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: C0025958
Disease: Microcephaly
Microcephaly
0.160 GeneticVariation disease BEFREE Nijmegen breakage syndrome caused by biallelic pathogenic variants of the DNA-damage response gene NBN, is characterized by severe microcephaly, cancer proneness, infertility, and karyotype abnormalities. 31729086 2020
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.160 Biomarker disease BEFREE Our study demonstrates the utility of NBS-iPSCs as a screening platform for anti-oxidants capable of suppressing DNA damage and a cellular model for studying NBN de-regulation in cancer and microcephaly. 28790359 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.160 GeneticVariation disease BEFREE Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and mental retardation, and cellular radiosensitivity. 21227757 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.160 Biomarker disease BEFREE Conditional disruption of the murine ortholog of NBS1, Nbn, in the CNS of mice was previously reported to cause microcephaly, severe cerebellar atrophy and ataxia. 17976584 2008
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.160 GeneticVariation disease BEFREE Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutations is a rare autosomal recessive disease with clinical features that include microcephaly, mental and growth retardation, immunodeficiency, increased radiosensitivity, and predisposition to cancer. 18593981 2008
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.160 GeneticVariation disease BEFREE We tested 67 Czech patients of different ages with simple microcephaly for the presence of the most common mutation in the NBS1 gene. 15033202 2004
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.160 Biomarker disease HPO