ITK (IL2 inducible T cell kinase)

Gene

• Entrez ID: 3702
• Gene name: IL2 inducible T cell kinase
• Gene symbol: ITK
• Synonyms (NCBI Gene): EMT, LPFS1, LYK, PSCTK2
• Chromosome: 5
• Chromosome location: 5q33.3
• Summary: This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by R

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908191	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514260	C>G	Pathogenic	Coding sequence variant, stop gained
rs397514261	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554102738	T>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054291	hsa-miR-155-5p	qRT-PCR	22785227
MIRT643721	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT643720	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT643719	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT643717	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT643718	hsa-miR-3183	HITS-CLIP	23824327
MIRT643716	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT643715	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT643714	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT643713	hsa-miR-6083	HITS-CLIP	23824327
MIRT054291	hsa-miR-155-5p	RNA-seq	33235280
MIRT643721	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT643720	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT643719	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT643717	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT643718	hsa-miR-3183	HITS-CLIP	23824327
MIRT643716	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT643715	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT643714	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT643713	hsa-miR-6083	HITS-CLIP	23824327
MIRT1074447	hsa-let-7a	CLIP-seq
MIRT1074448	hsa-let-7b	CLIP-seq
MIRT1074449	hsa-let-7c	CLIP-seq
MIRT1074450	hsa-let-7d	CLIP-seq
MIRT1074451	hsa-let-7e	CLIP-seq
MIRT1074452	hsa-let-7f	CLIP-seq
MIRT1074453	hsa-let-7g	CLIP-seq
MIRT1074454	hsa-let-7i	CLIP-seq
MIRT1074455	hsa-miR-103a	CLIP-seq
MIRT1074456	hsa-miR-107	CLIP-seq
MIRT1074457	hsa-miR-1224-5p	CLIP-seq
MIRT1074458	hsa-miR-1261	CLIP-seq
MIRT1074459	hsa-miR-134	CLIP-seq
MIRT1074460	hsa-miR-15a	CLIP-seq
MIRT1074461	hsa-miR-15b	CLIP-seq
MIRT1074462	hsa-miR-16	CLIP-seq
MIRT1074463	hsa-miR-185	CLIP-seq
MIRT1074464	hsa-miR-193a-3p	CLIP-seq
MIRT1074465	hsa-miR-193b	CLIP-seq
MIRT1074466	hsa-miR-195	CLIP-seq
MIRT1074467	hsa-miR-2277-3p	CLIP-seq
MIRT1074468	hsa-miR-3118	CLIP-seq
MIRT1074469	hsa-miR-3119	CLIP-seq
MIRT1074470	hsa-miR-3120-3p	CLIP-seq
MIRT1074471	hsa-miR-3149	CLIP-seq
MIRT1074472	hsa-miR-320e	CLIP-seq
MIRT1074473	hsa-miR-3660	CLIP-seq
MIRT1074474	hsa-miR-3915	CLIP-seq
MIRT1074475	hsa-miR-424	CLIP-seq
MIRT1074476	hsa-miR-4274	CLIP-seq
MIRT1074477	hsa-miR-4287	CLIP-seq
MIRT1074478	hsa-miR-4306	CLIP-seq
MIRT1074479	hsa-miR-4428	CLIP-seq
MIRT1074480	hsa-miR-4458	CLIP-seq
MIRT1074481	hsa-miR-4477b	CLIP-seq
MIRT1074482	hsa-miR-4500	CLIP-seq
MIRT1074483	hsa-miR-4519	CLIP-seq
MIRT1074484	hsa-miR-4524	CLIP-seq
MIRT1074485	hsa-miR-4526	CLIP-seq
MIRT1074486	hsa-miR-4643	CLIP-seq
MIRT1074487	hsa-miR-4644	CLIP-seq
MIRT1074488	hsa-miR-466	CLIP-seq
MIRT1074489	hsa-miR-4661-3p	CLIP-seq
MIRT1074490	hsa-miR-4685-3p	CLIP-seq
MIRT1074491	hsa-miR-4689	CLIP-seq
MIRT1074492	hsa-miR-4704-5p	CLIP-seq
MIRT1074493	hsa-miR-4733-5p	CLIP-seq
MIRT1074494	hsa-miR-4756-3p	CLIP-seq
MIRT1074495	hsa-miR-4775	CLIP-seq
MIRT1074496	hsa-miR-4789-3p	CLIP-seq
MIRT1074497	hsa-miR-497	CLIP-seq
MIRT1074498	hsa-miR-503	CLIP-seq
MIRT1074499	hsa-miR-582-5p	CLIP-seq
MIRT1074500	hsa-miR-587	CLIP-seq
MIRT1074501	hsa-miR-590-3p	CLIP-seq
MIRT1074502	hsa-miR-646	CLIP-seq
MIRT1074503	hsa-miR-892b	CLIP-seq
MIRT1074504	hsa-miR-943	CLIP-seq
MIRT1074505	hsa-miR-98	CLIP-seq
MIRT2018403	hsa-miR-3185	CLIP-seq
MIRT2018404	hsa-miR-3689d	CLIP-seq
MIRT2018405	hsa-miR-4436b-3p	CLIP-seq
MIRT2018406	hsa-miR-4459	CLIP-seq
MIRT2018407	hsa-miR-4733-3p	CLIP-seq
MIRT2018408	hsa-miR-4761-3p	CLIP-seq
MIRT2018409	hsa-miR-665	CLIP-seq
MIRT2250280	hsa-miR-140-3p	CLIP-seq
MIRT2250281	hsa-miR-3545-5p	CLIP-seq
MIRT1074494	hsa-miR-4756-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0001819	Process	Positive regulation of cytokine production	ISS
GO:0001865	Process	NK T cell differentiation	IBA
GO:0001865	Process	NK T cell differentiation	IEA
GO:0002250	Process	Adaptive immune response	IBA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	ISS
GO:0002376	Process	Immune system process	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	12186560
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS	8364206
GO:0005515	Function	Protein binding	IPI	8892607, 12186560, 16273093, 17420479, 18443296, 19807924, 21725281, 22939624, 28514442, 31585087, 32707033, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005911	Component	Cell-cell junction	IEA
GO:0006968	Process	Cellular defense response	TAS	8364206
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8364206
GO:0008270	Function	Zinc ion binding	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042110	Process	T cell activation	IEA
GO:0042110	Process	T cell activation	TAS	12186560
GO:0046629	Process	Gamma-delta T cell activation	IEA
GO:0046629	Process	Gamma-delta T cell activation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050852	Process	T cell receptor signaling pathway	ISS
GO:0050853	Process	B cell receptor signaling pathway	IBA

Other IDs

• MIM: 186973
• HGNC: 6171
• e!Ensembl: ENSG00000113263

Protein

• UniProt ID: Q08881
• Protein name: Tyrosine-protein kinase ITK/TSK (EC 2.7.10.2) (Interleukin-2-inducible T-cell kinase) (IL-2-inducible T-cell kinase) (Kinase EMT) (T-cell-specific kinase) (Tyrosine-protein kinase Lyk)
• Protein function: Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activa
• PDB: 1SM2, 1SNU, 1SNX, 2E6I, 2LMJ, 2YUQ, 3MIY, 3MJ1, 3MJ2, 3QGW, 3QGY, 3T9T, 3V5J, 3V5L, 3V8T, 3V8W, 4HCT, 4HCU, 4HCV, 4KIO, 4L7S, 4M0Y, 4M0Z, 4M12, 4M13, 4M14, 4M15, 4MF0, 4MF1, 4PP9, 4PPA, 4PPB, 4PPC, 4PQN, 4QD6, 4RFM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	5 → 111	PH domain	Domain
  PF00779	BTK	119 → 148	BTK motif	Motif
  PF00018	SH3_1	177 → 223	SH3 domain	Domain
  PF00017	SH2	239 → 323	SH2 domain	Domain
  PF07714	PK_Tyr_Ser-Thr	363 → 612	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: T-cell lines and natural killer cell lines.
• Sequence:

  MNNFILLEEQLIKKSQQKRRTSPSNFKVRFFVLTKASLAYFEDRHGKKRTLKGSIELSRI
  KCVEIVKSDISIPCHYKYPFQVVHDNYLLYVFAPDRESRQRWVLALKEETRNNNSLVPKY
  HPNFWMDGKWRCCSQLEKLATGCAQYDPTKNASKKPLPPTPEDNRRPLWEPEETVVIALY
  DYQTNDPQELALRRNEEYCLLDSSEIHWWRVQDRNGHEGYVPSSYLVEKSPNNLETYEWY
  NKSISRDKAEKLLLDTGKEGAFMVRDSRTAGTYTVSVFTKAVVSENNPCIKHYHIKETND
  NPKRYYVAEKYVFDSIPLLINYHQHNGGGLVTRLRYPVCFGRQKAPVTAGLRYGKWVIDP
  SELTFVQEIGSGQFGLVHLGYWLNKDKVAIKTIREGAMSEEDFIEEAEVMMKLSHPKLVQ
  LYGVCLEQAPICLVFEFMEHGCLSDYLRTQRGLFAAETLLGMCLDVCEGMAYLEEACVIH
  RDLAARNCLVGENQVIKVSDFGMTRFVLDDQYTSSTGTKFPVKWASPEVFSFSRYSSKSD
  VWSFGVLMWEVFSEGKIPYENRSNSEVVEDISTGFRLYKPRLASTHVYQIMNHCWKERPE
  DRPAFSRLLRQLAEIAESGL

• Sequence length: 620

Pathways

KEGG:

Chemokine signaling pathway
T cell receptor signaling pathway
Leukocyte transendothelial migration

Reactome:

Generation of second messenger molecules
FCERI mediated Ca+2 mobilization

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Lymphoproliferative syndrome 1	Pathogenic; Likely pathogenic	rs781686293, rs1754674801, rs140451238, rs2480559806, rs1561664502, rs1755074965, rs121908191, rs2480559834, rs2480551478, rs2480508084, rs397514260, rs397514261	RCV001951266 RCV003068772 RCV002816276 RCV003011822 RCV003038442 RCV003042039 RCV000013578 RCV003514956 RCV003626209 RCV003988932 RCV000054557 RCV000054558	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoinflammatory syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO ITK DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITK-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoproliferative disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo-associated multiple autoimmune disease susceptibility 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	21514636		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	25118816, 25337257		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	21368711	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16159638, 21323647, 31505252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	18322190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31022269		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	31022269	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25118816, 29532266		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	30280445		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17268817, 21535870, 25152370, 25373557, 27412325, 30305210, 30621769, 31260685		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34867821	Associate	★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	10556826	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28515962		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34282055	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28440436		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	36802116	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31827238		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	21109689		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency due to ITK deficiency	Lymphoproliferative Disorder	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	21514636		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1L	Congenital disorder of glycosylation	Pubtator	19425169	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1L	Congenital disorder of glycosylation	Pubtator	19425169	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25011053		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26225835		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29287830		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	12483038		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29129599		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	12483038, 16159638		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	21514636		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	30778533	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29416661, 31553703		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28994107		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28994107		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25527128		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30738321		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	35980936	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	25118816		★☆☆☆☆ Found in Text Mining only
Hemophagocytic Syndrome	Hemophagocytic Syndrome	BEFREE	26056787		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24867713, 30939292	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	30939292	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21109689, 30778533, 39684891	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37730603	Associate	★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	31025232		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24089408		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24089408	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	27056244		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	39684891	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19425169, 22487848		★☆☆☆☆ Found in Text Mining only
ITK Deficiency	Lymphoproliferative syndrome	GENOMICS_ENGLAND_DG	21109689		★☆☆☆☆ Found in Text Mining only
ITK Deficiency	Lymphoproliferative syndrome	BEFREE	31507602		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	25118816		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	30999237		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31501225		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29613842		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	21109689, 27209435, 31562900	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	21674762, 27056244, 27209435		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19535334, 31402499		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	39684891	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	19425169, 21109689, 30778533	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	20670954, 21109689, 22487848, 26056787, 30778533		★☆☆☆☆ Found in Text Mining only
LYMPHOPROLIFERATIVE SYNDROME 1	Lymphoproliferative Disorder	ORPHANET_DG	19425169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHOPROLIFERATIVE SYNDROME 1	Lymphoproliferative Disorder	UNIPROT_DG	19425169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHOPROLIFERATIVE SYNDROME 1	Lymphoproliferative Disorder	CLINGEN_DG	19425169, 21109689, 22289921, 22487848, 25061172, 26056787, 9311799		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHOPROLIFERATIVE SYNDROME 1	Lymphoproliferative Disorder	GENOMICS_ENGLAND_DG	21109689		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHOPROLIFERATIVE SYNDROME 1	Lymphoproliferative Disorder	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	17268817, 25373557, 27412325, 30305210, 30621769, 31260685		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28440436		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29048402, 29258566		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29425687, 31122254, 31593800		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29302045		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20439538, 23672610, 27780854, 29669753, 31776419		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31421458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	33661190, 34957999	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29287830		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	28056464		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	25779945	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	24462896		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25118816, 28056464, 29613842, 30676751, 31479484		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	21368711		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28440436		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34702300	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29048402, 29258566		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37735204, 37881431	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	16341044, 18401419, 19295409, 20439538, 20670954, 25118816, 25337257, 27297792, 30217447, 31545408		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31234714		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29287830		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29425687, 31122254, 31593800		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37730603	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25011053		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	26225835		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	26225835		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	22984568	Associate	★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	25779945	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	31704557		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29198524, 31238980		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29523225		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29302045		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	27780854, 29669753, 30814910, 31545408		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30635009, 31308076		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	35003060	Associate	★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	23672610		★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	21514636, 24584040		★☆☆☆☆ Found in Text Mining only