DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1834558
Disease:
Myopathy, Centronuclear, Autosomal Dominant
0.010 GeneticVariation BEFREE To understand the pathomechanisms resulting from a DNM2 mutation, we generated a knock-in mouse model expressing the most frequent AD-CNM mutation (KI-Dnm2(R465W)). 20858595 2010