BIVM-ERCC5, BIVM-ERCC5 readthrough, 100533467

N. diseases: 15; N. variants: 38
Disease: Xeroderma pigmentosum, group G ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		0.100 GeneticVariation disease CLINVAR Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method. 15082767 2004
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		0.100 CausalMutation disease CLINVAR