Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.050 Biomarker group BEFREE CNDAC-treated cells lacking XPF-ERCC1 nuclease function showed a 16-fold increase in chromosome aberrations. 31501277 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.050 AlteredExpression group BEFREE Increased ERCC1 expression is linked to chromosomal aberrations and adverse tumor biology in prostate cancer. 28747165 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.050 AlteredExpression group BEFREE The expression of DNA repair factors ERCC1 and LIG4 were determined in Ph¯ MPN with and without cytogenetic aberrations. 23571153 2013
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.050 Biomarker group BEFREE However, Ercc1(-/-) Ku86(-/-) fibroblasts were hypersensitive to gamma irradiation compared to single mutants and accumulated significantly greater chromosomal aberrations. 18541667 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.050 GeneticVariation group BEFREE The aim of the study was to elucidate whether the frequency of BLM-induced CAs is correlated with polymorphisms of selected genes involved in different mechanisms of DNA repair such as: XRCC1 [base excision repair]; XPA, XPC, XPG, XPD, XPF, ERCC1 [nucleotide excision repair], NBS1, RAD51, XRCC2, XRCC3, RAD51, and BRCA1 [homologous recombination], as well as in genes encoding xenobiotic metabolizing enzymes, such as CYP1A, CYP2E1, NAT2, GSTT1, and EPHX (mEH). 17685459 2007