DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.710 GeneticVariation disease BEFREE Mutations of Dynamin 2 (DNM2) are responsible for several forms of neuromuscular disorder such as centronuclear myopathy, Charcot-Marie-Tooth disease (CMT) dominant intermediate type B, CMT 2M, and lethal congenital contracture syndrome 5. 28971531 2018
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.710 GeneticVariation disease UNIPROT Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955 2013
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.710 GermlineCausalMutation disease ORPHANET Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955 2013
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.710 Biomarker disease GENOMICS_ENGLAND Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955 2013
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 15731758 2005
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.710 Biomarker disease CTD_human
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.710 CausalMutation disease CLINVAR