WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.110 GeneticVariation disease BEFREE We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase. 23849162 2013
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.110 Biomarker disease HPO