Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
A 0.700 CausalMutation CLINVAR Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. 26842864 2016
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
A 0.700 CausalMutation CLINVAR DNM2 mutations in Chinese Han patients with centronuclear myopathy. 26908122 2016
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
A 0.700 CausalMutation CLINVAR Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. 25501959 2015
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
A 0.700 CausalMutation CLINVAR Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 25957634 2015
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
A 0.700 CausalMutation CLINVAR Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. 24465259 2014
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
A 0.700 CausalMutation CLINVAR Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310 2012
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
A 0.700 CausalMutation CLINVAR Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. 22096584 2011
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
A 0.700 CausalMutation CLINVAR Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010