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 We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis. 17476281 2007