DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514735
rs397514735
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C3809272
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		0.800 GeneticVariation UNIPROT Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955 2013
dbSNP: rs397514735
rs397514735
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C3809272
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		G 0.800 CausalMutation CLINVAR