Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker 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
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker 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
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker 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
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). 11325820

2001
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker 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
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. 3857858

1985