ITK, IL2 inducible T cell kinase, 3702

N. diseases: 117; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 Biomarker disease CLINGEN Atypical Clinical Course in Pediatric Hodgkin Lymphoma: Association With Germline Mutations in Interleukin-2-inducible T-Cell Kinase. 26056787 2015
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 Biomarker disease CLINGEN Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia. 25061172 2014
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 Biomarker disease CLINGEN IL-2-inducible T-cell kinase deficiency with pulmonary manifestations due to disseminated Epstein-Barr virus infection. 22487848 2012
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 Biomarker disease CLINGEN Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases. 22289921 2012
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 Biomarker disease CLINGEN IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 21109689 2011
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 21109689 2011
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 GermlineCausalMutation disease ORPHANET Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 Biomarker disease CLINGEN Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 Biomarker disease CLINGEN Antiviral immune responses in Itk-deficient mice. 9311799 1997
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1 		0.700 CausalMutation disease CLINVAR
CUI: C4283841
Disease: ITK Deficiency
ITK Deficiency 		0.310 Biomarker disease BEFREE Our findings highlight the critical role of ITK for T cell activation and suggest the potential for supplemental magnesium to treat patients with ITK deficiency. 31507602 2019
CUI: C4283841
Disease: ITK Deficiency
ITK Deficiency 		0.310 Biomarker disease GENOMICS_ENGLAND IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 21109689 2011
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.300 Biomarker disease GENOMICS_ENGLAND IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 21109689 2011
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.300 GeneticVariation disease UNIPROT
CUI: C2751686
Disease: Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 		0.300 Biomarker disease CTD_human
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.120 Biomarker group BEFREE On one hand, the defective expansion of EBV-specific CD8 T cells results from mutations in genes involved in T-cell activation (such as RASGRP1, MAGT1, and ITK), DNA metabolism (CTPS1) or co-stimulatory pathways (CD70, CD27, and TNFSFR9 (also known as CD137/4-1BB)) leads to impaired elimination of proliferating EBV-infected B cells and the occurrence of lymphoma. 31402499 2019
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.120 GeneticVariation group BEFREE The lymphoma-associated fusion tyrosine kinase ITK-SYK requires pleckstrin homology domain-mediated membrane localization for activation and cellular transformation. 19535334 2009
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.120 Biomarker group HPO
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.110 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.110 Biomarker group BEFREE Our study provides a novel perspective on CF epithelial gene expression in the context of other lung disorders and conditions, and highlights the contribution of differentiation/EMT and injury to gene signatures of respiratory disease. 26225835 2015
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma 		0.100 Biomarker disease BEFREE These results first demonstrated that the activation of the IL2RG/JAK3/STAT5 signalling pathway contributed greatly to the oncogenic progress regulated by ITK‑SYK, supporting further investigation of JAK3 inhibitors for the treatment of PTCLs carrying the ITK‑SYK fusion gene. 31545408 2019