Phenotype: Ventricular arrhythmia (HP:0004308)
Associated genes and diseases:
gene_symbol: MYL2
disease_id: OMIM:608758
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: PRKAG2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: MYBPC3
disease_id: OMIM:115197
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
gene_symbol: NDUFB11
disease_id: OMIM:300952
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
gene_symbol: TECRL
disease_id: OMIM:614021
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
gene_symbol: TECRL
disease_id: ORPHA:3286
disease_name: Catecholaminergic polymorphic ventricular tachycardia
Bidirectional ventricular tachycardia induced by catecholamine
CPVT
Malignant paroxysmal ventricular tachycardia
Polymorphic ventricular tachycardia induced by catecholamines
gene_symbol: TECRL
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: CASQ2
disease_id: ORPHA:3286
disease_name: Catecholaminergic polymorphic ventricular tachycardia
Bidirectional ventricular tachycardia induced by catecholamine
CPVT
Malignant paroxysmal ventricular tachycardia
Polymorphic ventricular tachycardia induced by catecholamines
gene_symbol: CASQ2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: RYR2
disease_id: ORPHA:3286
disease_name: Catecholaminergic polymorphic ventricular tachycardia
Bidirectional ventricular tachycardia induced by catecholamine
CPVT
Malignant paroxysmal ventricular tachycardia
Polymorphic ventricular tachycardia induced by catecholamines
gene_symbol: RYR2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: MYL3
disease_id: OMIM:608751
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: ACADVL
disease_id: ORPHA:26793
disease_name: Very long chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: NKX2-5
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: TBX20
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: MYL4
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: HEY2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: TCAP
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: PPA2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: JPH2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: NPPA
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: IRX3
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: POPDC2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: LAMP2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: KCNA5
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: DPP6
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: DPP6
disease_id: OMIM:612956
disease_name: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2
gene_symbol: ALG10B
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: ALG10B
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
gene_symbol: RRAD
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: GJC1
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: HOOK3
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: KCNAB2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: ANK3
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: GJA5
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: GNB2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: TNNI3K
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: TNNT2
disease_id: OMIM:115000
disease_name: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME
gene_symbol: GYG1
disease_id: ORPHA:263297
disease_name: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
GSD type 15
GSD type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis type 15
Glycogenosis type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
gene_symbol: GYG1
disease_id: OMIM:613507
disease_name: GLYCOGEN STORAGE DISEASE XV
gene_symbol: TNNC1
disease_id: OMIM:613243
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: BAG5
disease_id: OMIM:619747
disease_name: CARDIOMYOPATHY, DILATED, 2F
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: DSP
disease_id: OMIM:607450
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: MT-TS1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TS1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TS2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TL1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TC
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TQ
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TQ
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TV
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TW
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TW
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TF
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TF
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TK
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TH
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TH
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: BMP2
disease_id: ORPHA:261295
disease_name: 20p12.3 microdeletion syndrome
Del(20)(p12.3)
Monosomy 20p12.3
gene_symbol: NDUFAF1
disease_id: OMIM:618234
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: ATP1A3
disease_id: OMIM:601338
disease_name: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
gene_symbol: MRPS14
disease_id: OMIM:618378
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
gene_symbol: JAG2
disease_id: OMIM:619566
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27
gene_symbol: TNNI3
disease_id: OMIM:613690
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: TSC1
disease_id: OMIM:191100
disease_name: TUBEROUS SCLEROSIS 1
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: GTPBP3
disease_id: ORPHA:444013
disease_name: Combined oxidative phosphorylation defect type 23
COXPD23
gene_symbol: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: CALM1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNJ5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: CALM2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TBX5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN10A
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN10A
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: KCNH2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNH2
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: KCNE2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: AKAP9
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: AKAP9
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: NOS1AP
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CACNA1C
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CACNA1C
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: CACNA1C
disease_id: OMIM:611875
disease_name: BRUGADA SYNDROME 3
gene_symbol: KCNQ1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNQ1
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: TRDN
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN5A
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN5A
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SCN4B
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CALM3
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SNTA1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CAV3
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CAV3
disease_id: OMIM:611818
disease_name: LONG QT SYNDROME 9
gene_symbol: ANK2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: ORPHA:300751
disease_name: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: LMNA
disease_id: OMIM:115200
disease_name: CARDIOMYOPATHY, DILATED, 1A
gene_symbol: KCNE5
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SEMA3A
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: TRPM4
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: HCN4
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: KCNJ8
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: KCND3
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: PKP2
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SLMAP
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: ABCC9
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: RANGRF
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: KCNE3
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SCN3B
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: CACNB2
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SCNN1A
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SCN2B
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: CACNA2D1
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: CACNA2D1
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: SCN1B
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: GPD1L
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: PLN
disease_id: OMIM:609909
disease_name: CARDIOMYOPATHY, DILATED, 1P
gene_symbol: RAF1
disease_id: OMIM:615916
disease_name: CARDIOMYOPATHY, DILATED, 1NN
gene_symbol: TGFB3
disease_id: OMIM:107970
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1
gene_symbol: DTNA
disease_id: OMIM:604169
disease_name: LEFT VENTRICULAR NONCOMPACTION 1
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: JUP
disease_id: OMIM:611528
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: DSG2
disease_id: OMIM:610193
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: DSC2
disease_id: OMIM:610476
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: KCNJ2
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: SLC4A3
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: ACTB
disease_id: OMIM:620475
disease_name: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY
gene_symbol: LDB3
disease_id: OMIM:601493
disease_name: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: GNB5
disease_id: ORPHA:542306
disease_name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
gene_symbol: SGO1
disease_id: OMIM:616201
disease_name: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA
gene_symbol: FHL1
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: EMD
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: TMEM43
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE1
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE2
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: TOR1AIP1
disease_id: OMIM:617072
disease_name: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
gene_symbol: DEPDC5
disease_id: OMIM:620504
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111
gene_symbol: SLC25A20
disease_id: OMIM:212138
disease_name: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
gene_symbol: CDH2
disease_id: OMIM:618920
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14
gene_symbol: VEZF1
disease_id: OMIM:620247
disease_name: CARDIOMYOPATHY, DILATED, 1OO
gene_symbol: RYR1
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: DOHH
disease_id: OMIM:620066
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT
gene_symbol: CNBP
disease_id: OMIM:602668
disease_name: MYOTONIC DYSTROPHY 2
gene_symbol: MYZAP
disease_id: OMIM:620894
disease_name: OMIM:620894
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES