Phenotype: Syncope (HP:0001279)
Associated genes and diseases:
gene_symbol: MPL
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: THPO
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: JAK2
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
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: KCNE2
disease_id: OMIM:613693
disease_name: LONG QT SYNDROME 6
gene_symbol: KCNE2
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: KCNE2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
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: KCNE1
disease_id: OMIM:613695
disease_name: LONG QT SYNDROME 5
gene_symbol: KCNE1
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: KCNE1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE1
disease_id: ORPHA:90647
disease_name: Jervell and Lange-Nielsen syndrome
Long QT interval-deafness syndrome
Long QT interval-hearing loss syndrome
gene_symbol: KCNE1
disease_id: OMIM:612347
disease_name: JERVELL AND LANGE-NIELSEN SYNDROME 2
gene_symbol: PSEN1
disease_id: OMIM:613694
disease_name: CARDIOMYOPATHY, DILATED, 1U
gene_symbol: PSEN2
disease_id: OMIM:613697
disease_name: CARDIOMYOPATHY, DILATED, 1V
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KCNH2
disease_id: OMIM:609620
disease_name: SHORT QT SYNDROME 1
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: KCNH2
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
gene_symbol: KCNQ1
disease_id: OMIM:609621
disease_name: SHORT QT SYNDROME 2
gene_symbol: KCNQ1
disease_id: OMIM:192500
disease_name: LONG QT SYNDROME 1
gene_symbol: KCNQ1
disease_id: OMIM:607554
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 3
gene_symbol: KCNQ1
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: KCNQ1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNQ1
disease_id: OMIM:220400
disease_name: JERVELL AND LANGE-NIELSEN SYNDROME 1
gene_symbol: KCNQ1
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: KCNQ1
disease_id: ORPHA:90647
disease_name: Jervell and Lange-Nielsen syndrome
Long QT interval-deafness syndrome
Long QT interval-hearing loss syndrome
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: HCN4
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
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: ACTC1
disease_id: OMIM:612098
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11
gene_symbol: ACTC1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ANK2
disease_id: OMIM:600919
disease_name: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
gene_symbol: ANK2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNJ2
disease_id: OMIM:613980
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 9
gene_symbol: KCNJ2
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
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: DSC2
disease_id: OMIM:610476
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
gene_symbol: ABCC8
disease_id: ORPHA:276575
disease_name: Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
gene_symbol: NOTCH2NLC
disease_id: OMIM:603472
disease_name: NEURONAL INTRANUCLEAR INCLUSION DISEASE
gene_symbol: KCNJ11
disease_id: ORPHA:276580
disease_name: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Dominant KATP hyperinsulinism due to Kir6.2 deficiency
gene_symbol: TRPM4
disease_id: OMIM:604559
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
gene_symbol: TRPM4
disease_id: ORPHA:871
disease_name: Familial progressive cardiac conduction defect
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
gene_symbol: TRPM4
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: GJA5
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: KCNJ3
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: KCNJ5
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: KCNJ5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNJ5
disease_id: OMIM:613485
disease_name: LONG QT SYNDROME 13
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: MYL4
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: NKX2-5
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: NKX2-5
disease_id: ORPHA:871
disease_name: Familial progressive cardiac conduction defect
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
gene_symbol: NKX2-5
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ABCC9
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: ABCC9
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: NKX2-6
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: NPPA
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: SCN3B
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: SCN3B
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: GATA4
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: GATA4
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA6
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: GATA6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: PITX2
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: SCN2B
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: SCN2B
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: GATA5
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: SCN1B
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: SCN1B
disease_id: ORPHA:871
disease_name: Familial progressive cardiac conduction defect
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
gene_symbol: SCN1B
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SCN5A
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: SCN5A
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: SCN5A
disease_id: OMIM:601154
disease_name: CARDIOMYOPATHY, DILATED, 1E
gene_symbol: SCN5A
disease_id: OMIM:113900
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
gene_symbol: SCN5A
disease_id: ORPHA:871
disease_name: Familial progressive cardiac conduction defect
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
gene_symbol: SCN5A
disease_id: OMIM:601144
disease_name: BRUGADA SYNDROME 1
gene_symbol: SCN5A
disease_id: OMIM:603830
disease_name: LONG QT SYNDROME 3
gene_symbol: SCN5A
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SCN5A
disease_id: OMIM:603829
disease_name: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1
gene_symbol: SCN4B
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: SCN4B
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNA5
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: TTN
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: NUP155
disease_id: ORPHA:334
disease_name: Familial atrial fibrillation
gene_symbol: CALM1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CALM1
disease_id: OMIM:614916
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
gene_symbol: CALM1
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: CALM2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: CALM2
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: 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: 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: AKAP9
disease_id: OMIM:611820
disease_name: LONG QT SYNDROME 11
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: OMIM:611875
disease_name: BRUGADA SYNDROME 3
gene_symbol: CACNA1C
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: CACNA1C
disease_id: OMIM:618447
disease_name: LONG QT SYNDROME 8
gene_symbol: TRDN
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TRDN
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: TRDN
disease_id: OMIM:615441
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS
gene_symbol: TRDN
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: CALM3
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CALM3
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: SNTA1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SNTA1
disease_id: OMIM:612955
disease_name: LONG QT SYNDROME 12
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: ATP13A3
disease_id: OMIM:265400
disease_name: PULMONARY HYPERTENSION, PRIMARY, 5
gene_symbol: PKP2
disease_id: OMIM:609040
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
gene_symbol: PKP2
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: ELN
disease_id: ORPHA:3193
disease_name: Supravalvular aortic stenosis
SVAS
gene_symbol: GNB2
disease_id: OMIM:619464
disease_name: SICK SINUS SYNDROME 4
gene_symbol: TNNC1
disease_id: OMIM:613243
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
gene_symbol: DSP
disease_id: OMIM:615821
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
gene_symbol: SLC6A5
disease_id: OMIM:614618
disease_name: HYPEREKPLEXIA 3
gene_symbol: CACNA2D1
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: CACNA2D1
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: SLC4A3
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: SLC4A3
disease_id: OMIM:620231
disease_name: SHORT QT SYNDROME 7
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: TLL1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: TBX20
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: MYH6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: CITED2
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: DBH
disease_id: ORPHA:230
disease_name: Dopamine beta-hydroxylase deficiency
DBH deficiency
gene_symbol: MYBPC3
disease_id: OMIM:115197
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
gene_symbol: MYBPC3
disease_id: OMIM:615396
disease_name: LEFT VENTRICULAR NONCOMPACTION 10
gene_symbol: PRKAG2
disease_id: OMIM:600858
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
gene_symbol: PRKAG2
disease_id: OMIM:194200
disease_name: WOLFF-PARKINSON-WHITE SYNDROME
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: CACNB2
disease_id: OMIM:611876
disease_name: BRUGADA SYNDROME 4
gene_symbol: CACNB2
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: MYPN
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: FLNC
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: TNNT2
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: TNNI3
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: KIF20A
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: CASQ2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
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:611938
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
gene_symbol: RYR2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
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: POPDC1
disease_id: OMIM:616812
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25
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: 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: SLMAP
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: SCNN1A
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: GPD1L
disease_id: OMIM:611777
disease_name: BRUGADA SYNDROME 2
gene_symbol: CTSH
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: P2RY11
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: MOG
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: HLA-DQB1
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: HCRT
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: ZNF365
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: TNFSF4
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: HLA-DRB1
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: MYOZ2
disease_id: OMIM:613838
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: HNF1A
disease_id: ORPHA:324575
disease_name: Hyperinsulinism due to HNF1A deficiency
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
gene_symbol: CACNA1D
disease_id: OMIM:614896
disease_name: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
gene_symbol: ALG10B
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
gene_symbol: UCP2
disease_id: ORPHA:276556
disease_name: Hyperinsulinism due to UCP2 deficiency
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: COQ2
disease_id: ORPHA:98933
disease_name: Multiple system atrophy, parkinsonian type
MSA, parkinsonian type
MSA-p
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency