heart block Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. (Human Phenotype Ontology, HP_0012722)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012722
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18 genes associated with the heart block phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGXT alanine-glyoxylate aminotransferase
CTNNA3 catenin (cadherin-associated protein), alpha 3
DMPK dystrophia myotonica-protein kinase
EMD emerin
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GPD1L glycerol-3-phosphate dehydrogenase 1-like
GYG1 glycogenin 1
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
MYOZ2 myozenin 2
POMT2 protein-O-mannosyltransferase 2
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PTPN11 protein tyrosine phosphatase, non-receptor type 11
SCN1B sodium channel, voltage gated, type I beta subunit
SCN4B sodium channel, voltage gated, type IV beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
TRPM4 transient receptor potential cation channel, subfamily M, member 4