DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Contracture ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755587394
rs755587394
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0009917
Disease:
Contracture 		0.010 GeneticVariation BEFREE Upon cyclical cell stretching, cardiac myocytes expressing mutant δ-sarcoglycan R97Q or R71T have increased cell-impermeant dye uptake and undergo contractures at greater frequencies than myocytes expressing normal δ-sarcoglycan. 26968544 2016