ITK, IL2 inducible T cell kinase, 3702

N. diseases: 117; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs411174
rs411174
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0233849
Disease:
Personality Traits
0.800 GeneticVariation GWASCAT Genome-wide association study of personality traits in bipolar patients. 21368711 2011
dbSNP: rs411174
rs411174
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0233849
Disease:
Personality Traits
0.800 GeneticVariation GWASDB Genome-wide association study of personality traits in bipolar patients. 21368711 2011
dbSNP: rs121908191
rs121908191
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C3552634
Disease:
LYMPHOPROLIFERATIVE SYNDROME 1
0.800 GeneticVariation UNIPROT Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009
dbSNP: rs121908191
rs121908191
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C3552634
Disease:
LYMPHOPROLIFERATIVE SYNDROME 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs111782388
rs111782388
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0035242
Disease:
Respiratory Tract Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs13360007
rs13360007
Entrez Id: 3702;9443
Gene Symbol: ITK;MED7
ITK;MED7
CUI: C0020676
Disease:
Hypothyroidism
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs450067
rs450067
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs397514260
rs397514260
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C3552634
Disease:
LYMPHOPROLIFERATIVE SYNDROME 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs397514261
rs397514261
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C3552634
Disease:
LYMPHOPROLIFERATIVE SYNDROME 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs779372373
rs779372373
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0278701
Disease:
Gastric Adenocarcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs246871
rs246871
Entrez Id: 3702;9443
Gene Symbol: ITK;MED7
ITK;MED7
CUI: C0019163
Disease:
Hepatitis B
0.020 GeneticVariation BEFREE These findings suggest that PD1 rs41386349 and rs6710479 and TIM3 rs246871 and interactions between PD1 and TIM3 polymorphisms may affect the susceptibility of chronic HBV infection and PD1 rs2227982, rs6710479, and rs7421861 may implicate in hepatocarcinogenesis. 30939292 2019
dbSNP: rs31223
rs31223
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0019163
Disease:
Hepatitis B
0.020 GeneticVariation BEFREE A best MDR model composed of PD1 rs2227982, rs41386349, and rs7421861, and TIM3 rs11134551, rs11742259, rs246871, rs25855, and rs31223 was observed between patients with chronic HBV infection and HBV infection resolvers (maximum testing balance accuracy, 0.5803; maximum cross-validation consistency, 9/10; P = 0.0010). 30939292 2019
dbSNP: rs246871
rs246871
Entrez Id: 3702;9443
Gene Symbol: ITK;MED7
ITK;MED7
CUI: C0019163
Disease:
Hepatitis B
0.020 GeneticVariation BEFREE Our study found that rs31223 and rs246871 were associated with disease progression of HBV infection, while none of the three SNPs was relevant to HBV susceptibility. 24867713 2014
dbSNP: rs31223
rs31223
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0019163
Disease:
Hepatitis B
0.020 GeneticVariation BEFREE Our study found that rs31223 and rs246871 were associated with disease progression of HBV infection, while none of the three SNPs was relevant to HBV susceptibility. 24867713 2014
dbSNP: rs246871
rs246871
Entrez Id: 3702;9443
Gene Symbol: ITK;MED7
ITK;MED7
CUI: C1512409
Disease:
Hepatocarcinogenesis
0.010 GeneticVariation BEFREE These findings suggest that PD1 rs41386349 and rs6710479 and TIM3 rs246871 and interactions between PD1 and TIM3 polymorphisms may affect the susceptibility of chronic HBV infection and PD1 rs2227982, rs6710479, and rs7421861 may implicate in hepatocarcinogenesis. 30939292 2019
dbSNP: rs886713435
rs886713435
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0024307
Disease:
Lymphomatoid Granulomatosis
0.010 GeneticVariation BEFREE We identified a patient with a novel homozygous missense mutation (D540N) in a highly conserved residue in the kinase domain of ITK who presented with EBV-positive lymphomatoid granulomatosis. 31507602 2019
dbSNP: rs140451238
rs140451238
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE Two promoter hotspot mutations C228T and C250T were identified in 18.0% (167/927) of our cohort and were significantly associated with poor 5 years disease-free survival and distant metastasis of PTC. 29266240 2018
dbSNP: rs140451238
rs140451238
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C0238463
Disease:
Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE Two promoter hotspot mutations C228T and C250T were identified in 18.0% (167/927) of our cohort and were significantly associated with poor 5 years disease-free survival and distant metastasis of PTC. 29266240 2018
dbSNP: rs246871
rs246871
Entrez Id: 3702;9443
Gene Symbol: ITK;MED7
ITK;MED7
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The minor allele "C" of rs31223 was found to be associated with an increased probability of HBsAg seroclearance (P = 0.033) and genotype "CC" of rs246871 to be associated with an increased probability of HBV-associated HCC (P = 0.007). 24867713 2014
dbSNP: rs31223
rs31223
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The minor allele "C" of rs31223 was found to be associated with an increased probability of HBsAg seroclearance (P = 0.033) and genotype "CC" of rs246871 to be associated with an increased probability of HBV-associated HCC (P = 0.007). 24867713 2014