Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Familial hypertrophic cardiomyopathy, 1 - (AD) | 10.1 | | | | * Cardiomyopathy, dilated, 1EE - CMD1EE | | * Familial hypertrophic cardiomyopathy, 14 - CMH14 | | * Sick sinus syndrome 3 - SSS3 | | * Cardiomyopathy, familial hypertrophic 1 - CMH1 |
|
Familial hypertrophic cardiomyopathy, 2 - (AD) | 10.2 | | | | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 | | * Left ventricular noncompaction 6 - LVNC6 | | * Cardiomyopathy, dilated, 1D - CMD1D |
|
Familial hypertrophic cardiomyopathy, 3 - (AD) | 10.3 | | | | * Cardiomyopathy, dilated, 1Y - CMD1Y | | * Left ventricular noncompaction 9 - LVNC9 | | * Cardiomyopathy, familial hypertrophic, 3 - CMH3 |
|
Familial hypertrophic cardiomyopathy, 4 - (AD) | 10.4 | | | Cardiac myosin binding protein-C
|
|
| | * Cardimyopathy, dilated, 1A - CMD1A | | * Dilated cardiomyopathy related to MYBPC3 | | * congenital skeletal myopathy and fatal cardiomyopathy | | * Left ventricular noncompaction 10 - LVNC10 | | * Cardiomyopathy, familial hypertrophic, 4 - CMH4 |
|
Familial hypertrophic cardiomyopathy, 6 - (AD) | 10.5 | | | Protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
| | * Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 | | * glycogen storage disease of heart, lethal congenital |
|
Familial hypertrophic cardiomyopathy, 7 - (AD) | 10.6 | | | | * Cardiomyopathy, dilated, 1FF - CMD1FF | | * Cardiomyopathy, familial hypertrophic - CMH7 | | * Cardiomyopathy, familial restrictive - RCM |
|
Familial hypertrophic cardiomyopathy, 8 - (AD) | 10.7 | | | | * Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 |
|
Familial hypertrophic cardiomyopathy, 9 - (AD) | 10.8 | | | | * Hereditary myopathy with early respiratory failure - HMERF | | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy | | * Cardiomyopathy, dilated, 1G - CMD1G | | * Centronuclear myopathy related to TTN | | * LGMDR10 (Formerly LGMD2J) | | * Lethal Congenital Contracture Syndrome related to TTN | | * Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) | | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory | | * Tibial muscular dystrophy, tardive - TMD | | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J |
|
Familial hypertrophic cardiomyopathy, 10 - (AD) | 10.9 | | | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Cardiomyopathy, familial hypertrophic, 10 - CMH10 | | * Cardiomyopathy, hypertrophic, 10 - CMH10 |
|
Familial hypertrophic cardiomyopathy, 11 - (AD) | 10.10 | | | Actin, alpha, cardiac muscle precursor
|
|
| | * Cardiomyopathy, dilated, 1R - CMD1R | | * Cardiomyopathy, familial hypertrophic, 11 - CMH11 | | * Asymmetric septal hypertrophy - ASH |
|
Familial hypertrophic cardiomyopathy, 12 - (AD) | 10.11 | | | Cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
| | * Cardiomyopathy, dilated, 1M - CMD1M | | * Cardiomyopathy, familial hypertrophic, 12 - CMH12 |
|
Familial hypertrophic cardiomyopathy, 13 - (AD) | 10.12 | | | | * Cardiomyopathy, dilated, 1Z - CMD1Z | | * Familial hypertrophic cardiomyopathy, 13 - CMH13 |
|
Familial hypertrophic cardiomyopathy, 14 - (AD) | 10.13 | | | | * Cardiomyopathy, dilated, 1EE - CMD1EE | | * Familial hypertrophic cardiomyopathy, 14 - CMH14 | | * Sick sinus syndrome 3 - SSS3 | | * Cardiomyopathy, familial hypertrophic 1 - CMH1 |
|
Hypertrophic cardiomyopathy, 15 - (AD) | 10.14 | | | | * Cardiomyopathy, dilated, 1W - CMD1W | | * Cardiomyopathy, familial hypertrophic, 15 - CMH15 |
|
Familial hypertrophic cardiomyopathy, 1 - (AD, digenic) | 10.15 | | | Myosin light chain kinase 2
|
|
| | * cardiomyopathy, familial hypertrophic - CMH |
|
Familial hypertrophic cardiomyopathy, 1 - (AD) | 10.16 | | | | * Myopathy distal, Tateyama type - MPDT | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) | | * Rippling muscle disease - RMD2 | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Hyperckemia, idiopathic |
|
Hypertrophic cardiomyopathy, 16 - (AD) | 10.17 | | | Myozenin 2, or calsarcin 1, a Z disk protein
|
|
| | * Hypertrophic cardiomyopathy related to myozenin 2 | | * Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 |
|
Hypertrophic cardiomyopathy, 17 - (AD) | 10.18 | | | | * Hypertrophic cardiomyopathy related to junctophilin | | * Cardiomyopathy, familial hypertrophic, 17 - CMH17 | | * Dilated cardiomyopathy, 2E - CMD2E |
|
Hypertrophic cardiomyopathy, 18 - (AD) | 10.19 | | | | * Hypertrophic cardiomyopathy related to phospholamban | | * Cardiomyopathy, familial hypertrophic, 18 - CMH18 | | * Cardiomyopathy, dilated, 1P - CMD1P |
|
Hypertrophic cardiomyopathy, 19 - (AD) | 10.20 | | | | * Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 |
|
Hypertrophic cardiomyopathy, 20 - (AD) | 10.21 | | | Nexilin(F-actin binding protein)
|
|
| | * Hypertrophic cardiomyopathy related to nexilin | | * Cardiomyopathy, familial hypertrophic 20 - CMH20 | | * Cardiomyopathy, dilated, 1CC - CMD1CC |
|
Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (AD) | 10.22 | | | Ankyrin repeat domain 1 (cardiac muscle)
|
|
| | * Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein | | * Dilated cardiomyopathy related to cardiac ankyrin repeat protein |
|
Hypertrophic cardiomyopathy, 21 - (AD) | 10.23 | | | | * Hypertrophic cardiomyopathy, 21 - CMH28 - [619402]
|
|
Hypertrophic cardiomyopathy, 22 - (AD) | 10.24 | | | | * Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 | | * Nemaline myopathy - NEM11 |
|
Hypertrophic cardiomyopathy, 23 - (AD) | 10.25 | | | | * Hypertrophic cardiomyopathy related to actinin-2 | | * dilated cardiomyopathy, 1aa - CMD1AA | | * Myopathy, distal 6, Adult-onset - MPD6 | | * Congenital myopathy 8 - CMYP8 |
|
Hypertrophic cardiomyopathy, 24 - (AD) | 10.26 | | | | * myofibrillar myopathy ZASP-related - MFM4 | | * cardiomyopathy, dilated 1C - CMD1C | | * Hypertrophic cardiomyopathy related to ZASP - CMH24 | | * Left ventricular noncompaction 3 - LVNC3 |
|
Hypertrophic cardiomyopathy, 25 - (AD) | 10.27 | | | | * Dilated cardiomyopathy, 1N | | * Congenital musuclar dystrophy with telethonin defect | | * Hypertrophic cardiomyopathy related to TCAP - CMH25 | | * Muscular dystrophy, limb-girdle, type 2G - LGMD2G |
|
Hypertrophic cardiomyopathy, 26 - (AD) | 10.28 | | | Filamin C, gamma (actin-binding protein - 280)
|
|
| | * Myopathy, myofibrillar, filamin C-related - MFM5 | | * Myopathy, distal, 4 - MPD4 | | * Cardiomyopathy, familial hypertrophic, 26 - CMH26 |
|
Hypertrophic cardiomyopathy, 27 - (AR) | 10.29 | | | | * Cardiomyopathy, familial hypertrophic 27 - CMH27 |
|
Hypertrophic cardiomyopathy, 28 - (AD) | 10.30 | | | Formin homology-2 domain-containing protein 3
|
|
| | * Hypertrophic cardiomyopathy, 28 - CMH28 |
|
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies - (AR) | 10.31 | | | | * Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies - CMH29 |
|
Mitochondrial complex 1 deficiency, nuclear type 11 - (AD) | 10.32 | | | NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)
|
|
| | * patient with HCM and isolated respiratory complex I deficiency | | * Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 | | * Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 |
|
Combined oxydative phosphorylation deficiency 3 - (AR) | 10.33 | | | Ts translation elongation factor, mitochondrial(M)
|
|
| | * Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 |
|
Combined oxydative phosphorylation deficiency 8 - (AR) | 10.34 | | | Alanyl-tRNA synthetase 2, mitochondrial(M)
|
|
| | * Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 |
|
Combined oxydative phosphorylation deficiency 9 - (AR) | 10.35 | | | Mitochondrial ribosomal protein L3(M)
|
|
| | * Hypertrophic mitochondrial cardiomyopathy related to MRPL3 |
|
Combined oxydative phosphorylation deficiency 10 - (AR) | 10.36 | | | Mitochondrial tRNA translation optimization 1(M)
|
|
| | * Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 |
|
Combined oxydative phosphorylation deficiency 16 - (AR) | 10.37 | | | Mitochondrial ribosomal protein L44(M)
|
|
| | * Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 |
|
Mitochondrial complex IV deficiency, nuclear type 2 | 10.38 | | | Cytochrome c oxidase assembly protein(M)
|
|
| | * Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1) | | * Charcot-Marie-Tooth disease, axonal, related to SCO2 |
|
Mitochondrial complex IV deficiency, nuclear type 6 - (AR) | 10.39 | | | COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)
|
|
| | * Mitochondrial complex IV deficiency, nuclear type 6 - MC4DN6 (CEMCOX2) |
|
Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Dilated cardiomyopathy, 1A - (AD) | 10.40 | | | | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 | | * Hutchinson-Gilford progeria syndrome - HGPS | | * Mandibuloacral dysplasia with type a lipodystrophy - MADA | | * restrictive dermopathy | | * Lipodystrophy, familial partial, type 2 - FPLD2 | | * Cardiomyopathy, dilated, 1A - CMD1A | | * Congenital muscular dystrophy due to LMNA defect (L-CMD) | | * Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 | | * Emery-Dreifuss Autosomal recessive - EDMD3 | | * Muscular dystrophy, limb-girdle, type 1B - LGMD1B |
|
Dilated cardiomyopathy, 1B - (AD) | 10.41 | | | | * Cardiomyopathy, familial dilated, 1 - CMD1B |
|
Dilated cardiomyopathy, 1C, with or without LVNC - (AD) | 10.42 | | | | * myofibrillar myopathy ZASP-related - MFM4 | | * cardiomyopathy, dilated 1C - CMD1C | | * Hypertrophic cardiomyopathy related to ZASP - CMH24 | | * Left ventricular noncompaction 3 - LVNC3 |
|
Dilated cardiomyopathy, 1D - (AD) | 10.43 | | | | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 | | * Left ventricular noncompaction 6 - LVNC6 | | * Cardiomyopathy, dilated, 1D - CMD1D |
|
Dilated cardiomyopathy, 1E - (AD) | 10.44 | | | Voltage-gated sodium channel type V alpha
|
|
| | * Progressive familial heart block, type I - PFHBI | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF | | * Hereditary bundle branch system defect - HBBD | | * Cardiac conduction defect, progressive - PCCD | | * Brugada syndrome 1 - BRGDA1 | | * Atrial fibrillation, 10 - ATFB10 | | * Long QT syndrome-3 - LQT3 |
|
Dilated cardiomyopathy, 1G - (AD) | 10.45 | | | | * Hereditary myopathy with early respiratory failure - HMERF | | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy | | * Cardiomyopathy, dilated, 1G - CMD1G | | * Centronuclear myopathy related to TTN | | * LGMDR10 (Formerly LGMD2J) | | * Lethal Congenital Contracture Syndrome related to TTN | | * Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) | | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory | | * Tibial muscular dystrophy, tardive - TMD | | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J |
|
Dilated cardiomyopathy, 1H - (AD) | 10.46 | | | | * Cardiomyopathy, dilated, 1H - CMD1H |
|
Dilated cardiomyopathy, 1I - (AD) | 10.47 | | | | * Desmin-related myopathy - DRM | | * Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R | | * Dilated cardiomyopathy, 1I - CMD1I | | * Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 | | * Myofibrillar myopathy 1 - MFM1 | | * Myopathy, cardiomyopathy and congenital myasthenic syndrome | | * Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E |
|
Dilated cardiomyopathy, 1J - (AD) | 10.48 | | | | * Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 | | * Cardiomyopathy, dilated, 1J - CMD1J |
|
Dilated cardiomyopathy, 1K - (AD) | 10.49 | | | | * Cardiomyopathy, dilated, 1K - CMD1K |
|
Dilated cardiomyopathy, 1L - (AD) | 10.50 | | | | * Dilated Cardiomyopathy, 1L - CMD1L | | * Muscular dystrophy, limb-girdle, type 2F - LGMD2F |
|
Dilated cardiomyopathy, 1M - (AD) | 10.51 | | | Cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
| | * Cardiomyopathy, dilated, 1M - CMD1M | | * Cardiomyopathy, familial hypertrophic, 12 - CMH12 |
|
Dilated cardiomyopathy, 1N - (AD) | 10.52 | | | | * Dilated cardiomyopathy, 1N | | * Congenital musuclar dystrophy with telethonin defect | | * Hypertrophic cardiomyopathy related to TCAP - CMH25 | | * Muscular dystrophy, limb-girdle, type 2G - LGMD2G |
|
Dilated cardiomyopathy, 1O - (AD) | 10.53 | | | ATP-binding cassette, sub-family C (member 9)
|
|
| | * Cardiomyopathy, dilated, 1O - CMD1O | | * Atrial fibrillation , 12 - ATFB12 |
|
Dilated cardiomyopathy, 1P - (AD) | 10.54 | | | | * Hypertrophic cardiomyopathy related to phospholamban | | * Cardiomyopathy, familial hypertrophic, 18 - CMH18 | | * Cardiomyopathy, dilated, 1P - CMD1P |
|
Dilated cardiomyopathy, 1Q - (AD) | 10.55 | | | | * Cardiomyopathy, dilated, 1Q - CMD1Q |
|
Dilated cardiomyopathy, 1R - (AD) | 10.56 | | | Actin, alpha, cardiac muscle precursor
|
|
| | * Cardiomyopathy, dilated, 1R - CMD1R | | * Cardiomyopathy, familial hypertrophic, 11 - CMH11 | | * Asymmetric septal hypertrophy - ASH |
|
Dilated cardiomyopathy, 1S - (AD) | 10.57 | | | Myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * Myopathy, distal 1 - MPD1 | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B | | * Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A | | * Left ventricular noncompaction 5 - LVNC5 | | * Myopathy, myosin storage, autosomal dominant - MSMB | | * Myosin storage myopathy |
|
Dilated cardiomyopathy, 1T - (AD) | 10.58 | | | Lamina-associated polypeptide 2
|
|
| | * Cardiomyopathy, dilated, 1T - CMT1T |
|
Dilated cardiomyopathy, 1U - (AD) | 10.59 | | | | * Cardiomyopathy, dilated, 1U - CMD1U |
|
Dilated cardiomyopathy, 1V - (AD) | 10.60 | | | | * Cardiomyopathy, dilated, 1W - CMD1V |
|
Dilated cardiomyopathy, 1W - (AD) | 10.61 | | | | * Cardiomyopathy, dilated, 1W - CMD1W | | * Cardiomyopathy, familial hypertrophic, 15 - CMH15 |
|
Dilated cardiomyopathy related, 1X - (AR) | 10.62 | | | | * Walker-Warburg syndrome - WWS | | * Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 | | * fukuyama congenital muscular dystrophy - FCMD | | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 | | * Cardiomyopathy, dilated, 1X - CMD1X | | * Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M |
|
Dilated cardiomyopathy, 1Y - (AD) | 10.63 | | | | * Cardiomyopathy, dilated, 1Y - CMD1Y | | * Left ventricular noncompaction 9 - LVNC9 | | * Cardiomyopathy, familial hypertrophic, 3 - CMH3 |
|
Dilated cardiomyopathy, 1Z - (AD) | 10.64 | | | | * Cardiomyopathy, dilated, 1Z - CMD1Z | | * Familial hypertrophic cardiomyopathy, 13 - CMH13 |
|
Dilated cardiomyopathy, 1AA, with or without LVNC - (AD) | 10.65 | | | | * Hypertrophic cardiomyopathy related to actinin-2 | | * dilated cardiomyopathy, 1aa - CMD1AA | | * Myopathy, distal 6, Adult-onset - MPD6 | | * Congenital myopathy 8 - CMYP8 |
|
Dilated cardiomyopathy, 1BB - (AD/AR) | 10.66 | | | | * Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 | | * Dilated cardiomyopathy, related to DSG2 - CMD1BB |
|
Dilated cardiomyopathy, 1CC - (AD) | 10.67 | | | Nexilin(F-actin binding protein)
|
|
| | * Hypertrophic cardiomyopathy related to nexilin | | * Cardiomyopathy, familial hypertrophic 20 - CMH20 | | * Cardiomyopathy, dilated, 1CC - CMD1CC |
|
Dilated cardiomyopathy, 1DD - (AD) | 10.68 | | | RNA binding motif protein 20
|
|
| | * Cardiomyopathy, dilated, 1DD - CMD1DD |
|
Dilated cardiomyopathy, 1EE - (AD) | 10.69 | | | | * Cardiomyopathy, dilated, 1EE - CMD1EE | | * Familial hypertrophic cardiomyopathy, 14 - CMH14 | | * Sick sinus syndrome 3 - SSS3 | | * Cardiomyopathy, familial hypertrophic 1 - CMH1 |
|
Dilated cardiomyopathy, 1FF - (AD) | 10.70 | | | | * Cardiomyopathy, dilated, 1FF - CMD1FF | | * Cardiomyopathy, familial hypertrophic - CMH7 | | * Cardiomyopathy, familial restrictive - RCM |
|
Dilated cardiomyopathy, 1GG - (AR) | 10.71 | | | Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)
|
|
| | * Recessive neonatal isolated DC | | * Cardiomyopathy, dilated, 1GG - CMD1GG |
|
Dilated cardiomyopathy, 1HH - (AD) | 10.72 | | | BCL2-associated athanogene 3
|
|
| | * myofibrillar myopathy with bag3 defect | | * Dilated cardiomyopathy related to BAG3 - CMD1HH | | * Charcot-Marie-Tooth disease, axonal, related to BAG3 |
|
Dilated cardiomyopathy, 1II - (AD) | 10.73 | | | | * Dilated cardiomyopathy related to alpha-crystallin | | * Myofibrillar myopathy, alpha-B crystallin related | | * Myopathy, myofibrillar, 2 - MFM2 | | * Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2 |
|
Dilated cardiomyopathy, 1JJ - (AD) | 10.74 | | | | * Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 |
|
Dilated cardiomyopathy, 1KK - (AD) | 10.75 | | | | * Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 | | * Nemaline myopathy - NEM11 |
|
Dilated cardiomyopathy, 1LL - (AD) | 10.76 | | | PR Domain-Containing Protein 16
|
|
| | * Dilated cardiomyopathy related to PRDM16 - CMD1LL | | * LEFT VENTRICULAR NONCOMPACTION 8 - LVNC8 | | * Left ventricular noncompaction 8 - LVNC8 |
|
Dilated cardiomyopathy, 1MM - (AD) | 10.77 | | | Cardiac myosin binding protein-C
|
|
| | * Cardimyopathy, dilated, 1A - CMD1A | | * Dilated cardiomyopathy related to MYBPC3 | | * congenital skeletal myopathy and fatal cardiomyopathy | | * Left ventricular noncompaction 10 - LVNC10 | | * Cardiomyopathy, familial hypertrophic, 4 - CMH4 |
|
Dilated cardiomyopathy, 1NN - (AD) | 10.78 | | | V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1
|
|
| | * Dilated cardiomyopathy related to RAF1 - CMD1NN |
|
Dilated cardiomyopathy, 1OO - (AD) | 10.79 | | | Vascular endothelial zing finger 1
|
|
| | * Dilated cardiomyopathy, 1OO - CMD1OO |
|
Dilated cardiomyopathy related to ILK - (AD) | 10.80 | | | | * Dilated cardiomyopathy related to integrin-linked kinase - ILK |
|
Dilated cardiomyopathy related to ANKRD1 - (AD) | 10.81 | | | Ankyrin repeat domain 1 (cardiac muscle)
|
|
| | * Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein | | * Dilated cardiomyopathy related to cardiac ankyrin repeat protein |
|
Dilated cardiomyopathy, 2A - (AD) | 10.82 | | | | * Cardiomyopathy, dilated, 1FF - CMD1FF | | * Cardiomyopathy, familial hypertrophic - CMH7 | | * Cardiomyopathy, familial restrictive - RCM |
|
Dilated cardiomyopathy, 2B - (AR) | 10.83 | | | GATA zinc finger domain containing 1
|
|
| | * Cardiomyopathy, dilated, 2B - CMD2B | | * Dilated cardiomyopathy realted to GATAD1 |
|
Dilated cardiomyopathy, 2C - (AR) | 10.84 | | | Phosphopantothenosylcystein synthetase
|
|
| | * Dilated cardiomyopathy, 2C - CDMD2C |
|
Dilated cardiomyopathy, 2D - (AR) | 10.85 | | | Ribosomal protein L3-like
|
|
| | * Dilated cardiomyopathy, 2D - CMD2D |
|
Dilated cardiomyopathy, 2E | 10.86 | | | | * Hypertrophic cardiomyopathy related to junctophilin | | * Cardiomyopathy, familial hypertrophic, 17 - CMH17 | | * Dilated cardiomyopathy, 2E - CMD2E |
|
Dilated cardiomyopathy, 2F | 10.87 | | | | * Dilated cardiomyopathy, 2F - CMD2F |
|
Dilated cardiomyopathy, 2G - (AR) | 10.88 | | | | * Dilated cardiomyopathy, 2G - CMD2G |
|
Dilated cardiomyopathy, 2H - (AR) | 10.89 | | | Guided entry of tail-anchored proteins factor 3, ATPase
|
|
| | * Dilated cardiomyopathy, 2H - CMD2H |
|
Dilated cardiomyopathy, 2I - (AR) | 10.90 | | | Cyclase associated actin cytoskeltin regulatory protein 2
|
|
| | * Dilated cardiomyopathy, 2I - CMD2I |
|
Dilated cardiomyopathy, 3A - (XR) | 10.91 | | | | * Barth syndrome - BTHS | | * Endocardial fibroelastosis-2 - G4.5 | | * Noncompaction of left ventricular myocardium, isolated - INVM | | * Cardiomyopathy, X-linked dilated - CMD3A |
|
Dilated cardiomyopathy, 3B - (XR) | 10.92 | | | | * Duchenne muscular dystrophy - DMD | | * Becker muscular distrophy - BMD | | * Cardiomyopathy, Dilated, 3B - CMD3B | | * Cardiomyopathy, dilated, X-linked - XLCM |
|
Dilated cardiomyopathy related to nesprin-1 - (AD) | 10.93 | | | Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | * Dilated cardiomyopathy related to nesprin-1 | | * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 | | * Emery-dreifuss muscular dystrophy 4 - EDMD4 | | * Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM |
|
Dilated cardiomyopathy related to MURC - (AD) | 10.94 | | | Muscle-related coiled-coil protein
|
|
| | * Dilated cardiomyopathy related to MURC |
|
Dilated Cardiomyopathy related to DOLK - (AR) | 10.95 | | | | * Dilated Cardiomyopathy related to DOLK - CDG1M |
|
Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Pompe disease Glycogenosis, generalized, cardiac form (early and late onset) - (AR) | 10.102 | | | Acid alpha-glucosidase preproprotein
|
|
| | * Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V | | * Glycogen storage disease II - GSDII |
|
Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) - (XR) | 10.103 | | | | * Barth syndrome - BTHS | | * Endocardial fibroelastosis-2 - G4.5 | | * Noncompaction of left ventricular myocardium, isolated - INVM | | * Cardiomyopathy, X-linked dilated - CMD3A |
|
Left ventricular noncompaction, 1 - (AD) | 10.104 | | | |
Left ventricular noncompaction, 2 | 10.105 | | | | * Left ventricular noncompaction 2 - LVNC2 |
|
Left ventricular noncompaction, 3 - (AD) | 10.106 | | | | * myofibrillar myopathy ZASP-related - MFM4 | | * cardiomyopathy, dilated 1C - CMD1C | | * Hypertrophic cardiomyopathy related to ZASP - CMH24 | | * Left ventricular noncompaction 3 - LVNC3 |
|
Left ventricular noncompaction, 4 - (AD) | 10.107 | | | Actin, alpha, cardiac muscle precursor
|
|
| | * Cardiomyopathy, dilated, 1R - CMD1R | | * Cardiomyopathy, familial hypertrophic, 11 - CMH11 | | * Asymmetric septal hypertrophy - ASH |
|
Left ventricular noncompaction, 5 - (AD) | 10.108 | | | Myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * Myopathy, distal 1 - MPD1 | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B | | * Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A | | * Left ventricular noncompaction 5 - LVNC5 | | * Myopathy, myosin storage, autosomal dominant - MSMB | | * Myosin storage myopathy |
|
Left ventricular noncompaction, 6 - (AD) | 10.109 | | | | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 | | * Left ventricular noncompaction 6 - LVNC6 | | * Cardiomyopathy, dilated, 1D - CMD1D |
|
Left ventricular noncompaction, 7 - (AD) | 10.110 | | | Mindbomb homolog 1 (drosophila)
|
|
| | * Left ventricular noncompaction 7 - LVNC7 |
|
Left ventricular noncompaction, 8 - (AD) | 10.111 | | | PR Domain-Containing Protein 16
|
|
| | * Dilated cardiomyopathy related to PRDM16 - CMD1LL | | * LEFT VENTRICULAR NONCOMPACTION 8 - LVNC8 | | * Left ventricular noncompaction 8 - LVNC8 |
|
Left ventricular noncompaction, 9 - (AD) | 10.112 | | | | * Cardiomyopathy, dilated, 1Y - CMD1Y | | * Left ventricular noncompaction 9 - LVNC9 | | * Cardiomyopathy, familial hypertrophic, 3 - CMH3 |
|
Left ventricular noncompaction, 10 - (AD) | 10.113 | | | Cardiac myosin binding protein-C
|
|
| | * Cardimyopathy, dilated, 1A - CMD1A | | * Dilated cardiomyopathy related to MYBPC3 | | * congenital skeletal myopathy and fatal cardiomyopathy | | * Left ventricular noncompaction 10 - LVNC10 | | * Cardiomyopathy, familial hypertrophic, 4 - CMH4 |
|
Cardiovalvular dysplasia, X-linked (Myxomatous valvular dystrophy) - (XR) | 10.114 | | | Filamin A, alpha (actin binding protein 280)
|
|
| | * Myxomatous valvular dystrophy, X-ninked - XMVD | | * cardiac valvular dysplasia, x-linked - CVD1 |
|
Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Arrhythmogenic right ventricular dysplasia, 1 - (AD) | 10.115 | | | Transforming growth factor, beta 3
|
|
| | * Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 | | * Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 |
|
Arrhythmogenic right ventricular dysplasia, 2 - (AD) | 10.116 | | | | * Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 | | * Ventricular tachycardia, catecholaminergic polymorphic - CPVT | | * Arrhythmogenic right ventricular dysplasia 2 - ARVD2 | | * Ventricular tachycardia, stress-induced polymorphic - VTSIP |
|
Arrhythmogenic right ventricular dysplasia, 3 - (AD) | 10.117 | | | | * Arrhythmogenic right ventricular cardiomyopathy 3 - ARVC3 | | * Arrhythmogenic right ventricular dysplasia-3 - ARVD3 |
|
Arrhythmogenic right ventricular dysplasia, 4 - (AD) | 10.118 | | | | * Arrhythmogenic right ventricular cardiomyopathy 4 - ARVC4 | | * Arrhythmogenic right ventricular dysplasia, familial, 4 - ARVD4 |
|
Arrhythmogenic right ventricular dysplasia, 5 - (AD) | 10.119 | | | | * luma related muscular dystrophy | | * arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 | | * Emery-dreifuss muscular dystrophy 7 - EDMD7 |
|
Arrhythmogenic right ventricular dysplasia, 6 - (AD) | 10.120 | | | Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
|
|
| | * Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 | | * Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 | | * Congenital Myopathy 11 - CMYP11 |
|
Arrhythmogenic right ventricular dysplasia, 8 - ( ) | 10.121 | | | | * Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 |
|
Arrhythmogenic right ventricular dysplasia, 9 - ( ) | 10.122 | | | | * Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 |
|
Arrhythmogenic right ventricular dysplasia, 10 - (AD) | 10.123 | | | | * Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 | | * Dilated cardiomyopathy, related to DSG2 - CMD1BB |
|
Arrhythmogenic right ventricular dysplasia, 11 - (AD) | 10.124 | | | | * Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 |
|
Arrhythmogenic right ventricular dysplasia, 12 - (AD) | 10.125 | | | | * arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 | | * naxos disease |
|
Arrhythmogenic right ventricular dysplasia, familial, 13 - (AD) | 10.126 | | | | * Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 |
|
Arrhythmogenic right ventricular dysplasia, familial, 14 - (AD) | 10.127 | | | | * Arrhythmogenic right ventricular dysplasia, familial, 14 - ARVD14 |
|
Ventricular tachycardia, catecholaminergic polymorphic, dominant - (AD) | 10.128 | | | | * Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 | | * Ventricular tachycardia, catecholaminergic polymorphic - CPVT | | * Arrhythmogenic right ventricular dysplasia 2 - ARVD2 | | * Ventricular tachycardia, stress-induced polymorphic - VTSIP |
|
Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR) | 10.129 | | | Calsequestrin 2 (cardiac muscle)
|
|
| | * ventricular tachycardia, catecholaminergic polymorphi - CPVT |
|
Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR) | 10.130 | | | Trans-2,3-Enoyl-CoA Reductase-Like Protein
|
|
| | * Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 |
|
Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR) | 10.131 | | | | * Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 | | * Long QT syndrome 14 - LQT14 |
|
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness - (AR) | 10.132 | | | | * Cardiac arrhythmia syndrome, with or without skeletal muscle weakness - CPVT5 |
|
Ventricular tachycardia, catecholaminergic polymorphic 6 - (AD) | 10.133 | | | | * Long QT syndrome 16 - LQT16 | | * Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 |
|
Naxos disease - (AR) | 10.134 | | | | * arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 | | * naxos disease |
|
Arrhythmogenic right ventricular cardiomyopathy 7 (ARVC7) - (AD) | 10.135 | | | | * Desmin-related myopathy - DRM | | * Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R | | * Dilated cardiomyopathy, 1I - CMD1I | | * Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 | | * Myofibrillar myopathy 1 - MFM1 | | * Myopathy, cardiomyopathy and congenital myasthenic syndrome | | * Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E |
|
Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Long QT syndrome 1 - (AD) | 10.136 | | | Potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
| | * Atrial fibrillation, 3 - ATFB3 | | * jervell and lange-nielsen syndrome - JLNS1 | | * Romano-Ward syndrome - RWS | | * Long QT syndrome-1 - LQT1 |
|
Long QT syndrome 2 - (AD) | 10.137 | | | Voltage-gated potassium channel, subfamily H, member 2
|
|
| | * Short qt syndrome 1 - SQT1 | | * Long QT syndrome-2 - LQT2 |
|
Long QT syndrome 3 - (AD) | 10.138 | | | Voltage-gated sodium channel type V alpha
|
|
| | * Progressive familial heart block, type I - PFHBI | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF | | * Hereditary bundle branch system defect - HBBD | | * Cardiac conduction defect, progressive - PCCD | | * Brugada syndrome 1 - BRGDA1 | | * Atrial fibrillation, 10 - ATFB10 | | * Long QT syndrome-3 - LQT3 |
|
Long QT syndrome 4 - (AD) | 10.139 | | | | * Long QT syndrome-4 - LQT4 |
|
Long QT syndrome 5 - (AD) | 10.140 | | | Potassium voltage-gated channel, Isk-related family, member 1
|
|
| | * Jervell and Lange-Nielsen cardio-auditory syndrome - JLNS2 | | * Long QT syndrome-5 - LQT5 |
|
Long QT syndrome 6 - (AD) | 10.141 | | | Potassium voltage-gated channel, Isk-related family, member 2
|
|
| | * Atrial fibrillation, 4 - ATFB4 | | * Long QT syndrome-6 - LQT6 |
|
Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (AD) | 10.142 | | | Potassium channel, inwardly rectifying, dubfamily J, member 2
|
|
| | * Long QT syndrome-7 - LQT7 | | * Atrial fibrillation, 9 - ATFB9 | | * Andersen-Tawill syndrome cardiodysrythmic periodic paralysis | | * Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS |
|
Long QT syndrome 8 (Timothy syndrome) - (AD) | 10.143 | | | Calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
| | * brugada syndrome 3 - BRGDA3 | | * Timothy syndrome - LQT8 |
|
Long QT syndrome 9 - (AD) | 10.144 | | | | * Myopathy distal, Tateyama type - MPDT | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) | | * Rippling muscle disease - RMD2 | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Hyperckemia, idiopathic |
|
Long QT syndrome 10 - (AD) | 10.145 | | | Sodium channel, voltage-gated, type IV, beta subunit
|
|
| | * Atrial fibrillation, 17 - ATFB17 | | * Long QT syndrome 10 - LQT10 |
|
Long QT syndrome 11 - (AD) | 10.146 | | | A kinase (PRKA) anchor protein (yotiao) 9
|
|
| | * Long QT syndrome 11 - LQT11 |
|
Long QT syndrome 12 - (AD) | 10.147 | | | | * Long QT syndrome 12 - LQT12 |
|
Long QT syndrome 13 - (AD) | 10.148 | | | Potassium inwardly-rectifying channel, subfamily J, member 5
|
|
| | * Long QT syndrome 13 - LQT13 | | * Andersen-Tawill syndrome cardiodysrythmic periodic paralysis |
|
Long QT syndrome 14 - (AD) | 10.149 | | | | * Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 | | * Long QT syndrome 14 - LQT14 |
|
Long QT syndrome 15 - (AD) | 10.150 | | | | * Long QT syndrome 15 - LQT15 |
|
Long QT syndrome 16 - (AD) | 10.151 | | | | * Long QT syndrome 16 - LQT16 | | * Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 |
|
Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (AD) | 10.152 | | | Potassium inwardly-rectifying channel, subfamily J, member 5
|
|
| | * Long QT syndrome 13 - LQT13 | | * Andersen-Tawill syndrome cardiodysrythmic periodic paralysis |
|
Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Atrial fibrillation, 1 - (AD) | 10.158 | | | | * Atrial fibrillation, 1 - ATFB1 |
|
Atrial fibrillation, 2 - (AD) | 10.159 | | | | * Atrial fibrillation, 2 - ATFB2 |
|
Atrial fibrillation, 3 - (AD) | 10.160 | | | Potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
| | * Atrial fibrillation, 3 - ATFB3 | | * jervell and lange-nielsen syndrome - JLNS1 | | * Romano-Ward syndrome - RWS | | * Long QT syndrome-1 - LQT1 |
|
Atrial fibrillation, 4 - (AD) | 10.161 | | | Potassium voltage-gated channel, Isk-related family, member 2
|
|
| | * Atrial fibrillation, 4 - ATFB4 | | * Long QT syndrome-6 - LQT6 |
|
Atrial fibrillation, 5 - (AD) | 10.162 | | | | * atrial fibrillation, familial, 5 - ATFB5 |
|
Atrial fibrillation, 6 - (AD) | 10.163 | | | Natriuretic peptide precursor A
|
|
| | * atrial fibrillation, familial, 6 - ATFB6 |
|
Atrial fibrillation, 7 - (AD) | 10.164 | | | Potassium voltage-gated channel, shaker-related subfamily, member 5
|
|
| | * atrial fibrillation, familial - ATFB7 |
|
Atrial fibrillation, 8 - (AD) | 10.165 | | | | * atrial fibillation, familial, 8 - ATFB8 |
|
Atrial fibrillation, 9 - (AD) | 10.166 | | | Potassium channel, inwardly rectifying, dubfamily J, member 2
|
|
| | * Long QT syndrome-7 - LQT7 | | * Atrial fibrillation, 9 - ATFB9 | | * Andersen-Tawill syndrome cardiodysrythmic periodic paralysis | | * Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS |
|
Atrial fibrillation, 10 - (AD) | 10.167 | | | Voltage-gated sodium channel type V alpha
|
|
| | * Progressive familial heart block, type I - PFHBI | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF | | * Hereditary bundle branch system defect - HBBD | | * Cardiac conduction defect, progressive - PCCD | | * Brugada syndrome 1 - BRGDA1 | | * Atrial fibrillation, 10 - ATFB10 | | * Long QT syndrome-3 - LQT3 |
|
Atrial fibrillation, 11 - (AD) | 10.168 | | | | * atrial fibrillation, familial, 1 - ATFB1 |
|
Atrial fibrillation , 12 - (AD) | 10.169 | | | ATP-binding cassette, sub-family C (member 9)
|
|
| | * Cardiomyopathy, dilated, 1O - CMD1O | | * Atrial fibrillation , 12 - ATFB12 |
|
Atrial fibrillation, 13 - (AD) | 10.170 | | | Sodium channel, voltage-gated, type I, beta subunit
|
|
| | * Atrial fibrillation, 13 - ATFB13 | | * Brugada syndrome 5 - BRGDA5 |
|
Atrial fibrillation, 14 - (AD) | 10.171 | | | Sodium channel, voltage-gated, type II, beta subunit
|
|
| | * Atrial fibrillation, 14 - ATFB14 |
|
Atrial fibrillation, 15 - (AR) | 10.172 | | | | * Atrial fibrillation, 15 - ATFB15 |
|
Atrial fibrillation , 16 - (AD) | 10.173 | | | Sodium channel, voltage-gated, type III, beta subunit
|
|
| | * Atrial fibrillation, 16 - ATFB16 | | * Brugada syndrome 7 - BRGDA7 |
|
Atrial fibrillation , 17 - (AD) | 10.174 | | | Sodium channel, voltage-gated, type IV, beta subunit
|
|
| | * Atrial fibrillation, 17 - ATFB17 | | * Long QT syndrome 10 - LQT10 |
|
Atrial fibrillation , 18 - (AD) | 10.175 | | | Myosin, Light Chain 4, Alkali, Atrial, Embryonic
|
|
| | * ATFB18 - Atrial fibrillation |
|
Atrial standstill - (AD) | 10.176 | | | | * atrial fibrillation, familial, 1 - ATFB1 |
|
Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Brugada syndrome 1 - (AD) | 10.177 | | | Voltage-gated sodium channel type V alpha
|
|
| | * Progressive familial heart block, type I - PFHBI | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF | | * Hereditary bundle branch system defect - HBBD | | * Cardiac conduction defect, progressive - PCCD | | * Brugada syndrome 1 - BRGDA1 | | * Atrial fibrillation, 10 - ATFB10 | | * Long QT syndrome-3 - LQT3 |
|
Brugada syndrome 2 - (AD) | 10.178 | | | Glycerol-3-phosphate dehydrogenase 1-like
|
|
| | * brugada syndrome 2 - BRGDA2 |
|
Brugada syndrome 3 - (AD) | 10.179 | | | Calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
| | * brugada syndrome 3 - BRGDA3 | | * Timothy syndrome - LQT8 |
|
Brugada syndrome 4 - (AD) | 10.180 | | | Calcium channel, voltage-dependent, beta 2 subunit
|
|
| | * brugada syndrome 4 - BRGDA4 |
|
Brugada syndrome 5 - (AD) | 10.181 | | | Sodium channel, voltage-gated, type I, beta subunit
|
|
| | * Atrial fibrillation, 13 - ATFB13 | | * Brugada syndrome 5 - BRGDA5 |
|
Brugada syndrome 6 - (AD) | 10.182 | | | Potassium voltage-gated channel, Isk-related family, member 3
|
|
| | * Brugada syndrome 6 - BRGDA6 | | * Hypokalaemic periodic paralysis - HOKPP |
|
Brugada syndrome 7 - (AD) | 10.183 | | | Sodium channel, voltage-gated, type III, beta subunit
|
|
| | * Atrial fibrillation, 16 - ATFB16 | | * Brugada syndrome 7 - BRGDA7 |
|
Brugada syndrome 8 | 10.184 | | | Hyperpolarization activated cyclic nucleotide-gated potassium channel 4
|
|
| | * Sick Sinus Syndrome 2, autosomal dominant - SSS2 | | * familial sinusal bradycardia - FSBD | | * Brugada syndrome 8 - BRGDA8 |
|
Brugada syndrome 9 - (AD) | 10.185 | | | Potassium voltage-gated channel, Shal-related subfamily, member 3
|
|
| | * Spinocerebellar ataxia 19 - SCA19 | | * Brugada syndrome 9 - BRGDA9 |
|
Brugada syndrome - (AD) | 10.186 | | | Transmembrane protein 168
|
|
| | * Brugada syndrome - BRGDA |
|
Sick sinus syndrome 1 - (AD) | 10.187 | | | Voltage-gated sodium channel type V alpha
|
|
| | * Progressive familial heart block, type I - PFHBI | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF | | * Hereditary bundle branch system defect - HBBD | | * Cardiac conduction defect, progressive - PCCD | | * Brugada syndrome 1 - BRGDA1 | | * Atrial fibrillation, 10 - ATFB10 | | * Long QT syndrome-3 - LQT3 |
|
Sick sinus syndrome 2 - (AR) | 10.188 | | | Hyperpolarization activated cyclic nucleotide-gated potassium channel 4
|
|
| | * Sick Sinus Syndrome 2, autosomal dominant - SSS2 | | * familial sinusal bradycardia - FSBD | | * Brugada syndrome 8 - BRGDA8 |
|
Sick sinus syndrome 3, susceptibility to | 10.189 | | | | * Cardiomyopathy, dilated, 1EE - CMD1EE | | * Familial hypertrophic cardiomyopathy, 14 - CMH14 | | * Sick sinus syndrome 3 - SSS3 | | * Cardiomyopathy, familial hypertrophic 1 - CMH1 |
|