Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. 27063650

2016
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 27612988

2016
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. 25239263

2015
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. 24892279

2014
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910

2005
dbSNP: rs104894419
rs104894419
LIG4
A 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
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494

2001
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 GeneticVariation CLINVAR