Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.010 GeneticVariation 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