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 Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 7951246 1994
Xeroderma pigmentosum, group G
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
0.700 CausalMutation CLINVAR