DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.020 GeneticVariation disease BEFREE Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). 17825552 2007
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		0.020 Biomarker disease BEFREE These features overlap with findings seen in the phenotype of DNM2-related autosomal dominant Charcot-Marie-Tooth disease type 2B. 16585051 2006