TaoMedAI/RareMedData huggingface dataset:
Gene: ZAP70
Disease: Combined immunodeficiency due to ZAP70 deficiency; Zeta-associated-protein 70 deficiency (ORPHA:911)
Association type: UNKNOWN
Gene: TINF2
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990)
Association type: MENDELIAN
Gene: TINF2
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 (OMIM:127550)
Association type: MENDELIAN
Gene: TINF2
Disease: REVESZ SYNDROME (OMIM:268130)
Association type: MENDELIAN
Gene: TINF2
Disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Association type: UNKNOWN
Gene: TINF2
Disease: Revesz syndrome; Dyskeratosis congenita with bilateral exudative retinopathy; Retinopathy-anemia-central nervous system anomalies syndrome; Revesz-DeBuse syndrome (ORPHA:3088)
Association type: UNKNOWN
Gene: TINF2
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: BIN1
Disease: MYOPATHY, CENTRONUCLEAR, 2 (OMIM:255200)
Association type: MENDELIAN
Gene: BIN1
Disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Association type: UNKNOWN
Gene: BIN1
Disease: Autosomal dominant centronuclear myopathy; AD-CNM (ORPHA:169189)
Association type: UNKNOWN
Gene: CLN8
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Association type: MENDELIAN
Gene: CLN8
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Association type: MENDELIAN
Gene: CLN8
Disease:  (ORPHA:700484)
Association type: UNKNOWN
Gene: CLN8
Disease: Progressive epilepsy-intellectual disability syndrome, Finnish type; CLN8 disease, Northern epilepsy variant; NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; Northern epilepsy (ORPHA:1947)
Association type: UNKNOWN
Gene: TNFRSF1A
Disease: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT (OMIM:142680)
Association type: MENDELIAN
Gene: TNFRSF1A
Disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5 (OMIM:614810)
Association type: POLYGENIC
Gene: TNFRSF1A
Disease: Intermittent hydrarthrosis (ORPHA:329967)
Association type: UNKNOWN
Gene: TNFRSF1A
Disease: Tumor necrosis factor receptor 1 associated periodic syndrome; Familial Hibernian fever; TNF receptor 1-associated periodic syndrome; TRAPS syndrome (ORPHA:32960)
Association type: UNKNOWN
Gene: ACADSB
Disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Association type: MENDELIAN
Gene: ACADSB
Disease: 2-methylbutyryl-CoA dehydrogenase deficiency; 2-methylbutyric aciduria; Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency; SBCAD deficiency; Short/branched-chain acyl-coA dehydrogenase deficiency (ORPHA:79157)
Association type: UNKNOWN
Gene: UFSP2
Disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Association type: MENDELIAN
Gene: UFSP2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Association type: MENDELIAN
Gene: UFSP2
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Association type: MENDELIAN
Gene: UFSP2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: UFSP2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: UFSP2
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: UFSP2
Disease: Hip dysplasia, Beukes type; BFHD; Beukes familial hip dysplasia; Cilliers-Beighton syndrome; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Association type: UNKNOWN
Gene: AP2S1
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III (OMIM:600740)
Association type: MENDELIAN
Gene: AP2S1
Disease: Familial hypocalciuric hypercalcemia type 3; FHH type 3 (ORPHA:101050)
Association type: UNKNOWN
Gene: TBX20
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: TBX20
Disease: ATRIAL SEPTAL DEFECT 4 (OMIM:611363)
Association type: MENDELIAN
Gene: TBX20
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TBX20
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: TBX20
Disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Association type: UNKNOWN
Gene: MYL4
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: MYL4
Disease: ATRIAL FIBRILLATION, FAMILIAL, 18 (OMIM:617280)
Association type: MENDELIAN
Gene: MYL4
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: HEY2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: HEY2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: HEY2
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: SLC4A3
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: SLC4A3
Disease: SHORT QT SYNDROME 7 (OMIM:620231)
Association type: MENDELIAN
Gene: SLC4A3
Disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Association type: UNKNOWN
Gene: TCAP
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: TCAP
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 (OMIM:607487)
Association type: MENDELIAN
Gene: TCAP
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Association type: MENDELIAN
Gene: TCAP
Disease: Telethonin-related limb-girdle muscular dystrophy R7; Autosomal recessive limb-girdle muscular dystrophy type 2G; LGMD due to telethonin deficiency; LGMD type 2G; LGMD2G; Limb-girdle muscular dystrophy due to telethonin deficiency; Limb-girdle muscular dystrophy type 2G; Telethonin-related LGMD R7 (ORPHA:34514)
Association type: UNKNOWN
Gene: TCAP
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: RYR2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: RYR2
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Association type: MENDELIAN
Gene: RYR2
Disease: Catecholaminergic polymorphic ventricular tachycardia; Bidirectional ventricular tachycardia induced by catecholamine; CPVT; Malignant paroxysmal ventricular tachycardia; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Association type: UNKNOWN
Gene: RYR2
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: RYR2
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: RYR2
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: KCNH2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCNH2
Disease: SHORT QT SYNDROME 1 (OMIM:609620)
Association type: MENDELIAN
Gene: KCNH2
Disease: LONG QT SYNDROME 2 (OMIM:613688)
Association type: MENDELIAN
Gene: KCNH2
Disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Association type: UNKNOWN
Gene: KCNH2
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: PPA2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: PPA2
Disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED (OMIM:617223)
Association type: MENDELIAN
Gene: PPA2
Disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Association type: MENDELIAN
Gene: JPH2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: JPH2
Disease: CARDIOMYOPATHY, DILATED, 2E (OMIM:619492)
Association type: MENDELIAN
Gene: JPH2
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 (OMIM:613873)
Association type: MENDELIAN
Gene: JPH2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: NPPA
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: NPPA
Disease: ATRIAL STANDSTILL 2 (OMIM:615745)
Association type: MENDELIAN
Gene: NPPA
Disease: ATRIAL FIBRILLATION, FAMILIAL, 6 (OMIM:612201)
Association type: MENDELIAN
Gene: NPPA
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: NPPA
Disease: Atrial standstill; Atrial cardiomyopathy with heart block (ORPHA:1344)
Association type: UNKNOWN
Gene: KCNE1
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCNE1
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (OMIM:612347)
Association type: MENDELIAN
Gene: KCNE1
Disease: LONG QT SYNDROME 5 (OMIM:613695)
Association type: MENDELIAN
Gene: KCNE1
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: KCNE1
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: KCNE1
Disease: Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome; Long QT interval-hearing loss syndrome (ORPHA:90647)
Association type: UNKNOWN
Gene: IRX3
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: POPDC2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: CASQ2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: CASQ2
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Association type: MENDELIAN
Gene: CASQ2
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Association type: MENDELIAN
Gene: CASQ2
Disease: Catecholaminergic polymorphic ventricular tachycardia; Bidirectional ventricular tachycardia induced by catecholamine; CPVT; Malignant paroxysmal ventricular tachycardia; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Association type: UNKNOWN
Gene: HCN4
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: HCN4
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18 (OMIM:619521)
Association type: POLYGENIC
Gene: HCN4
Disease: BRUGADA SYNDROME 8 (OMIM:613123)
Association type: MENDELIAN
Gene: HCN4
Disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Association type: MENDELIAN
Gene: HCN4
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: HCN4
Disease: Familial sick sinus syndrome (ORPHA:166282)
Association type: UNKNOWN
Gene: LAMP2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: LAMP2
Disease: DANON DISEASE (OMIM:300257)
Association type: MENDELIAN
Gene: LAMP2
Disease: Danon disease; GSD due to LAMP-2 deficiency; GSD, type 2B; GSD, type IIb; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease, type 2B; Glycogen storage disease, type IIb; Glycogenosis due to LAMP-2 deficiency; Lysosomal glycogen storage disease with normal acid maltase activity (ORPHA:34587)
Association type: UNKNOWN
Gene: KCNA5
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCNA5
Disease: ATRIAL FIBRILLATION, FAMILIAL, 7 (OMIM:612240)
Association type: MENDELIAN
Gene: KCNA5
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: PLN
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: PLN
Disease: CARDIOMYOPATHY, DILATED, 1P (OMIM:609909)
Association type: MENDELIAN
Gene: PLN
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 (OMIM:613874)
Association type: MENDELIAN
Gene: PLN
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: PLN
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: ALG10B
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: ALG10B
Disease: LONG QT SYNDROME 2 (OMIM:613688)
Association type: POLYGENIC
Gene: AKAP9
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: AKAP9
Disease: LONG QT SYNDROME 11 (OMIM:611820)
Association type: MENDELIAN
Gene: AKAP9
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: AKAP9
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: RRAD
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: GJC1
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: HOOK3
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCNAB2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCNAB2
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: ANK3
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: ANK3
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Association type: MENDELIAN
Gene: ANK3
Disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Association type: UNKNOWN
Gene: GJA5
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: GJA5
Disease: ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)
Association type: MENDELIAN
Gene: GJA5
Disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Association type: MENDELIAN
Gene: GJA5
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GJA5
Disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Association type: MENDELIAN
Gene: GJA5
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: GJA5
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: GNB2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: GNB2
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Association type: MENDELIAN
Gene: GNB2
Disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Association type: MENDELIAN
Gene: GNB2
Disease: Familial sick sinus syndrome (ORPHA:166282)
Association type: UNKNOWN
Gene: GNB2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TECRL
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: TECRL
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Association type: MENDELIAN
Gene: TECRL
Disease: Catecholaminergic polymorphic ventricular tachycardia; Bidirectional ventricular tachycardia induced by catecholamine; CPVT; Malignant paroxysmal ventricular tachycardia; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Association type: UNKNOWN
Gene: TNNI3K
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: TNNI3K
Disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Association type: MENDELIAN
Gene: TNNI3K
Disease: Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease (ORPHA:436242)
Association type: UNKNOWN
Gene: CACNA1C
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: CACNA1C
Disease: TIMOTHY SYNDROME (OMIM:601005)
Association type: MENDELIAN
Gene: CACNA1C
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES (OMIM:620029)
Association type: MENDELIAN
Gene: CACNA1C
Disease: BRUGADA SYNDROME 3 (OMIM:611875)
Association type: MENDELIAN
Gene: CACNA1C
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CACNA1C
Disease: LONG QT SYNDROME 8 (OMIM:618447)
Association type: MENDELIAN
Gene: CACNA1C
Disease: Timothy syndrome type 1; LQT8 type 1; TS1 (ORPHA:595098)
Association type: UNKNOWN
Gene: CACNA1C
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: CACNA1C
Disease: Timothy syndrome type 2; LQT8 type 2; TS2 (ORPHA:595105)
Association type: UNKNOWN
Gene: CACNA1C
Disease: Atypical Timothy syndrome; ATS; Atypical LQT8 (ORPHA:595109)
Association type: UNKNOWN
Gene: CACNA1C
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: CACNA1C
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: RANGRF
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: RANGRF
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: TRDN
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: TRDN
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Association type: MENDELIAN
Gene: TRDN
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441)
Association type: MENDELIAN
Gene: TRDN
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: TRDN
Disease: Catecholaminergic polymorphic ventricular tachycardia; Bidirectional ventricular tachycardia induced by catecholamine; CPVT; Malignant paroxysmal ventricular tachycardia; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Association type: UNKNOWN
Gene: CALM3
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: CALM3
Disease: LONG QT SYNDROME 16 (OMIM:618782)
Association type: MENDELIAN
Gene: CALM3
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: CALM3
Disease: Catecholaminergic polymorphic ventricular tachycardia; Bidirectional ventricular tachycardia induced by catecholamine; CPVT; Malignant paroxysmal ventricular tachycardia; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Association type: UNKNOWN
Gene: BMPR2
Disease: PULMONARY HYPERTENSION, PRIMARY, 1 (OMIM:178600)
Association type: MENDELIAN
Gene: BMPR2
Disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT (OMIM:265450)
Association type: MENDELIAN
Gene: BMPR2
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: BMPR2
Disease: Drug- or toxin-induced pulmonary arterial hypertension; Drug- or toxin-induced PAH (ORPHA:275786)
Association type: UNKNOWN
Gene: BMPR2
Disease: Pulmonary venoocclusive disease (ORPHA:31837)
Association type: UNKNOWN
Gene: SLC17A3
Disease: URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4 (OMIM:612671)
Association type: POLYGENIC
Gene: ABHD12
Disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Association type: MENDELIAN
Gene: ABHD12
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ABHD12
Disease: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome; PHARC syndrome; Peripheral neuropathy, Fiskerstrand type; Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome (ORPHA:171848)
Association type: UNKNOWN
Gene: AIFM1
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Association type: MENDELIAN
Gene: AIFM1
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Association type: MENDELIAN
Gene: AIFM1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: AIFM1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Association type: MENDELIAN
Gene: AIFM1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: AIFM1
Disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Association type: MENDELIAN
Gene: AIFM1
Disease: X-linked Charcot-Marie-Tooth disease type 4; CMT4X; CMTX4; Cowchock syndrome (ORPHA:101078)
Association type: UNKNOWN
Gene: AIFM1
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness; X-linked HSAN with deafness; X-linked HSAN with hearing loss; X-linked auditory neuropathy with peripheral sensory neuropathy type 1; X-linked hereditary sensory and autonomic neuropathy with hearing loss (ORPHA:139583)
Association type: UNKNOWN
Gene: AIFM1
Disease: Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to COXPD6; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Association type: UNKNOWN
Gene: AIFM1
Disease: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Association type: UNKNOWN
Gene: GLUL
Disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Association type: MENDELIAN
Gene: GLUL
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Association type: MENDELIAN