NLRP2, NLR family pyrin domain containing 2, 55655

N. diseases: 155; N. variants: 21
Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 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 		0.040 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 		0.040 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 		0.040 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