Atrioventricular Block Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (Human Disease Ontology, DOID_0050820)
External Link https://www.disgenet.org/browser/0/1/0/C0004245
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Genes

62 genes associated with the disease Atrioventricular Block in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACADVL acyl-CoA dehydrogenase, very long chain
AGXT alanine-glyoxylate aminotransferase
APRT adenine phosphoribosyltransferase
ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARSD arylsulfatase D
BVES blood vessel epicardial substance
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CALCR calcitonin receptor
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
CUX1 cut-like homeobox 1
DES desmin
EMD emerin
FHL1 four and a half LIM domains 1
FLT4 fms-related tyrosine kinase 4
GATA4 GATA binding protein 4
GJC1 gap junction protein, gamma 1, 45kDa
GLA galactosidase, alpha
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2
GPX4 glutathione peroxidase 4
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
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
KRT5 keratin 5, type II
LMNA lamin A/C
MFAP1 microfibrillar-associated protein 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MTM1 myotubularin 1
MYBPC3 myosin binding protein C, cardiac
NKX2-5 NK2 homeobox 5
PITX2 paired-like homeodomain 2
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKD2L1 polycystic kidney disease 2-like 1
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
RHOA ras homolog family member A
SCN10A sodium channel, voltage gated, type X alpha subunit
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SDS serine dehydratase
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SSB Sjogren syndrome antigen B (autoantigen La)
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TBX3 T-box 3
TBX5 T-box 5
TBX6 T-box 6
TDP2 tyrosyl-DNA phosphodiesterase 2
TMEM43 transmembrane protein 43
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TRIM21 tripartite motif containing 21
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TTN titin
TTR transthyretin