rs752088918, XPC

N. diseases: 2
Disease: Xeroderma Pigmentosum ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
0.700 CausalMutation CLINVAR A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC. 17079196 2007
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
0.700 CausalMutation CLINVAR Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512 2006
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
0.700 CausalMutation CLINVAR Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. 11121128 2000