gene: KCNH5
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Association type: MENDELIAN
Gene: U2AF2
Disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Association type: MENDELIAN
Gene: AP1G1
Disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Association type: MENDELIAN
Gene: AP1G1
Disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Association type: MENDELIAN
Gene: AP1G1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SRP68
Disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Association type: MENDELIAN
Gene: SPPL2A
Disease: IMMUNODEFICIENCY 86 (OMIM:619549)
Association type: MENDELIAN
Gene: SYT1
Disease: BAKER-GORDON SYNDROME (OMIM:618218)
Association type: MENDELIAN
Gene: SYT1
Disease: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome; BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder (ORPHA:522077)
Association type: UNKNOWN
Gene: STAT6
Disease: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:620532)
Association type: MENDELIAN
Gene: STAT6
Disease: Solitary fibrous tumor; SFT (ORPHA:2126)
Association type: UNKNOWN
Gene: NDUFS8
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 (OMIM:618222)
Association type: MENDELIAN
Gene: NDUFS8
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: TBX2
Disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Association type: MENDELIAN
Gene: NDUFS7
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 (OMIM:618224)
Association type: MENDELIAN
Gene: NDUFS7
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: TNPO2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Association type: MENDELIAN
Gene: NDUFV1
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 (OMIM:618225)
Association type: MENDELIAN
Gene: NDUFV1
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: DHX38
Disease: RETINITIS PIGMENTOSA 84 (OMIM:618220)
Association type: MENDELIAN
Gene: DHX38
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: DHX38
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: FERRY3
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 (OMIM:618221)
Association type: MENDELIAN
Gene: FERRY3
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: KASH5
Disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Association type: MENDELIAN
Gene: KASH5
Disease: SPERMATOGENIC FAILURE 88 (OMIM:620547)
Association type: MENDELIAN
Gene: COG3
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Association type: MENDELIAN
Gene: ZNF407
Disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Association type: MENDELIAN
Gene: NDUFS1
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618226)
Association type: MENDELIAN
Gene: NDUFS1
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: NDUFS2
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618228)
Association type: MENDELIAN
Gene: NDUFS2
Disease: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2 (OMIM:620569)
Association type: MENDELIAN
Gene: NDUFS2
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: NDUFS2
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: ADAMTS15
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Association type: MENDELIAN
Gene: NDUFV2
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 (OMIM:618229)
Association type: MENDELIAN
Gene: NDUFV2
Disease: Progressive cavitating leukoencephalopathy (ORPHA:139447)
Association type: UNKNOWN
Gene: NDUFV2
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: VRK1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Association type: MENDELIAN
Gene: VRK1
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Association type: MENDELIAN
Gene: VRK1
Disease: Microcephaly-complex motor and sensory axonal neuropathy syndrome (ORPHA:423894)
Association type: UNKNOWN
Gene: VRK1
Disease: Pontocerebellar hypoplasia type 1; Norman disease; PCH1 (ORPHA:2254)
Association type: UNKNOWN
Gene: BICC1
Disease: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
Association type: POLYGENIC
Gene: BICC1
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: CNBP
Disease: MYOTONIC DYSTROPHY 2 (OMIM:602668)
Association type: MENDELIAN
Gene: CNBP
Disease: Proximal myotonic myopathy; Myotonic dystrophy type 2; Proximal myotonic dystrophy; Ricker disease; Ricker syndrome (ORPHA:606)
Association type: UNKNOWN
Gene: NDUFAF2
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Association type: MENDELIAN
Gene: NDUFAF2
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: AOPEP
Disease: DYSTONIA 31 (OMIM:619565)
Association type: MENDELIAN
Gene: NDUFAF1
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 (OMIM:618234)
Association type: MENDELIAN
Gene: NDUFAF1
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: JAG2
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Association type: MENDELIAN
Gene: NDUFA2
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 (OMIM:618235)
Association type: MENDELIAN
Gene: NDUFA2
Disease: Cystic leukoencephalopathy without megalencephaly; CLWM (ORPHA:85136)
Association type: UNKNOWN
Gene: NDUFA11
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (OMIM:618236)
Association type: MENDELIAN
Gene: NDUFA11
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: IL2RG
Disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Association type: MENDELIAN
Gene: IL2RG
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IL2RG
Disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Association type: MENDELIAN
Gene: IL2RG
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IL2RG
Disease: T-B+ severe combined immunodeficiency due to gamma chain deficiency; SCIDX1; T-B+ SCID due to gamma chain deficiency; T-B+ severe combined immunodeficiency, X-linked (ORPHA:276)
Association type: UNKNOWN
Gene: IL2RG
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: SRP54
Disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Association type: MENDELIAN
Gene: SRP54
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SRP54
Disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Association type: MENDELIAN
Gene: SRP54
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SRP54
Disease: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency; SCN-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency; Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to signal recognition protein 54 deficiency (ORPHA:675767)
Association type: UNKNOWN
Gene: CELF2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 (OMIM:619561)
Association type: MENDELIAN
Gene: CELF2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: NDUFS3
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 (OMIM:618230)
Association type: MENDELIAN
Gene: NDUFS3
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: TMEM218
Disease: JOUBERT SYNDROME 39 (OMIM:619562)
Association type: MENDELIAN
Gene: TMEM218
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: TMC8
Disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 (OMIM:618231)
Association type: POLYGENIC
Gene: TMC8
Disease: Inherited epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome; Lutz-Lewandowsky epidermodysplasia verruciformis (ORPHA:302)
Association type: UNKNOWN
Gene: NDUFS6
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 (OMIM:618232)
Association type: MENDELIAN
Gene: NDUFS6
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: NDUFAF4
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (OMIM:618237)
Association type: MENDELIAN
Gene: NDUFAF4
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: AXIN1
Disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Association type: MENDELIAN
Gene: AXIN1
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: AXIN1
Disease: CAUDAL DUPLICATION ANOMALY (OMIM:607864)
Association type: MENDELIAN
Gene: AXIN1
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: NDUFAF5
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 (OMIM:618238)
Association type: MENDELIAN
Gene: NDUFAF5
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: GPR156
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 121 (OMIM:620551)
Association type: MENDELIAN
Gene: MIEF1
Disease: OPTIC ATROPHY 14 (OMIM:620550)
Association type: MENDELIAN
Gene: L2HGDH
Disease: L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:236792)
Association type: MENDELIAN
Gene: L2HGDH
Disease: L-2-hydroxyglutaric aciduria; L-2-HGA; L-2-hydroxyglutaric acidemia (ORPHA:79314)
Association type: UNKNOWN
Gene: TAOK1
Disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Association type: MENDELIAN
Gene: TAOK1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: NDUFA12
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Association type: MENDELIAN
Gene: EXOSC5
Disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Association type: MENDELIAN
Gene: EXOSC5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EXOSC5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EXOSC5
Disease: Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome; Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome; Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome (ORPHA:641361)
Association type: UNKNOWN
Gene: NDUFB9
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 (OMIM:618245)
Association type: MENDELIAN
Gene: NDUFB9
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: NDUFB3
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (OMIM:618246)
Association type: MENDELIAN
Gene: NDUFB3
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: NDUFA9
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 (OMIM:618247)
Association type: MENDELIAN
Gene: NDUFAF3
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Association type: MENDELIAN
Gene: NDUFAF3
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: FOXRED1
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Association type: MENDELIAN
Gene: FOXRED1
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: DEF6
Disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Association type: MENDELIAN
Gene: NUBPL
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (OMIM:618242)
Association type: MENDELIAN
Gene: NUBPL
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: NDUFA10
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 (OMIM:618243)
Association type: MENDELIAN
Gene: BRD4
Disease: CORNELIA DE LANGE SYNDROME 6 (OMIM:620568)
Association type: MENDELIAN
Gene: BRD4
Disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Association type: UNKNOWN
Gene: BRD4
Disease: NUT midline carcinoma; NMC (ORPHA:443167)
Association type: UNKNOWN
Gene: MTFMT
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Association type: MENDELIAN
Gene: MTFMT
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Association type: MENDELIAN
Gene: MTFMT
Disease: Combined oxidative phosphorylation defect type 15; COXPD15 (ORPHA:319524)
Association type: UNKNOWN
Gene: NDUFA13
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Association type: MENDELIAN
Gene: NDUFA13
Disease: THYROID CARCINOMA, HURTHLE CELL (OMIM:607464)
Association type: POLYGENIC
Gene: NDUFA13
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: CUL7
Disease: THREE M SYNDROME 1 (OMIM:273750)
Association type: MENDELIAN
Gene: CUL7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CUL7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CUL7
Disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Association type: UNKNOWN
Gene: ARPC5
Disease: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION (OMIM:620565)
Association type: MENDELIAN
Gene: GRIK2
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES (OMIM:619580)
Association type: MENDELIAN
Gene: GRIK2
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
Association type: MENDELIAN
Gene: GRIK2
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: GRIK2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TMEM126B
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 (OMIM:618250)
Association type: MENDELIAN
Gene: TMEM126B
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: BDP1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 112 (OMIM:618257)
Association type: MENDELIAN
Gene: BDP1
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: EYA4
Disease: DEAFNESS, AUTOSOMAL DOMINANT 10 (OMIM:601316)
Association type: MENDELIAN
Gene: EYA4
Disease: CARDIOMYOPATHY, DILATED, 1J (OMIM:605362)
Association type: MENDELIAN