DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Myopathy, Centronuclear, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310 2012
dbSNP: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 19932619 2010
dbSNP: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010
dbSNP: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 19932620 2010
dbSNP: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. 19122038 2009
dbSNP: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. 19623537 2009
dbSNP: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 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: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 17932957 2007
dbSNP: rs1555715869
rs1555715869
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1 		0.700 GeneticVariation UNIPROT Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005