Gene: NBN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4683
Gene Symbol: NBN
NBN 		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
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.620 Biomarker disease GENOMICS_ENGLAND Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 16415040 2006
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.620 Biomarker disease BEFREE We hypothesize that NBS1 may play an important role in the pathogenesis of AA. 15338273 2004
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.620 Biomarker disease GENOMICS_ENGLAND We hypothesize that NBS1 may play an important role in the pathogenesis of AA. 15338273 2004
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.620 Biomarker disease GENOMICS_ENGLAND Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 11325820 2001
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.620 CausalMutation disease CLINVAR
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.620 Biomarker disease HPO
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.620 Biomarker disease CTD_human
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.620 GeneticVariation disease CLINVAR