Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2042
Gene Symbol: EPHA3
EPHA3
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.020 GeneticVariation BEFREE Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. 15689621

2005

Entrez Id: 2042
Gene Symbol: EPHA3
EPHA3
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.020 AlteredExpression BEFREE Resting Ca2+ concentrations were higher in HEK-293 cells expressing homotetrameric CCD mutant RyR1 than in cells expressing homotetrameric MH mutant RyR1. 9873004

1999