BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.040 Biomarker group BEFREE However, BLM-TopBP1 binding is important for maintaining genome integrity, because in its absence cells display increased sister chromatid exchanges, replication origin firing and chromosomal aberrations. 25794620 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.040 Biomarker group BEFREE Cells from Bloom's syndrome patients, that lack the RecQ helicase BLM, show defects in the response to replicative stress and contain a multitude of chromosomal aberrations, which primarily arise through excessive levels of homologous recombination. 17363339 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.040 Biomarker group BEFREE Moreover, disruption of XRCC3 suppresses MMS and UV sensitivity and the MMS- and UV-induced chromosomal aberrations of blm cells, indicating that BLM acts downstream of XRCC3. 17923529 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.040 Biomarker group BEFREE Chromosomal aberrations were also synergistically increased in WRN(-/-)/BLM(-/-) cells when irradiated with UV light in late S to G(2) phases. 11840341 2002