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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.140 GeneticVariation disease BEFREE NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia. 25176580 2014
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.140 GeneticVariation disease BEFREE These findings suggest that E185Q polymorphism in NBS1 may be a genetic modifier for developing ALL. 21166880 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.140 GeneticVariation disease BEFREE The NBS1 mutation 657del5 on one allele was found in 3 of 270 patients with ALL and 2 of 212 children and adolescents with NHL; no carrier was found among 63 patients with Hodgkin lymphoma (HL). 16152606 2006
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.140 GeneticVariation disease BEFREE Four children with acute lymphoblastic leukemia have been reported to be heterozygous for a germline and/or somatic missense mutation in NBS1, leading to the I171V substitution. 15338273 2004
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.140 CausalMutation disease CLINVAR
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.140 GeneticVariation disease CLINVAR