LCK (LCK proto-oncogene, Src family tyrosine kinase)

Gene

• Entrez ID: 3932
• Gene name: LCK proto-oncogene, Src family tyrosine kinase
• Gene symbol: LCK
• Synonyms (NCBI Gene): IMD22, LSK, YT16, p56lck, pp58lck
• Chromosome: 1
• Chromosome location: 1p35.2
• Summary: This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK doma

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777335	T>C	Pathogenic	Coding sequence variant, missense variant
rs1569967422	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017673	hsa-miR-335-5p	Microarray	18185580
MIRT2029138	hsa-miR-1197	CLIP-seq
MIRT2029139	hsa-miR-4436a	CLIP-seq
MIRT2029140	hsa-miR-4700-3p	CLIP-seq
MIRT2029138	hsa-miR-1197	CLIP-seq
MIRT2029139	hsa-miR-4436a	CLIP-seq
MIRT2029140	hsa-miR-4700-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Activation	7970721
ETS2	Activation	7970721
MYB	Activation	7970721

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000242	Component	Pericentriolar material	IDA	7513706
GO:0001772	Component	Immunological synapse	IDA	20007709
GO:0001784	Function	Phosphotyrosine residue binding	IPI	20624904
GO:0002429	Process	Immune response-activating cell surface receptor signaling pathway	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	EXP	1381360, 9799234, 12923167, 18697750
GO:0004713	Function	Protein tyrosine kinase activity	IDA	214242, 8478617
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IMP	8681956
GO:0004713	Function	Protein tyrosine kinase activity	TAS
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	8681956, 11606584, 16339550, 38614099
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	IDA	8506364
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	7507203, 7513706, 7852312, 8114715, 8576115, 8650207, 8798676, 9045636, 9175835, 9341123, 10209036, 10318843, 10369126, 10553045, 10656681, 11278465, 11741929, 11978774, 14625311, 14757743, 15536084, 15554700, 15827961, 16051843, 16099425, 16107303, 16195219, 16245368, 16461343, 1683
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	38614099
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12218089
GO:0005886	Component	Plasma membrane	IDA	12150984
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006468	Process	Protein phosphorylation	IDA	214242
GO:0006882	Process	Intracellular zinc ion homeostasis	IEP	11739864
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0009410	Process	Response to xenobiotic stimulus	IDA	16116473
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016004	Function	Phospholipase activator activity	IDA	11606584
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IMP	8681956
GO:0019901	Function	Protein kinase binding	IPI	8618896
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	22080863, 24714587
GO:0030097	Process	Hemopoiesis	NAS	12884910
GO:0030168	Process	Platelet activation	TAS
GO:0030217	Process	T cell differentiation	IBA
GO:0030217	Process	T cell differentiation	IMP	1579166
GO:0031295	Process	T cell costimulation	TAS
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IMP	27400149
GO:0035556	Process	Intracellular signal transduction	IDA	8681956
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	IMP	11606584
GO:0038083	Process	Peptidyl-tyrosine autophosphorylation	IDA	8478617
GO:0038094	Process	Fc-gamma receptor signaling pathway	IDA	8478617
GO:0038094	Process	Fc-gamma receptor signaling pathway	IEA
GO:0042110	Process	T cell activation	IDA	38354704
GO:0042169	Function	SH2 domain binding	IPI	7852312, 8794306
GO:0042492	Process	Gamma-delta T cell differentiation	IEA
GO:0042608	Function	T cell receptor binding	IPI	8681956
GO:0042609	Function	CD4 receptor binding	IEA
GO:0042609	Function	CD4 receptor binding	IPI	7486703
GO:0042610	Function	CD8 receptor binding	IPI	2470098
GO:0042802	Function	Identical protein binding	IPI	17118402, 24463463
GO:0043274	Function	Phospholipase binding	IPI	11606584
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	11368773
GO:0043548	Function	Phosphatidylinositol 3-kinase binding	IPI	7504174
GO:0045121	Component	Membrane raft	IDA	12150984, 12732664
GO:0045588	Process	Positive regulation of gamma-delta T cell differentiation	IEA
GO:0045589	Process	Regulation of regulatory T cell differentiation	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	11368773, 35271814, 38614099
GO:0050852	Process	T cell receptor signaling pathway	IDA	8943371, 38614099
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050853	Process	B cell receptor signaling pathway	IBA
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0050856	Process	Regulation of T cell receptor signaling pathway	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	NAS	12614355
GO:0050870	Process	Positive regulation of T cell activation	IDA	8943371
GO:0050900	Process	Leukocyte migration	IEA
GO:0050900	Process	Leukocyte migration	TAS
GO:0051117	Function	ATPase binding	IPI	15671290
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051249	Process	Regulation of lymphocyte activation	NAS	7852312
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0160162	Process	CD27 signaling pathway	IDA	38354704
GO:1903039	Process	Positive regulation of leukocyte cell-cell adhesion	IMP	27400149
GO:1990405	Function	Protein antigen binding	IEA
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	16116473

Other IDs

• MIM: 153390
• HGNC: 6524
• e!Ensembl: ENSG00000182866

Protein

• UniProt ID: P06239
• Protein name: Tyrosine-protein kinase Lck (EC 2.7.10.2) (Leukocyte C-terminal Src kinase) (LSK) (Lymphocyte cell-specific protein-tyrosine kinase) (Protein YT16) (Proto-oncogene Lck) (T cell-specific protein-tyrosine kinase) (p56-LCK)
• Protein function: Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells. Plays a key role in T-cell antigen receptor (TCR)-linked signal transduc
• PDB: 1BHF, 1BHH, 1CWD, 1CWE, 1FBZ, 1H92, 1IJR, 1KIK, 1LCJ, 1LCK, 1LKK, 1LKL, 1Q68, 1Q69, 1QPC, 1QPD, 1QPE, 1QPJ, 1X27, 2IIM, 2OF2, 2OF4, 2OFU, 2OFV, 2OG8, 2PL0, 2ZM1, 2ZM4, 2ZYB, 3AC1, 3AC2, 3AC3, 3AC4, 3AC5, 3AC8, 3ACJ, 3ACK, 3AD4, 3AD5, 3AD6, 3B2W, 3BRH, 3BYM, 3BYO, 3BYS, 3BYU, 3KMM, 3KXZ, 3LCK, 3MPM, 4C3F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00018	SH3_1	67 → 113	SH3 domain	Domain
  PF00017	SH2	127 → 209	SH2 domain	Domain
  PF07714	PK_Tyr_Ser-Thr	245 → 494	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed specifically in lymphoid cells.
• Sequence:

  MGCGCSSHPEDDWMENIDVCENCHYPIVPLDGKGTLLIRNGSEVRDPLVTYEGSNPPASP
  LQDNLVIALHSYEPSHDGDLGFEKGEQLRILEQSGEWWKAQSLTTGQEGFIPFNFVAKAN
  SLEPEPWFFKNLSRKDAERQLLAPGNTHGSFLIRESESTAGSFSLSVRDFDQNQGEVVKH
  YKIRNLDNGGFYISPRITFPGLHELVRHYTNASDGLCTRLSRPCQTQKPQKPWWEDEWEV
  PRETLKLVERLGAGQFGEVWMGYYNGHTKVAVKSLKQGSMSPDAFLAEANLMKQLQHQRL
  VRLYAVVTQEPIYIITEYMENGSLVDFLKTPSGIKLTINKLLDMAAQIAEGMAFIEERNY
  IHRDLRAANILVSDTLSCKIADFGLARLIEDNEYTAREGAKFPIKWTAPEAINYGTFTIK
  SDVWSFGILLTEIVTHGRIPYPGMTNPEVIQNLERGYRMVRPDNCPEELYQLMRLCWKER
  PEDRPTFDYLRSVLEDFFTATEGQYQPQP

• Sequence length: 509

Pathways

KEGG:

NF-kappa B signaling pathway
Osteoclast differentiation
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Yersinia infection
Human T-cell leukemia virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Primary immunodeficiency

Reactome:

GPVI-mediated activation cascade
PIP3 activates AKT signaling
Signaling by SCF-KIT
Regulation of KIT signaling
Nef and signal transduction
Nef Mediated CD4 Down-regulation
Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
PECAM1 interactions
Constitutive Signaling by Aberrant PI3K in Cancer
DAP12 signaling
CD28 co-stimulation
CD28 dependent PI3K/Akt signaling
CD28 dependent Vav1 pathway
CTLA4 inhibitory signaling
PD-1 signaling
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Interleukin-2 signaling

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
Severe combined immunodeficiency disease	Likely pathogenic	rs2521644688	RCV002470002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency due to LCK deficiency	Pathogenic; Likely pathogenic	rs1640237880, rs587777335, rs2124355238, rs2521638529, rs1640240931, rs2521697784, rs2521643296, rs2521748820, rs1318678254, rs1569967422, rs1640406042	RCV001342141 RCV000114989 RCV001943020 RCV002903252 RCV002954412 RCV003746135 RCV003988799 RCV003988800 RCV003988801 RCV000991355 RCV001051256	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 22	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LCK-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY DUE TO LYMPHOCYTE-SPECIFIC PROTEIN-TYROSINE KINASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	1680958, 20208138		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28978671		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27335052		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	1680958, 2384277, 2786034		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	29752758		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	22571903		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	14534291	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	33858751	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32840301, 33430905	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14699120, 23558942, 26126114, 31715586, 32710281	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	33159014	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24564241, 32730361, 34218795	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33213062	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31672930, 40612864	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31515669		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36733486	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	36316672	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997, 33206327	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29903769		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36162702	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16769579, 23505068, 31726100		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	9329971	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	8869106, 9416836		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	29562499, 7499213	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	8869106		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11180095, 9490199	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	11351273		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	22985903		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	11351273		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29903769		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30015926	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31499127		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	25990246	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	9329971	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12401726, 15331563		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12401726, 15331563		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11067948, 12401726, 15331563, 31112992		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36568106	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30078220		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16769579		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33159014	Associate	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	27087313		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32237064, 34395626	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20971076		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	29101238		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34522174	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	9672851		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35090306	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	10742150		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	36430477	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	8086341		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	8191217		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	16304050	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	14534291	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24089408	Associate	★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 22	Immunodeficiency	GENOMICS_ENGLAND_DG	11351273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 22	Immunodeficiency	UNIPROT_DG	22985903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 22	Immunodeficiency	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 22	Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 22	Immunodeficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	9329971	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	15967991	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	1530879, 8611704	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18455126, 3257410		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28978671		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	12562214, 1379847, 2786034, 3257410, 8139546		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24564241		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	LHGDN	17078813		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	17078813	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24135919	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	11681490, 12746907, 15085197, 17082661	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19201859, 37426642	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11681490		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	1680958, 20208138		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	2779553	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	32237064	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	3463975		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	20208138	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	18722877		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	11351273		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	10706447		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	24688028	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	16769579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24135919		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31515669		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29938870, 31253147		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1680958, 16818755, 24155921, 27087313, 29107425, 29388341, 31315298, 8086341, 8670867, 8869106		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11180095		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16474166		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	16769579		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27335052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	27335052	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	36341345	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	31253147		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26210498	Associate	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	8652383		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	34116687	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14717778	Inhibit	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	10903801, 25779945	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	31704808		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	35237874	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37274867	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10706447, 16769579, 18651178, 19874850, 25997448, 27335052, 29062038, 29938870, 31515669, 31803974, 9416836, 9520462		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	3463975		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	18835245		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24135919, 29937990		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34330510	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37063877	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31515669		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31515669, 37773310	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33213062	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	26358743	Stimulate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	40004169	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	1680958, 20208138		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	1663780, 23872305, 29101238, 8049439		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29938870, 31253147		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29938870, 31253147	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	23977094, 33108241	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29107425		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21177920	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	24284293	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	10742150		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24564241		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	24564241	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	35663995	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	9664084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	9664084	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to LCK deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sezary Syndrome	Sezary Syndrome	BEFREE	18722877		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	25779945	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27087313		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	23870818		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	15513966, 1580566		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	14688799, 20876849		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32228629, 33204728	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35090306	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	35003060	Associate	★☆☆☆☆ Found in Text Mining only