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: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CLINGEN Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. 14612522 2003
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CLINGEN The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 10612394 1999
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CLINGEN The domains found in nibrin and the NBS phenotype suggest that this disorder is caused by defective responses to DNA double-strand breaks. 9590180 1998
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CLINGEN Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively. 19409520 2009
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CLINGEN An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. 15333589 2004
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CLINGEN Interaction of FANCD2 and NBS1 in the DNA damage response. 12447395 2002
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CLINGEN Nijmegen breakage syndrome gene (NBS1) alterations and its protein (nibrin) expression in human ovarian tumours. 12485469 2002
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease CLINGEN Nbs1(DeltaB/DeltaB) cells are phenotypically identical to those established from NBS patients. 11967151 2002
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.340 Biomarker disease CLINGEN Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. 11889050 2002
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.340 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.340 Biomarker disease CLINGEN ATM-dependent phosphorylation of nibrin in response to radiation exposure. 10802669 2000
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.340 Biomarker disease CLINGEN Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. 23765759 2013
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease 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: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. 12833396 2003
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Here, we report a 53-year-old NBS patient, homozygous for the NBS1 mutation, 742insGG, in exon 7 and who presents with a particularly mild phenotype. 16415040 2006
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 11325820 2001
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND The domains found in nibrin and the NBS phenotype suggest that this disorder is caused by defective responses to DNA double-strand breaks. 9590180 1998
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. 3857858 1985
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.630 Biomarker disease GENOMICS_ENGLAND 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: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.630 Biomarker disease GENOMICS_ENGLAND Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 11325820 2001
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease GENOMICS_ENGLAND Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 11325820 2001
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease GENOMICS_ENGLAND Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 16415040 2006
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.620 Biomarker disease GENOMICS_ENGLAND We hypothesize that NBS1 may play an important role in the pathogenesis of AA. 15338273 2004
CUI: C0017638
Disease: Glioma
Glioma 		0.620 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017