rs121913050, ERCC4

N. diseases: 3
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
0.010 GeneticVariation BEFREE In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a progeria-causing mutation (XPF(R153P)) were compared to an XP-causing mutation (XPF(R799W)) in vitro and in vivo. 20221251 2010