TaoMedAI/RareMedData huggingface dataset:
Gene: DEPDC5
Disease: Autosomal dominant epilepsy with auditory features; ADEAF; ADLTE; ADPEAF; Autosomal dominant lateral temporal lobe epilepsy; Partial epilepsy with auditory aura; Partial epilepsy with auditory features (ORPHA:101046)
Association type: UNKNOWN
Gene: DEPDC5
Disease: Autosomal dominant nocturnal frontal lobe epilepsy; ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy (ORPHA:98784)
Association type: UNKNOWN
Gene: DEPDC5
Disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Association type: UNKNOWN
Gene: RBM12
Disease: SCHIZOPHRENIA 19 (OMIM:617629)
Association type: POLYGENIC
Gene: COLQ
Disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Association type: MENDELIAN
Gene: COLQ
Disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Association type: UNKNOWN
Gene: C12orf57
Disease: TEMTAMY SYNDROME (OMIM:218340)
Association type: MENDELIAN
Gene: SPG11
Disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Association type: MENDELIAN
Gene: SPG11
Disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Association type: MENDELIAN
Gene: SPG11
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Association type: MENDELIAN
Gene: SPG11
Disease: Autosomal recessive spastic paraplegia type 11; Nakamura-Osame syndrome; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome (ORPHA:2822)
Association type: UNKNOWN
Gene: SPG11
Disease: Juvenile amyotrophic lateral sclerosis; JALS; Juvenile Charcot disease; Juvenile Lou Gehrig disease (ORPHA:300605)
Association type: UNKNOWN
Gene: SPG11
Disease: Autosomal recessive Charcot-Marie-Tooth disease type 2X; ARCMT2X; Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation; CMT2X (ORPHA:466775)
Association type: UNKNOWN
Gene: CHN1
Disease: DUANE RETRACTION SYNDROME 2 (OMIM:604356)
Association type: MENDELIAN
Gene: CHN1
Disease: Duane retraction syndrome; DRS; DURS; Duane syndrome; Stilling-Turk-Duane syndrome (ORPHA:233)
Association type: UNKNOWN
Gene: ACOX1
Disease: MITCHELL SYNDROME (OMIM:618960)
Association type: MENDELIAN
Gene: ACOX1
Disease: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (OMIM:264470)
Association type: MENDELIAN
Gene: ACOX1
Disease: Mitchell Syndrome (ORPHA:631248)
Association type: UNKNOWN
Gene: ACOX1
Disease: Peroxisomal acyl-CoA oxidase deficiency; Pseudo-NALD; Pseudo-neonatal adrenoleukodystrophy; Pseudoadrenoleukodystrophy (ORPHA:2971)
Association type: UNKNOWN
Gene: PLCB3
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY (OMIM:618961)
Association type: MENDELIAN
Gene: PLCB3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PLCB3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PLCB3
Disease: Spondylometaphyseal dysplasia-corneal dystrophy syndrome; SMD-corneal dystrophy syndrome (ORPHA:589435)
Association type: UNKNOWN
Gene: STAG1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 (OMIM:617635)
Association type: MENDELIAN
Gene: STAG1
Disease: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
Association type: UNKNOWN
Gene: LRP4
Disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Association type: MENDELIAN
Gene: LRP4
Disease: SCLEROSTEOSIS 2 (OMIM:614305)
Association type: MENDELIAN
Gene: LRP4
Disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Association type: MENDELIAN
Gene: LRP4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LRP4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LRP4
Disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Association type: UNKNOWN
Gene: LRP4
Disease: Cenani-Lenz syndrome; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7 (ORPHA:3258)
Association type: UNKNOWN
Gene: LRP4
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: IVNS1ABP
Disease: IMMUNODEFICIENCY 70 (OMIM:618969)
Association type: MENDELIAN
Gene: XRCC1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 (OMIM:617633)
Association type: MENDELIAN
Gene: TAS2R38
Disease: THIOUREA TASTING (OMIM:171200)
Association type: MENDELIAN
Gene: WBP2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 107 (OMIM:617639)
Association type: MENDELIAN
Gene: WBP2
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: WDR19
Disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Association type: MENDELIAN
Gene: WDR19
Disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Association type: MENDELIAN
Gene: WDR19
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Association type: MENDELIAN
Gene: WDR19
Disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Association type: MENDELIAN
Gene: WDR19
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: WDR19
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: WDR19
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WDR19
Disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Association type: MENDELIAN
Gene: WDR19
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: WDR19
Disease: Cranioectodermal dysplasia; CED; Sensenbrenner syndrome (ORPHA:1515)
Association type: UNKNOWN
Gene: WDR19
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: WDR19
Disease: Juvenile nephronophthisis (ORPHA:93592)
Association type: UNKNOWN
Gene: EPS8L2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 106 (OMIM:617637)
Association type: MENDELIAN
Gene: EPS8L2
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: ADGRV1
Disease: FEBRILE SEIZURES, FAMILIAL, 4 (OMIM:604352)
Association type: MENDELIAN
Gene: ADGRV1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ADGRV1
Disease: USHER SYNDROME, TYPE IIC (OMIM:605472)
Association type: MENDELIAN
Gene: ADGRV1
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: ADGRV1
Disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Association type: UNKNOWN
Gene: PER2
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 (OMIM:604348)
Association type: MENDELIAN
Gene: PER2
Disease: Familial advanced sleep-phase syndrome; FASPS (ORPHA:164736)
Association type: UNKNOWN
Gene: PRPS1
Disease: DEAFNESS, X-LINKED 1 (OMIM:304500)
Association type: MENDELIAN
Gene: PRPS1
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Association type: MENDELIAN
Gene: PRPS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRPS1
Disease: ARTS SYNDROME (OMIM:301835)
Association type: MENDELIAN
Gene: PRPS1
Disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Association type: MENDELIAN
Gene: PRPS1
Disease: X-linked Charcot-Marie-Tooth disease type 5; CMT5X; CMTX5 (ORPHA:99014)
Association type: UNKNOWN
Gene: PRPS1
Disease: Rare X-linked non-syndromic sensorineural deafness type DFN; X-linked isolated neurosensory deafness type DFN; X-linked isolated neurosensory hearing loss type DFN; X-linked isolated sensorineural deafness type DFN; X-linked isolated sensorineural hearing loss type DFN; X-linked non-syndromic neurosensory deafness type DFN; X-linked non-syndromic neurosensory hearing loss type DFN; X-linked non-syndromic sensorineural hearing loss type DFN (ORPHA:90625)
Association type: UNKNOWN
Gene: PRPS1
Disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency; X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome (ORPHA:423479)
Association type: UNKNOWN
Gene: PRPS1
Disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPP synthetase superactivity; Severe PRPS1 superactivity (ORPHA:411543)
Association type: UNKNOWN
Gene: PRPS1
Disease: Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity; Mild PRPS1 superactivity (ORPHA:411536)
Association type: UNKNOWN
Gene: PRPS1
Disease: Lethal ataxia with deafness and optic atrophy; Arts syndrome; Lethal ataxia with hearing loss and optic atrophy (ORPHA:1187)
Association type: UNKNOWN
Gene: ATP8B1
Disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (OMIM:243300)
Association type: MENDELIAN
Gene: ATP8B1
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 (OMIM:147480)
Association type: MENDELIAN
Gene: ATP8B1
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Association type: MENDELIAN
Gene: ATP8B1
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Association type: MENDELIAN
Gene: ATP8B1
Disease: Benign recurrent intrahepatic cholestasis type 1; BRIC type 1; BRIC1 (ORPHA:99960)
Association type: UNKNOWN
Gene: ATP8B1
Disease: Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis; Recurrent intrahepatic cholestasis of pregnancy (ORPHA:69665)
Association type: UNKNOWN
Gene: ATP8B1
Disease: Progressive familial intrahepatic cholestasis type 1; Byler disease; FIC1 deficiency; PFIC1 (ORPHA:79306)
Association type: UNKNOWN
Gene: NRG1
Disease: SCHIZOPHRENIA 6 (OMIM:603013)
Association type: POLYGENIC
Gene: RIMS2
Disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Association type: MENDELIAN
Gene: RIMS2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SOX6
Disease: TOLCHIN-LE CAIGNEC SYNDROME (OMIM:618971)
Association type: MENDELIAN
Gene: SLC25A10
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Association type: MENDELIAN
Gene: SLC5A6
Disease: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (OMIM:618973)
Association type: MENDELIAN
Gene: SLC5A6
Disease: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE (OMIM:619903)
Association type: MENDELIAN
Gene: IQCE
Disease: POLYDACTYLY, POSTAXIAL, TYPE A7 (OMIM:617642)
Association type: MENDELIAN
Gene: IQCE
Disease: Postaxial polydactyly type A (ORPHA:93334)
Association type: UNKNOWN
Gene: PBX1
Disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Association type: MENDELIAN
Gene: PBX1
Disease: Renal hypoplasia, bilateral (ORPHA:97362)
Association type: UNKNOWN
Gene: PBX1
Disease: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 (ORPHA:585956)
Association type: UNKNOWN
Gene: PBX1
Disease: PBX1-related congenital anomalies of kidney and urinary tract syndrome; PBX1-related syndromic CAKUT (ORPHA:656130)
Association type: UNKNOWN
Gene: CHRNB1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616314)
Association type: MENDELIAN
Gene: CHRNB1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
Association type: MENDELIAN
Gene: CHRNB1
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: BRDT
Disease: SPERMATOGENIC FAILURE 21 (OMIM:617644)
Association type: MENDELIAN
Gene: KAT8
Disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Association type: MENDELIAN
Gene: KAT8
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MYOD1
Disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Association type: MENDELIAN
Gene: MYOD1
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: C1QTNF5
Disease: LATE-ONSET RETINAL DEGENERATION (OMIM:605670)
Association type: MENDELIAN
Gene: C1QTNF5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: C1QTNF5
Disease: Late-onset retinal degeneration; Autosomal dominant late-onset retinal degeneration; LORD (ORPHA:67042)
Association type: UNKNOWN
Gene: SERPINI1
Disease: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (OMIM:604218)
Association type: MENDELIAN
Gene: SERPINI1
Disease: Progressive dementia with neuroserpin inclusion bodies; Late-onset familial encephalopathy with neuroserpin inclusion bodies (ORPHA:530303)
Association type: UNKNOWN
Gene: CRYAA
Disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Association type: MENDELIAN
Gene: CRYAA
Disease: Cataract-microcornea syndrome (ORPHA:1377)
Association type: UNKNOWN
Gene: CRYAA
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: CRYAA
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYAA
Disease: Early-onset anterior polar cataract; Early-onset anterior subcapsular cataract (ORPHA:98988)
Association type: UNKNOWN
Gene: CRYAA
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: SNCA
Disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Association type: MENDELIAN
Gene: SNCA
Disease: DEMENTIA, LEWY BODY (OMIM:127750)
Association type: MENDELIAN
Gene: SNCA
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Association type: MENDELIAN
Gene: SNCA
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: SNCA
Disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Association type: UNKNOWN
Gene: SNCA
Disease: Hereditary late-onset Parkinson disease; Autosomal dominant late-onset Parkinson disease; LOPD (ORPHA:411602)
Association type: UNKNOWN
Gene: GPSM2
Disease: CHUDLEY-MCCULLOUGH SYNDROME (OMIM:604213)
Association type: MENDELIAN
Gene: GPSM2
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: GPSM2
Disease: Chudley-McCullough syndrome (ORPHA:314597)
Association type: UNKNOWN
Gene: ATXN3
Disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Association type: MENDELIAN
Gene: ATXN3
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: POLYGENIC
Gene: ATXN3
Disease: Machado-Joseph disease type 1; SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type (ORPHA:276238)
Association type: UNKNOWN
Gene: ATXN3
Disease: Machado-Joseph disease type 3; SCA3, Machado type; Spinocerebellar ataxia type 3, Machado type (ORPHA:276244)
Association type: UNKNOWN
Gene: ATXN3
Disease: Machado-Joseph disease type 2; SCA3, Thomas type; Spinocerebellar ataxia, Thomas type (ORPHA:276241)
Association type: UNKNOWN
Gene: ADARB1
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Association type: MENDELIAN
Gene: ACBD5
Disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Association type: MENDELIAN
Gene: ACBD5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SLC45A1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Association type: MENDELIAN
Gene: SLC45A1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: SGO1
Disease: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA (OMIM:616201)
Association type: MENDELIAN
Gene: SGO1
Disease: Chronic atrial and intestinal dysrhythmia syndrome; CAID syndrome; Chronic atrial dysrhythmia-intestinal motility disorder (ORPHA:435988)
Association type: UNKNOWN
Gene: SPRTN
Disease: RUIJS-AALFS SYNDROME (OMIM:616200)
Association type: MENDELIAN
Gene: SPRTN
Disease: Progeroid features-hepatocellular carcinoma predisposition syndrome; Ruijs-Aalfs syndrome (ORPHA:435953)
Association type: UNKNOWN
Gene: CUBN
Disease: IMERSLUND-GRASBECK SYNDROME 1 (OMIM:261100)
Association type: MENDELIAN
Gene: CUBN
Disease: PROTEINURIA, CHRONIC BENIGN (OMIM:618884)
Association type: MENDELIAN
Gene: CUBN
Disease: Imerslund-Gräsbeck syndrome; Familial megaloblastic anemia; Selective cobalamin malabsorption with proteinuria (ORPHA:35858)
Association type: UNKNOWN
Gene: SLC44A1
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Association type: MENDELIAN
Gene: GRID2
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Association type: MENDELIAN
Gene: GRID2
Disease: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; SCAR18 (ORPHA:363432)
Association type: UNKNOWN
Gene: ZFHX2
Disease: MARSILI SYNDROME (OMIM:147430)
Association type: MENDELIAN
Gene: ZFHX2
Disease: Congenital insensitivity to pain syndrome, Marsili type; Marsili syndrome (ORPHA:653728)
Association type: UNKNOWN
Gene: BRF1
Disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Association type: MENDELIAN
Gene: BRF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BRF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BRF1
Disease: Cerebellar-facial-dental syndrome; Cerebellofaciodental syndrome (ORPHA:444072)
Association type: UNKNOWN
Gene: TUBA4A
Disease: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
Association type: MENDELIAN
Gene: TUBA4A
Disease:  (OMIM:621231)
Association type: MENDELIAN
Gene: TUBA4A
Disease:  (OMIM:621226)
Association type: MENDELIAN
Gene: TUBA4A
Disease:  (OMIM:621225)
Association type: MENDELIAN
Gene: NOTCH2NLC
Disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Association type: MENDELIAN
Gene: NOTCH2NLC
Disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Association type: MENDELIAN
Gene: NOTCH2NLC
Disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Association type: MENDELIAN
Gene: NOTCH2NLC
Disease: Oculopharyngodistal myopathy; OPDM; Oculopharyngeal distal myopathy (ORPHA:98897)
Association type: UNKNOWN
Gene: NOTCH2NLC
Disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Association type: UNKNOWN
Gene: H1-4
Disease: RAHMAN SYNDROME (OMIM:617537)
Association type: MENDELIAN
Gene: H1-4
Disease: Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation; H1-4-related neurodevelopmental disorder; Rahman syndrome (ORPHA:642763)
Association type: UNKNOWN
Gene: SDHB
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA (OMIM:606864)
Association type: MENDELIAN
Gene: SDHB
Disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Association type: MENDELIAN
Gene: SDHB
Disease: PARAGANGLIOMAS 4 (OMIM:115310)
Association type: MENDELIAN
Gene: SDHB
Disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Association type: MENDELIAN
Gene: SDHB
Disease: Carney-Stratakis syndrome; Carney dyad; Carney-Stratakis dyad; GIST-paraganglioma dyad; Paraganglioma and gastric stromal sarcoma (ORPHA:97286)
Association type: UNKNOWN
Gene: SDHB
Disease: Isolated succinate-CoQ reductase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate dehydrogenase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Association type: UNKNOWN
Gene: SDHB
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: SDHB
Disease: Gastrointestinal stromal tumor; GIST; Gastrointestinal stromal sarcoma (ORPHA:44890)
Association type: UNKNOWN
Gene: SDHB
Disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Association type: UNKNOWN
Gene: SDHB
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: SDHC
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA (OMIM:606864)
Association type: MENDELIAN
Gene: SDHC
Disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Association type: MENDELIAN
Gene: SDHC
Disease: PARAGANGLIOMAS 3 (OMIM:605373)
Association type: MENDELIAN
Gene: SDHC
Disease: Carney-Stratakis syndrome; Carney dyad; Carney-Stratakis dyad; GIST-paraganglioma dyad; Paraganglioma and gastric stromal sarcoma (ORPHA:97286)
Association type: UNKNOWN
Gene: SDHC
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: SDHC
Disease: Gastrointestinal stromal tumor; GIST; Gastrointestinal stromal sarcoma (ORPHA:44890)
Association type: UNKNOWN
Gene: SDHC
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: SDHD
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA (OMIM:606864)
Association type: MENDELIAN
Gene: SDHD
Disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Association type: MENDELIAN
Gene: SDHD
Disease: PARAGANGLIOMAS 1 (OMIM:168000)
Association type: MENDELIAN
Gene: SDHD
Disease: Carney-Stratakis syndrome; Carney dyad; Carney-Stratakis dyad; GIST-paraganglioma dyad; Paraganglioma and gastric stromal sarcoma (ORPHA:97286)
Association type: UNKNOWN
Gene: SDHD
Disease: Isolated succinate-CoQ reductase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate dehydrogenase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Association type: UNKNOWN
Gene: SDHD
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: SDHD
Disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Association type: UNKNOWN
Gene: SDHD
Disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Association type: UNKNOWN
Gene: SDHD
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: MED12L
Disease: NIZON-ISIDOR SYNDROME (OMIM:618872)
Association type: MENDELIAN
Gene: MED12L
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: CEP85L
Disease: LISSENCEPHALY 10 (OMIM:618873)
Association type: MENDELIAN
Gene: CEP85L
Disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Association type: UNKNOWN
Gene: KATNB1
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Association type: MENDELIAN