Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57158
Gene Symbol: JPH2
JPH2
0.010 GeneticVariation group BEFREE Family-based genetic analysis of GME individuals with cardiomyopathic disease identified an Iranian patient with dilated cardiomyopathy (DCM) as a carrier of a novel, homozygous single nucleotide insertion in JPH2 resulting in a stop codon (JPH2-p.E641*). 31227780 2019