Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
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
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
0.030 GeneticVariation disease BEFREE A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
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