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: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 GeneticVariation disease CLINVAR Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype. 27855655 2016
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease GENOMICS_ENGLAND Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing. 27537055 2016
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 27612988 2016
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. 27063650 2016
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. 25239263 2015
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease BEFREE The diagnosis of LIG4 syndrome was confirmed by delayed DNA double-strand break repair kinetics in γ-irradiated fibroblasts from the patient and their restoration by an introduction of wild-type LIG4. 26172957 2015
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. 24892279 2014
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 GeneticVariation disease BEFREE Mutations in NHEJ genes, defining human syndromes deficient in DNA ligase IV (LIG4 Syndrome), XLF-Cernunnos, Artemis or DNA-PKcs, have been identified in such patients. 24629483 2014
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR Identification of the DNA repair defects in a case of Dubowitz syndrome. 23372718 2013
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 GermlineCausalMutation disease ORPHANET Identification of the DNA repair defects in a case of Dubowitz syndrome. 23372718 2013
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities. 24027040 2013
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease BEFREE Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). 22373003 2012
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease MGD These findings highlight the importance of LIG4 in lymphocyte development and function, and in genomic stability maintenance, and provide a model for the complex phenotype of LIG4 syndrome in humans. 20133615 2010
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease BEFREE These findings highlight the importance of LIG4 in lymphocyte development and function, and in genomic stability maintenance, and provide a model for the complex phenotype of LIG4 syndrome in humans. 20133615 2010
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease BEFREE DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining. 19418549 2009
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 GeneticVariation disease BEFREE The Lig4(Y288C) mouse, identified by means of a mutagenesis screening programme, is a mouse model for human LIG4 syndrome, showing immunodeficiency and growth retardation. 17554302 2007
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease MGD The Lig4(Y288C) mouse, identified by means of a mutagenesis screening programme, is a mouse model for human LIG4 syndrome, showing immunodeficiency and growth retardation. 17554302 2007
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease GENOMICS_ENGLAND To date, LIG4 mutations have only been described in a radiosensitive leukemia patient and in 4 patients with a designated LIG4 syndrome, which is associated with chromosomal instability, pancytopenia, and developmental and growth delay. 16357942 2006
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 GeneticVariation disease BEFREE To date, LIG4 mutations have only been described in a radiosensitive leukemia patient and in 4 patients with a designated LIG4 syndrome, which is associated with chromosomal instability, pancytopenia, and developmental and growth delay. 16357942 2006
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 GeneticVariation disease BEFREE LIG4 syndrome is conferred by hypomorphic mutations in DNA ligase IV, an essential component of DNA non-homologous end-joining (NHEJ), and is associated with pancytopaenia, developmental and growth delay and dysmorphic facial features. 15279811 2005
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 CausalMutation disease CLINVAR Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. 15333585 2004
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 GeneticVariation disease BEFREE Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation. 15333585 2004
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome
0.990 Biomarker disease GENOMICS_ENGLAND DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001