NLRP2, NLR family pyrin domain containing 2, 55655

N. diseases: 155; N. variants: 21
Disease: Childhood Acute Lymphoblastic Leukemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.040 GeneticVariation disease BEFREE A rare polymorphic variant of NBS1 that resulted in an isoleucine to valine substitution at amino acid position 171 (I171V) was first identified in childhood acute lymphoblastic leukemia. 24830725 2014
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.040 GeneticVariation disease BEFREE These findings suggest that E185Q polymorphism in NBS1 may be a genetic modifier for developing ALL. 21166880 2011
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.040 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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.040 GeneticVariation disease BEFREE The observed NBS1 gene mutations in ALL patients points to its possible involvement in the pathogenesis of this disease. 11325820 2001