abnormal muscle electrophysiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the musculature as it relates to electrical phenomena (Mammalian Phenotype Ontology, MP_0004145)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004145
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18 gene mutations causing the abnormal muscle electrophysiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AR androgen receptor
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CACNG1 calcium channel, voltage-dependent, gamma subunit 1
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CHN1 chimerin 1
CLCN1 chloride channel, voltage-sensitive 1
DMD dystrophin
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ESR2 estrogen receptor 2 (ER beta)
FBN2 fibrillin 2
HSPG2 heparan sulfate proteoglycan 2
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
MUSK muscle, skeletal, receptor tyrosine kinase
RYR1 ryanodine receptor 1 (skeletal)
SCYL1 SCY1-like 1 (S. cerevisiae)
TRDN triadin