Phenotype: Abnormal atrioventricular conduction (HP:0005150)
Associated genes and diseases:
gene_symbol: TRPM4
disease_id: OMIM:604559
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
gene_symbol: CACNA1C
disease_id: OMIM:601005
disease_name: TIMOTHY SYNDROME
gene_symbol: TBX5
disease_id: ORPHA:392
disease_name: Holt-Oram syndrome
Atriodigital dysplasia type 1
HOS
Heart-hand syndrome type 1
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: MYBPC3
disease_id: OMIM:115197
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
gene_symbol: PRKAG2
disease_id: OMIM:600858
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
gene_symbol: GPX4
disease_id: ORPHA:93317
disease_name: Spondylometaphyseal dysplasia, Sedaghatian type
gene_symbol: DES
disease_id: ORPHA:98909
disease_name: Desminopathy
Desmin-related myofibrillar myopathy
gene_symbol: MT-CYB
disease_id: ORPHA:137675
disease_name: Histiocytoid cardiomyopathy
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: SLC25A20
disease_id: OMIM:212138
disease_name: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
gene_symbol: EMD
disease_id: OMIM:310300
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
gene_symbol: EMD
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
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: TRDN
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: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: FHL1
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: SCN4B
disease_id: OMIM:611819
disease_name: LONG QT SYNDROME 10
gene_symbol: ACADVL
disease_id: ORPHA:26793
disease_name: Very long chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
gene_symbol: SCN5A
disease_id: OMIM:601154
disease_name: CARDIOMYOPATHY, DILATED, 1E
gene_symbol: SCN5A
disease_id: OMIM:608567
disease_name: SICK SINUS SYNDROME 1
gene_symbol: FLNC
disease_id: OMIM:617047
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
gene_symbol: GNB2
disease_id: OMIM:619464
disease_name: SICK SINUS SYNDROME 4
gene_symbol: KCNJ5
disease_id: OMIM:613485
disease_name: LONG QT SYNDROME 13
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: ACTN2
disease_id: OMIM:612158
disease_name: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: CACNA2D1
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: KCNJ2
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: KCNQ1
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: KCNH2
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: SLC4A3
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: TTN
disease_id: OMIM:604145
disease_name: CARDIOMYOPATHY, DILATED, 1G
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
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: MYL4
disease_id: OMIM:617280
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 18
gene_symbol: MT-ATP8
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: MT-TL1
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: GRIN1
disease_id: OMIM:619814
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: RRM2B
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: RNASEH1
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: SDHA
disease_id: ORPHA:3208
disease_name: 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
gene_symbol: SDHB
disease_id: ORPHA:3208
disease_name: 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
gene_symbol: SDHD
disease_id: ORPHA:3208
disease_name: 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
gene_symbol: SDHAF1
disease_id: ORPHA:3208
disease_name: 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
gene_symbol: TTR
disease_id: ORPHA:85451
disease_name: ATTRV122I amyloidosis
ATTRV122I-related amyloidosis
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: ORPHA:168796
disease_name: Heart-hand syndrome, Slovenian type
Atriodigital dysplasia, Slovenian type
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
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: NKX2-5
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ACTC1
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: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
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:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
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: HCN4
disease_id: ORPHA:130
disease_name: Brugada syndrome
Idiopathic ventricular fibrillation, Brugada type
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
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: SCN10A
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: AKAP9
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: 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: GPD1L
disease_id: OMIM:611777
disease_name: BRUGADA 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: MYPN
disease_id: OMIM:617336
disease_name: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE
gene_symbol: CTNNA3
disease_id: OMIM:615616
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13
gene_symbol: DOHH
disease_id: OMIM:620066
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT
gene_symbol: GJA5
disease_id: OMIM:108770
disease_name: ATRIAL STANDSTILL 1
gene_symbol: DTNA
disease_id: OMIM:604169
disease_name: LEFT VENTRICULAR NONCOMPACTION 1
gene_symbol: DMPK
disease_id: ORPHA:589821
disease_name: Congenital-onset Steinert myotonic dystrophy
Congenital-onset Steinert disease
Congenital-onset myotonic dystrophy type 1
gene_symbol: DMPK
disease_id: OMIM:160900
disease_name: MYOTONIC DYSTROPHY 1
gene_symbol: KCNK3
disease_id: OMIM:615344
disease_name: PULMONARY HYPERTENSION, PRIMARY, 4
gene_symbol: LARS2
disease_id: OMIM:617021
disease_name: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
gene_symbol: CACNA1D
disease_id: ORPHA:369929
disease_name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
gene_symbol: CACNA1D
disease_id: OMIM:615474
disease_name: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: CALM3
disease_id: OMIM:618782
disease_name: LONG QT SYNDROME 16
gene_symbol: POPDC1
disease_id: OMIM:616812
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25
gene_symbol: VEZF1
disease_id: OMIM:620247
disease_name: CARDIOMYOPATHY, DILATED, 1OO
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: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: CALM1
disease_id: OMIM:616247
disease_name: LONG QT SYNDROME 14