rs104894419, LIG4

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Molecular and immunological characterization of DNA ligase IV deficiency. 26762768 2016
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
0.700 CausalMutation CLINVAR Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. 27063650 2016
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
0.700 CausalMutation CLINVAR Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 27612988 2016
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
0.700 CausalMutation CLINVAR Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. 25239263 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity. 26151233 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. 26172957 2015
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
0.700 CausalMutation CLINVAR Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. 24892279 2014
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
Lymphopenia
CUI: C0024312
Disease: Lymphopenia
0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
Decreased antibody level in blood
CUI: C4048270
Disease: Decreased antibody level in blood
0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Identification of the DNA repair defects in a case of Dubowitz syndrome. 23372718 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. 17345618 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. 16357942 2006
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
0.700 CausalMutation CLINVAR A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
LIG4 Syndrome
CUI: C1847827
Disease: LIG4 Syndrome
0.700 CausalMutation CLINVAR 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
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. 15333585 2004
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
Lymphopenia
CUI: C0024312
Disease: Lymphopenia
0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001