NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Aplastic Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 GeneticVariation disease BEFREE In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability. 24830725 2014
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease GENOMICS_ENGLAND Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 16415040 2006
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease BEFREE We hypothesize that NBS1 may play an important role in the pathogenesis of AA. 15338273 2004
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease GENOMICS_ENGLAND We hypothesize that NBS1 may play an important role in the pathogenesis of AA. 15338273 2004
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease GENOMICS_ENGLAND Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 11325820 2001
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 CausalMutation disease CLINVAR
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease CTD_human
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 GeneticVariation disease CLINVAR