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: rs121909094
rs121909094
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
0.700 GeneticVariation UNIPROT Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. 18560793 2008
dbSNP: rs121909094
rs121909094
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
0.700 GeneticVariation UNIPROT Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 17636067 2007