LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Nijmegen Breakage Syndrome ×
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 		0.030 GeneticVariation disease BEFREE To support this line of inquiry, we provide additional descriptive data on seven previously reported patients with Nijmegen breakage syndrome (NBS) (n = 3) and ataxia telangiectasia (AT) (n = 4) as well as eight previously unreported patients with iVDRV-induced cutaneous granulomas and DNA repair disorders including NBS (n = 1), AT (n = 5), DNA ligase 4 deficiency (n = 1), and Artemis deficiency (n = 1). 30607663 2019
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.030 GeneticVariation disease BEFREE A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0.030 GeneticVariation disease BEFREE We describe a boy with an NBS clinical phenotype but no mutation in either the NBS1 or the LIG4 genes. 12702161 2003