NBN, nibrin, 4683

N. diseases: 214; N. variants: 106
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010828
Disease: Cytopenia
Cytopenia
0.300 Biomarker phenotype GENOMICS_ENGLAND First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. 15338273 2004
CUI: C0010828
Disease: Cytopenia
Cytopenia
0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 11325820 2001