LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Seckel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 GeneticVariation disease BEFREE In contrast, we have recently found that biallelic mutations in LIG4 are a common cause of microcephalic primordial dwarfism (MPD), a phenotype characterized by prenatal-onset extreme global growth failure. 25728776 2015
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 GeneticVariation disease BEFREE Here, we report the identification of biallelic truncating LIG4 mutations in 11 patients with microcephalic primordial dwarfism presenting with restricted prenatal growth and extreme postnatal global growth failure (average OFC -10.1 s.d., height -5.1 s.d.). 24123394 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 Biomarker disease GENOMICS_ENGLAND DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001