arrhythmia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. (Human Phenotype Ontology, HP_0011675)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011675
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Genes

257 genes associated with the arrhythmia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACADVL acyl-CoA dehydrogenase, very long chain
ACTC1 actin, alpha, cardiac muscle 1
AGXT alanine-glyoxylate aminotransferase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANK2 ankyrin 2, neuronal
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAT1 BRCA1-associated ATM activator 1
C10ORF2 chromosome 10 open reading frame 2
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CASQ2 calsequestrin 2 (cardiac muscle)
CASR calcium-sensing receptor
CAV3 caveolin 3
CDKL5 cyclin-dependent kinase-like 5
CLCF1 cardiotrophin-like cytokine factor 1
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL4A1 collagen, type IV, alpha 1
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CPOX coproporphyrinogen oxidase
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNA3 catenin (cadherin-associated protein), alpha 3
CTSH cathepsin H
DCAF17 DDB1 and CUL4 associated factor 17
DES desmin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DPP6 dipeptidyl-peptidase 6
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
DST dystonin
DTNA dystrobrevin, alpha
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
EMD emerin
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EYA4 EYA transcriptional coactivator and phosphatase 4
FBLN5 fibulin 5
FBP1 fructose-1,6-bisphosphatase 1
FBXL4 F-box and leucine-rich repeat protein 4
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
FMO3 flavin containing monooxygenase 3
FOXC2 forkhead box C2
FOXG1 forkhead box G1
GAA glucosidase, alpha; acid
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATAD1 GATA zinc finger domain containing 1
GBA glucosidase, beta, acid
GCM2 glial cells missing homolog 2 (Drosophila)
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GLA galactosidase, alpha
GLUL glutamate-ammonia ligase
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPD1L glycerol-3-phosphate dehydrogenase 1-like
GPX4 glutathione peroxidase 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GYG1 glycogenin 1
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HCRT hypocretin (orexin) neuropeptide precursor
HDAC4 histone deacetylase 4
HFE hemochromatosis
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMBS hydroxymethylbilane synthase
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ISCU iron-sulfur cluster assembly enzyme
JPH2 junctophilin 2
JUP junction plakoglobin
KAT6B K(lysine) acetyltransferase 6B
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF1B kinesin family member 1B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMP2 lysosomal-associated membrane protein 2
LDB3 LIM domain binding 3
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAMLD1 mastermind-like domain containing 1
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MGME1 mitochondrial genome maintenance exonuclease 1
MOG myelin oligodendrocyte glycoprotein
MT-ATP8 ATP synthase F0 subunit 8
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTM1 myotubularin 1
MTO1 mitochondrial tRNA translation optimization 1
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYLK2 myosin light chain kinase 2
MYOZ2 myozenin 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
ND1
NEXN nexilin (F actin binding protein)
NKX2-5 NK2 homeobox 5
NPPA natriuretic peptide A
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NTNG1 netrin G1
NUP155 nucleoporin 155kDa
P2RY11 purinergic receptor P2Y, G-protein coupled, 11
PAX8 paired box 8
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PGM1 phosphoglucomutase 1
PHYH phytanoyl-CoA 2-hydroxylase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKP2 plakophilin 2
PLN phospholamban
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMT2 protein-O-mannosyltransferase 2
PPOX protoporphyrinogen oxidase
PRDM16 PR domain containing 16
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SALL4 spalt-like transcription factor 4
SCARB2 scavenger receptor class B, member 2
SCN1B sodium channel, voltage gated, type I beta subunit
SCN3B sodium channel, voltage gated, type III beta subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD3 SMAD family member 3
SNTA1 syntrophin, alpha 1
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SYNE2 spectrin repeat containing, nuclear envelope 2
TAZ tafazzin
TBL2 transducin (beta)-like 2
TBX3 T-box 3
TBX5 T-box 5
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TLL1 tolloid-like 1
TMEM43 transmembrane protein 43
TMEM70 transmembrane protein 70
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNXB tenascin XB
TPM1 tropomyosin 1 (alpha)
TRDN triadin
TRNE
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSHR thyroid stimulating hormone receptor
TSPYL1 TSPY-like 1
TTN titin
TTPA tocopherol (alpha) transfer protein
UROD uroporphyrinogen decarboxylase
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
ZNF365 zinc finger protein 365