DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. 28676641 2017
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. 25501959 2015
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. 25492887 2015
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. 24016602 2014
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2. 22613877 2012
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 20529869 2010
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. 20817456 2010
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005