rs25489, XRCC1

N. diseases: 78
Disease: Xeroderma Pigmentosum, Complementation Group D ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
0.030 GeneticVariation BEFREE Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. 26482462 2016
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
0.030 GeneticVariation BEFREE The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G>C single nucleotide polymorphism [SNP], 3R G>C SNP), epidermal growth factor receptor (Arg497Lys), GSTP1 (Ile105val), excision repair cross-complementing 1 (Asn118Asn, 8092C>A, 19716G>C), X-ray repair cross-complementing group 1 (XRCC1) (Arg194Trp, Arg280His, Arg399Gln), and xeroderma pigmentosum group D (Lys751Gln). 21570215 2011
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
0.030 GeneticVariation BEFREE We genotyped polymorphisms of X-ray repair cross-complimenting group 1 (XRCC1) codon 194 (Arg to Trp), 280 (Arg to His) and 399 (Arg to Gln), and xeroderma pigmentosum group D (XPD) codon 312 (Asp to Asn) and 715 (Lys to Gln) in 108 children with ALL and 317 healthy controls using PCR-RFLP method. 16435384 2007