Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
0.030 GeneticVariation BEFREE Our study is focused on the extent of any such chromosomal aberrations with respect to chromium levels in the blood of welders as well as on the tentative modulating role of polymorphisms in DNA repair genes XPD Lys751Gln, XPG Asn114His, XPC Lys939Gln, hOGG1 Ser326Cys and XRCC1 Arg399Gln on chromosomal damage. 21858514 2012
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
0.030 GeneticVariation BEFREE Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL patients with unfavorable cytogenetic aberrations and controls. 19484764 2009
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
0.030 GeneticVariation BEFREE We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population. 14729591 2004