NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Nicolaides Baraitser syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		0.320 AlteredExpression disease BEFREE In the NBS condition, the SPC showed a reduced activation (NBS = 3.97%; NBS + LS = 4.49%; LS = 4.48%; ND = 4.61% of the maximal voluntary contraction) compared to the other conditions. 30608175 2019
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		0.320 GeneticVariation disease BEFREE Chromosome instability and nibrin protein variants in NBS heterozygotes. 12708449 2003
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		0.320 Biomarker disease GENOMICS_ENGLAND Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. 3857858 1985