LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome
0.310 GermlineCausalMutation disease ORPHANET Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. 24892279 2014
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome
0.310 GeneticVariation disease BEFREE These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations. 23372718 2013