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: C4551952
Disease:
Myopathy, Centronuclear, 1
T 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310 2012
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 19932620 2010
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
T 0.800 CausalMutation CLINVAR Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 20529869 2010
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
T 0.800 CausalMutation CLINVAR A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. 20858595 2010
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 19932619 2010
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. 19122038 2009
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. 19623537 2009
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 17825552 2007
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 17932957 2007
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
T 0.800 CausalMutation CLINVAR Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005