abnormal atrioventricular node conduction Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle (Mammalian Phenotype Ontology, MP_0006141)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006141
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Genes

29 gene mutations causing the abnormal atrioventricular node conduction phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AKAP10 A kinase (PRKA) anchor protein 10
ASPH aspartate beta-hydroxylase
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
DMPK dystrophia myotonica-protein kinase
EGFR epidermal growth factor receptor
EMD emerin
EPHA3 EPH receptor A3
EYA3 EYA transcriptional coactivator and phosphatase 3
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJD3 gap junction protein, delta 3, 31.9kDa
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
IGHMBP2 immunoglobulin mu binding protein 2
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KEL Kell blood group, metallo-endopeptidase
LMNA lamin A/C
MIR208A microRNA 208a
MMP7 matrix metallopeptidase 7
NKX2-5 NK2 homeobox 5
RXRA retinoid X receptor, alpha
SCN5A sodium channel, voltage gated, type V alpha subunit
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SP4 Sp4 transcription factor
SYNE1 spectrin repeat containing, nuclear envelope 1
TBX3 T-box 3
TBX5 T-box 5
VEGFB vascular endothelial growth factor B