T-LGL
MCID: TCL002
MIFTS: 56

T-Cell Large Granular Lymphocyte Leukemia (T-LGL) malady

Blood diseases, Cancer diseases, Immune diseases categories

Summaries for T-Cell Large Granular Lymphocyte Leukemia

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Disease Ontology:8 A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (lgls) in the peripheral blood.

MalaCards: T-Cell Large Granular Lymphocyte Leukemia, also known as proliferation of large granular lymphocytes, is related to leukemia and neutropenia. An important gene associated with T-Cell Large Granular Lymphocyte Leukemia is KIR2DL1 (killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1), and among its related pathways are Legionellosis and Malaria. The compounds cycloheximide and pentoxifylline have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and bone, and related mouse phenotypes are adipose tissue and digestive/alimentary.

Wikipedia:63 Large granular lymphocytic leukemia is a disease that exhibits an unexplained, chronic (> 6 months)... more...

Aliases & Classifications for T-Cell Large Granular Lymphocyte Leukemia

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Sources:
8Disease Ontology, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

t-cell large granular lymphocyte leukemia 8 48 60
proliferation of large granular lymphocytes 48
leukemia, large granular lymphocytic 60
large granular lymphocytic leukemia 8
leukemia lymphocytic large granular 44
lown-ganong-levine syndrome 60
t-cell lgl leukemia 48
t-lgl 48


External Ids:

Disease Ontology8 DOID:0050751
MESH via Orphanet35 D054066
ICD10 via Orphanet26 C91.5
SNOMED-CT via Orphanet57 128819001, 55081009, 277545003
UMLS via Orphanet61 C1955861

Related Diseases for T-Cell Large Granular Lymphocyte Leukemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to T-Cell Large Granular Lymphocyte Leukemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia31.8TNF, LBR, KLRK1, IL2RA, TRG, IL15
2neutropenia30.8STAT3
3arthritis30.8IL8, TNF, IL6
4myeloma30.7STAT3, IL15, IL6, KLRK1
5rheumatoid arthritis30.7KLRD1, KLRK1, TNF, LBR, TRG, IL2RA
6hepatitis30.6IL18
7sjogren's syndrome30.5IL2RA
8lupus erythematosus30.5IL18
9crohn's disease30.5TNF
10graft versus host disease30.5IL18, IL10, IL15, IL2RA, TNF
11systemic lupus erythematosus30.5IL2RA, IL18, IL6, IL15, TNF, KLRK1
12thrombocytopenia30.3IL6
13hepatitis b30.3IL18, IL10, IL2RA
14hepatitis c30.3TNF, IL10, IL18
15celiac disease30.3MICA, KLRK1, IL15
16hepatocellular carcinoma30.3IL15, IL6, KLRK1, STAT3
17ulcerative colitis30.3STAT3, IL8, IL18, IL10, IL6, IL15
18multiple sclerosis30.3KLRK1, TNF, LBR, IL2RA, IL15, IL10
19t-cell leukemia11.3
20lown-ganong-levine syndrome11.2
21chronic lymphocytic leukemia10.7
22atrial tachyarrhythmia with short pr interval10.6
23large granular lymphocyte leukemia10.5
24hemolytic anemia10.5
25right bundle branch block10.5
26sudden infant death syndrome10.5
27hypertrophic cardiomyopathy10.5
28autoimmune hemolytic anemia10.4
29purpura10.4
30pure red-cell aplasia10.4
31acute t cell leukemia10.4
32gamma heavy chain disease10.4
33natural killer cell leukemia10.4
34protein-losing enteropathy10.4
35acute leukemia10.4
36acute lymphocytic leukemia10.4
37hairy cell leukemia10.4
38heavy chain disease10.4
39neuropathy10.4
40prolymphocytic leukemia10.4
41autoimmune thrombocytopenic purpura10.2
42lambert-eaton myasthenic syndrome10.2
43acquired thrombocytopenia10.2
44common variable immunodeficiency10.2
45felty's syndrome10.2
46autoimmune hepatitis10.2
47malignant histiocytosis10.2
48granuloma annulare10.2
49aplastic anemia10.2
50candidiasis10.2

Graphical network of the top 20 diseases related to T-Cell Large Granular Lymphocyte Leukemia:



Diseases related to t-cell large granular lymphocyte leukemia

Clinical Features for T-Cell Large Granular Lymphocyte Leukemia

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Drugs & Therapeutics for T-Cell Large Granular Lymphocyte Leukemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for T-Cell Large Granular Lymphocyte Leukemia

Drug clinical trials:

Search ClinicalTrials for T-Cell Large Granular Lymphocyte Leukemia

Search NIH Clinical Center for T-Cell Large Granular Lymphocyte Leukemia

Search CenterWatch for T-Cell Large Granular Lymphocyte Leukemia

Genetic Tests for T-Cell Large Granular Lymphocyte Leukemia

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Anatomical Context for T-Cell Large Granular Lymphocyte Leukemia

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32MalaCards
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MalaCards organs/tissues related to T-Cell Large Granular Lymphocyte Leukemia:

32
T cells, Bone marrow, Bone, Nk cells, Spleen, B cells

Animal Models for T-Cell Large Granular Lymphocyte Leukemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to T-Cell Large Granular Lymphocyte Leukemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537510.2IL18
2MP:00053817.6TNF, LBR, STAT3, TRG, IL2RA, IL10
3MP:00053846.0KLRK1, TNF, LBR, STAT3, TRG, IL2RA
4MP:00053975.9TRG, STAT3, LBR, TNF, KLRK1, IL2RA
5MP:00053875.5IL6, KLRD1, KLRK1, TNF, LBR, STAT3

Publications for T-Cell Large Granular Lymphocyte Leukemia

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50PubMed
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Articles related to T-Cell Large Granular Lymphocyte Leukemia:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Deep sequencing of the T-cell receptor repertoire in CD8+ T-large granular lymphocyte leukemia identifies signature landscapes. (24149287)
2013
2
Familial CD3+ T Large Granular Lymphocyte Leukemia: Evidence that Genetic Predisposition and Antigen Selection Promote Clonal Cytotoxic T-Cell Responses. (24180333)
2013
3
Developing an in vitro model of T cell type of large granular lymphocyte leukemia. (24183305)
2013
4
STAT3 mutations are frequent in T-cell large granular lymphocytic leukemia with pure red cell aplasia. (24283217)
2013
5
Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation. (24317090)
2013
6
CD4(-)/CD8(-) variant of T-cell large granular lymphocytic leukemia or hepatosplenic T-cell lymphoma: a clinicopathologic dilemma. (23800602)
2013
7
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. (22694793)
2013
8
Extracorporeal photopheresis as a curative treatment strategy in non epidermotropic T-cell lymphoma and large granular lymphocyte leukemia. (22422944)
2012
9
Lymphocytosis: T-cell large granular lymphocyte leukemia. (23082329)
2012
10
Differential diagnosis of CD4-/CD8- I^I' T-cell large granular lymphocytic leukemia and hepatosplenic T-cell lymphoma. (22338065)
2012
11
Dynamical and structural analysis of a T cell survival network identifies novel candidate therapeutic targets for large granular lymphocyte leukemia. (22102804)
2011
12
Clonal drift demonstrates unexpected dynamics of the T-cell repertoire in T-large granular lymphocyte leukemia. (21865345)
2011
13
Bone marrow failure due to T-cell large granular lymphocytic leukemia in a patient with essential thrombocythemia. (20934219)
2011
14
A case report: Concurrent chronic myelomonocytic leukemia and T-cell large granular lymphocytic leukemia-type clonal proliferation as detected by multiparametric flow cytometry. (21337493)
2011
15
Long-term safety and efficacy of cyclosporin A therapy for T-cell large granular lymphocyte leukemia. (20038217)
2010
16
Lessons learned from an unusual presentation of CD3+, CD56- T-cell large granular lymphocyte leukemia. (20679608)
2010
17
MICA polymorphism identified by whole genome array associated with NKG2D-mediated cytotoxicity in T-cell large granular lymphocyte leukemia. (20460636)
2010
18
T-cell large granular lymphocyte leukemia: an Asian perspective. (20084380)
2010
19
Rapid and durable molecular response of refractory T-cell large granular lymphocyte leukemia after alemtuzumab treatment. (20211489)
2010
20
T cell large granular lymphocyte leukemia associated with rheumatoid arthritis and neutropenia. (19394280)
2009
21
T-cell large granular lymphocyte leukemia presenting as end-stage renal disease: the diagnostic role of flow-cytometric and clonality analysis of the urine sediment. (19203516)
2009
22
CD20-positive T-cell large granular lymphocyte leukemia: case report and review of the literature. (19687595)
2009
23
Protein-losing enteropathy due to T-cell large granular lymphocyte leukemia. (19307498)
2009
24
T cell large granular lymphocyte (LGL) leukemia associated with Behcet's disease: high expression of sFasL and IL-18 of CD8 LGL. (18236044)
2008
25
Outcomes of splenectomy in T-cell large granular lymphocyte leukemia with splenomegaly and cytopenia. (18550263)
2008
26
Biclonal T-cell receptor gammadelta+ large granular lymphocyte leukemia associated with rheumatoid arthritis. (18398755)
2008
27
Aggressive T-cell large granular lymphocyte leukemia: a case report and review of the literature. (17205534)
2007
28
CD20- and CD56-positive T-cell large granular lymphocyte leukemia in a human T-cell leukemia virus type 1 carrier. (18055343)
2007
29
T-cell large granular lymphocyte leukemia of donor origin after cord blood transplantation. (17875238)
2007
30
Characterization of T-cell large granular lymphocyte leukemia associated with Sjogren's syndrome-an important but under-recognized association. (16616153)
2006
31
Preclinical and phase I clinical trial of blockade of IL-15 using Mikbeta1 monoclonal antibody in T cell large granular lymphocyte leukemia. (16387851)
2006
32
Histopathology of the spleen in T-cell large granular lymphocyte leukemia and T-cell prolymphocytic leukemia: a comparative review. (15958859)
2005
33
T-cell large granular lymphocytic leukemia of donor origin occurring after allogeneic bone marrow transplantation for B-cell lymphoproliferative disorders. (15842042)
2005
34
CD52 expression in T-cell large granular lymphocyte leukemia--implications for treatment with alemtuzumab. (16019510)
2005
35
Remission of pure red cell aplasia in T-cell receptor gammadelta-large granular lymphocyte leukemia after therapy with low-dose alemtuzumab. (16193089)
2005
36
Pathologic clonal cytotoxic T-cell responses: nonrandom nature of the T-cell-receptor restriction in large granular lymphocyte leukemia. (15914562)
2005
37
Reversible paraneoplastic neuropathy associated with T-cell large granular lymphocyte leukemia. (15304606)
2004
38
T-cell large granular lymphocyte leukemia and related disorders. (15169980)
2004
39
Increased serum interleukin-18 in a patient with systemic lupus erythematosus and T-cell large granular lymphocytic leukemia. (17143689)
2004
40
Clinical features in T-cell vs. natural killer-cell variants of large granular lymphocyte leukemia. (12950235)
2003
41
Pathologic quiz case: chronic anemia with red cell aplasia and lymphocytosis in a middle-aged man. T-cell large granular lymphocyte leukemia. (12503585)
2002
42
Cytokine release by activated T-cells in large granular lymphocytic leukemia associated with autoimmune disorders. (11960393)
2002
43
Establishment of the T-cell large granular lymphocyte leukemia cell line MOTN-1 carrying natural killer-cell antigens. (12127564)
2002
44
CD8+ T cells in large granular lymphocyte leukemia are not defective in activation- and replication-related apoptosis. (11397476)
2001
45
SjAPgren's syndrome associated T cell large granular lymphocyte leukemia: a possible common etiopathogenesis. (11708433)
2001
46
CD3(-) large granular lymphocyte leukemia with clonal rearrangement of the gamma and beta genes of the T-cell receptor. (10942944)
2000
47
Improvement of extrathymic T cell type of large granular lymphocyte (LGL) leukemia by cyclosporin A: the serum level of Fas ligand is a marker of LGL leukemia activity. (11073168)
2000
48
Humoral immune abnormalities in T-cell large granular lymphocyte leukemia. (9031118)
1996
49
Rearrangement and expression of T-cell receptor genes in large granular lymphocyte leukemia. (3345349)
1988
50
Lack of gene rearrangement and mRNA expression of the beta chain of the T cell receptor in spontaneous rat large granular lymphocyte leukemia lines. (3872923)
1985

Genetic Variations for T-Cell Large Granular Lymphocyte Leukemia

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Expression for genes affiliated with T-Cell Large Granular Lymphocyte Leukemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with T-Cell Large Granular Lymphocyte Leukemia

Search GEO for disease gene expression data for T-Cell Large Granular Lymphocyte Leukemia.

Pathways for genes affiliated with T-Cell Large Granular Lymphocyte Leukemia

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 12EMD Millipore, 52R&D Systems
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Pathways related to T-Cell Large Granular Lymphocyte Leukemia according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2IL8
29.9IL18, KLRK1
3
Hide members
9.9IL15RA
49.9IL6, TNF
5
Hide members
9.7MICA, KIR2DL3, KIR2DL1
69.7IL18, IL8, IL6
7
Hide members
9.6TNF, IL2RA, IL8
89.6IL6, IL2RA, TNF
9
Hide members
9.6IL2RA, IL15RA
109.6TNF, IL8, IL6
11
Immune response Bacterial infections in normal airways
9.6IL6, IL8, TNF
12
Hide members
9.6IL6, IL8, TNF
13
Hide members
9.6STAT3, IL2RA, IL18
149.6STAT3, IL2RA, IL18
15
Cytokine production by Th17 cells in CF (Mouse model)
9.5IL6, STAT3, IL8
169.4IL18, IL15
17
Hide members
9.3IL6, IL8, IL18, TNF
18
Hide members
9.3TNF, IL18, IL8, IL6
199.3IL6, IL18, IL10, TNF
209.3TNF, IL10, IL18, IL6
219.3IL6, IL8, IL10, TNF
229.3TNF, IL10, IL8, IL6
239.3TNF, IL10, IL8, IL6
24
Hide members
9.3STAT3, IL2RA, IL18, IL6
25
Hide members
9.3IL6, IL18, IL2RA, STAT3
269.3STAT3, IL2RA, IL8, IL6
279.2TNF, STAT3, IL10, IL6
289.0IL6, IL15, TNF
29
Hide members
8.9IL6, IL18, IL10, STAT3, TNF
30
Development PDGF signaling via STATs and NF-kB
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8.9TNF, STAT3, IL10, IL18, IL6
31
Hide members
8.9TNF, STAT3, IL10, IL18, IL6
32
Hide members
8.9TNF, STAT3, IL10, IL8, IL6
33
Hide members
8.8IL2RA, IL15, IL15RA
348.8IL2RA, IL15, IL15RA
35
Hide members
8.8IL15RA, IL15, IL2RA
36
Hide members
8.5KLRD1, KLRK1, TNF, MICA, KIR2DL3, KIR2DL1
37
Hide members
8.4STAT3, IL15, IL15RA, IL18
388.2IL6, TNF, IL15, IL10, IL18, IL8
39
Hide members
8.2TNF, IL2RA, IL15, IL15RA, IL10
40
Hide members
8.1KLRD1, KLRK1, STAT3, MICA, IL2RA, IL18
41
Hide members
7.9TNF, STAT3, IL2RA, IL15, IL18, IL8
427.8STAT3, IL2RA, IL15, IL15RA, IL10, IL6
43
Hide members
7.8TNF, STAT3, IL2RA, IL15, IL15RA, IL6
44
Hide members
7.2KLRD1, TNF, IL2RA, IL15, IL15RA, IL10
45
Hide members
7.0TNF, STAT3, IL2RA, IL15, IL15RA, IL10

Compounds for genes affiliated with T-Cell Large Granular Lymphocyte Leukemia

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 2BitterDB, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to T-Cell Large Granular Lymphocyte Leukemia according to GeneCards/GeneDecks:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.6IL18
2pentoxifylline44 1111.4IL18, LBR
3gm-csf44 2811.3TNF, IL10
4prednisolone44 28 1112.3IL2RA
5hydrocortisone44 2 59 1113.2IL8
6cdp571449.7IL6, IL10, TNF
7natalizumab44 1110.7IL18, IL10, IL2RA, TNF
8con a449.7IL10, LBR, IL18, IL2RA
95 aminosalicylic acid449.7IL10, IL8, TNF, IL2RA
10mip 1alpha449.7IL10, TNF, IL8, IL6
112,5-oligoadenylate449.6IL2RA, TNF
12polymyxin b449.6IL6, IL10, TNF, IL8
13toxin-1449.5IL8, IL10, TNF, KLRD1
14imiquimod44 28 59 1112.5IL18, IL10, IL6, IL8, TNF
15groalpha449.5IL6, IL18, IL10, TNF, IL8
16lipoteichoic acid449.4IL10, IL18, IL8, IL6, TNF
17ifn-alpha449.3IL10, IL18, IL2RA, STAT3, IL6
18parthenolide44 210.3STAT3, TNF, IL6, IL8
19ciglitazone44 2810.3IL6, IL8, TNF, STAT3
20atorvastatin44 49 28 11 2413.3IL6, IL18, IL10, IL2RA, TNF
21pdtc449.3STAT3, TNF, IL6, IL8, IL18
2215-deoxy-delta-12,14-prostaglandin j2449.2IL8, IL6, IL10, STAT3, TNF
238-isoprostane449.2IL6, IL8, IL10, TNF
24sp 60012544 5910.2IL6, IL8, TNF, STAT3, IL18
25cyclosporin a44 28 5911.2LBR, IL15, IL2RA, STAT3
26dexamethasone44 49 28 1112.1LBR, STAT3, IL6, IL15
27thalidomide44 49 59 1112.1TNF, IL2RA, IL10, IL18, STAT3, IL6
28tuberculin449.1IL2RA, IL18, LBR, IL10, IL15
29neopterin449.0TNF, LBR, IL2RA, IL18, IL8, IL6
30n acetylcysteine448.9IL8, IL6, TNF, IL18, IL2RA, STAT3
31poly(i-c)448.9IL8, TNF, IL15, IL18, IL6
32sb 20358044 599.9STAT3, IL8, TNF, IL10, IL6, IL18
33peptidoglycan44 289.9IL15, TNF, IL10, IL8, IL6
34chloroquine44 2 49 28 1112.9IL18, IL2RA, TNF, IL15, IL10
35okt3448.7IL15, IL2RA, IL10, LBR, TNF, IL6
36ionomycin448.7LBR, IL18, TNF, IL15, IL2RA, IL10
37il-12448.7TNF, IL15, IL10, IL18, IL8, IL6
38etanercept44 49 1110.7IL10, IL18, TNF, IL15, IL8, IL6
39ccl344 289.6TNF, IL15, IL10, IL6, IL18, IL8
40rantes448.6IL2RA, STAT3, TNF, IL6, IL15, LBR
41methotrexate44 49 1110.6TNF, IL15, IL10, IL18, IL6, IL2RA
42rituximab44 49 1110.5TNF, IL2RA, IL6, IL10, IL15, STAT3
43infliximab44 49 1110.5IL6, IL10, IL18, TNF, IL15, LBR
44curcumin448.4IL6, IL18, IL15, STAT3, TNF, IL8
45il 10448.4IL10, IL2RA, IL15, TNF, IL6, IL8
46rapamycin448.2IL2RA, LBR, IL15, IL10, IL18, STAT3
47histamine44 28 2410.2LBR, IL6, IL8, IL18, IL10, IL15
48thymidine44 249.0IL6, IL18, IL15, IL2RA, STAT3, LBR
49polyinosinic-polycytidylic acid447.9IL6, TNF, IL8, IL15, STAT3, KLRK1
50vegf447.9IL2RA, IL15, IL6, IL18, IL8, IL10

GO Terms for genes affiliated with T-Cell Large Granular Lymphocyte Leukemia

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16Gene Ontology
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Cellular components related to T-Cell Large Granular Lymphocyte Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.2IL6, IL2RA, TNF, KLRD1
2extracellular spaceGO:0056156.9IL6, TNF, MICA, IL15, IL15RA, IL10

Biological processes related to T-Cell Large Granular Lymphocyte Leukemia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cytokine secretion involved in immune responseGO:00274010.5IL10
2type 2 immune responseGO:04209210.2IL18, IL10
3receptor biosynthetic processGO:03280010.2IL10, TNF
4negative regulation of lipid storageGO:01088810.1IL6, TNF
5epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.1IL6, TNF
6response to molecule of bacterial originGO:00223710.0IL10, IL8
7interleukin-6-mediated signaling pathwayGO:07010210.0STAT3, IL6
8positive regulation of chemokine productionGO:0327229.9TNF, IL18, IL6
9embryonic digestive tract developmentGO:0485669.9IL8, TNF
10response to glucocorticoid stimulusGO:0513849.8TNF, IL10, IL6
11positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.7IL6, IL10, TNF
12positive regulation of natural killer cell proliferationGO:0328199.7IL18, IL15
13positive regulation of tissue remodelingGO:0341059.7IL18, IL15
14negative regulation of growth of symbiont in hostGO:0441309.6IL10, TNF
15regulation of immune responseGO:0507769.5KIR2DL1, KIR2DL3, KLRD1
16positive regulation of interleukin-17 productionGO:0327409.4IL15, IL18
17response to drugGO:0424939.2IL6, IL10, STAT3, TNF
18positive regulation of natural killer cell differentiationGO:0328259.2IL15, IL15RA
19immune responseGO:0069558.8IL2RA, IL15, IL18, IL8, KIR2DL3, KIR2DL1
20inflammatory responseGO:0069548.6IL6, IL8, IL18, IL10, IL15, TNF

Molecular functions related to T-Cell Large Granular Lymphocyte Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051258.5IL6, IL18, IL10, IL15, TNF

Products for genes affiliated with T-Cell Large Granular Lymphocyte Leukemia

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  • Antibodies
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Sources for T-Cell Large Granular Lymphocyte Leukemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet