LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Chronic myeloproliferative disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.310 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: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.310 Biomarker disease GENOMICS_ENGLAND DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001