NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.620 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.620 GeneticVariation disease BEFREE Our results indicate that heterozygous carriers of the germ-line NBN gene mutations (c.511A>G and c.657_661del5) may exhibit increased susceptibility to developing MB. 19908051 2010
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.620 GeneticVariation disease LHGDN Seven of 42 (17%) medulloblastomas carried a total of 15 NBS1 mutations. 18593981 2008
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.620 GeneticVariation disease BEFREE Seven of 42 (17%) medulloblastomas carried a total of 15 NBS1 mutations. 18593981 2008
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.620 Biomarker disease HPO
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.620 CausalMutation disease CGI