atrioventricular block Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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 http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010519
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Genes

24 gene mutations causing the atrioventricular block phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AKAP10 A kinase (PRKA) anchor protein 10
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D 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
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
LMNA lamin A/C
MIR208A microRNA 208a
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