NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE MRE11-RAD50-NBS1 promotes Fanconi Anemia R-loop suppression at transcription-replication conflicts. 31537797 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE Immunocytochemistry showed homologous recombination was abrogated in NBS(-/-) and ATM(-/-) fibroblasts, compromised in Fanconi anemia and normal in Bloom's syndrome cells in response to poly ADP-ribose polymerase inhibitors. 18838476 2008
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE The proteins involved in FA act coordinately in the cellular response to DNA cross-links in a pathway that has been shown to interact physically or functionally with a variety of other proteins involved in DNA repair or cell cycle control, notably BRCA1, Rad51,ATM,ATR, and Nbs1. 16207587 2005
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease LHGDN CHK1 RNAi in NBS1 or FA cells abolished the S-phase checkpoint, suggesting that CHK1 and FANCs/NBS1 proteins work on parallel pathways. 14988723 2004
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE In wild-type cells, MMC activates the colocalization of the FA subtype D2 protein (FANCD2) and NBS1 protein in subnuclear foci. 12447395 2002
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 GeneticVariation disease BEFREE Mutations in ATM, NBS1, MRE11, BLM, WRN, and FANCD2 are responsible for ataxia telangiectasia (AT), Nijmegen breakage syndrome, AT-like disorder, Bloom and Werner syndrome, and Fanconi anemia group D2, respectively. 11733219 2001