LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		0.810 GeneticVariation BEFREE Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. 20133615 2010
dbSNP: rs104894420
rs104894420
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		0.810 GeneticVariation 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
dbSNP: rs104894420
rs104894420
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		0.810 GeneticVariation UNIPROT DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		0.810 GeneticVariation UNIPROT DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894420
rs104894420
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894418
rs104894418
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		0.710 GeneticVariation 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
dbSNP: rs104894418
rs104894418
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Molecular and immunological characterization of DNA ligase IV deficiency. 26762768 2016
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 CausalMutation CLINVAR Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. 27063650 2016
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 CausalMutation CLINVAR Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 27612988 2016
dbSNP: rs375554612
rs375554612
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		C 0.700 CausalMutation CLINVAR Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 27612988 2016
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		G 0.700 CausalMutation CLINVAR Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. 27063650 2016
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Molecular and immunological characterization of DNA ligase IV deficiency. 26762768 2016
dbSNP: rs886037777
rs886037777
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		G 0.700 GeneticVariation 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
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 CausalMutation CLINVAR Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. 25239263 2015
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity. 26151233 2015
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. 26172957 2015
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. 26172957 2015
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity. 26151233 2015
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 CausalMutation CLINVAR Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. 24892279 2014
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0013336
Disease:
Dwarfism 		A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0342573
Disease:
PITUITARY DWARFISM I 		A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0024312
Disease:
Lymphopenia 		A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014