Disease: Nijmegen Breakage Syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.060 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: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.060 GeneticVariation disease BEFREE Patients affected by the autosomal recessive Nijmegen Breakage Syndrome (NBS [MIM 251260]) have possibly the highest risk for developing a malignancy of all the chromosomal instability syndromes. 19635536 2009
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.060 GeneticVariation disease BEFREE Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. 16840438 2007
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.060 Biomarker disease BEFREE Lymphocytes from a patient with the Nijmegen breakage syndrome (NBS/NBS) and his parents (NBS/+) have been analyzed to identify possible disturbances in chromosomal G2 repair. 9650762 1998
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.060 GeneticVariation disease BEFREE Examination of disease haplotypes segregating in 11 NBS pedigrees revealed recombination events that place the NBS gene between D8S1757 and D8S270. 9634525 1998
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.060 GeneticVariation disease BEFREE The recent mapping of the NBS gene to chromosome 8q21 demonstrates that NBS is genetically distinct from ataxia telangiectasia (AT). 9271379 1997