MCID: ANP001
MIFTS: 53

Anaplastic Large Cell Lymphoma malady

Rare diseases, Blood diseases, Cancer diseases, Immune diseases categories

Aliases & Classifications for Anaplastic Large Cell Lymphoma

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Anaplastic Large Cell Lymphoma:

Name: Anaplastic Large Cell Lymphoma 30 8 42 10 44 48
Alcl 42 48
Cd30 Positive Anaplastic Large Cell Lymphoma 48
Ki-1 Positive Anaplastic Large Cell Lymphoma 48
 
Ki-1+ Anaplastic Large Cell Lymphoma 61
Primary Systemic Alcl 48
Sacl 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
anaplastic large cell lymphoma:
Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology8 DOID:0050744
Orphanet48 98841
MESH via Orphanet34 D017728
ICD10 via Orphanet26 C83.3

Summaries for Anaplastic Large Cell Lymphoma

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Wikipedia:64 Anaplastic large-cell lymphoma (ALCL) is a type of non-Hodgkin lymphoma involving aberrant T-cells. It... more...

MalaCards based summary: Anaplastic Large Cell Lymphoma, also known as alcl, is related to dermatitis and pneumonia. An important gene associated with Anaplastic Large Cell Lymphoma is RNF213 (ring finger protein 213), and among its related pathways are Jak/Stat Pathway and Signaling events mediated by TCPTP. The compounds dfmo and chromium have been mentioned in the context of this disorder. Affiliated tissues include t cells, breast and bone, and related mouse phenotypes are tumorigenesis and integument.

Disease Ontology:8 A non-hodgkin lymphoma involving aberrant t-cells.

Related Diseases for Anaplastic Large Cell Lymphoma

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Diseases in the Anaplastic Large Cell Lymphoma family:

Anaplastic Small Cell Lymphoma

Diseases related to Anaplastic Large Cell Lymphoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 164)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis31.1GZMB, CCR4, CXCR3
2pneumonia31.0MUC1
3hodgkin lymphoma30.9MCL1, IL9, ALK, GZMB, STAT3, CCR4
4lymphomatoid papulosis30.9GZMB, NPM1, CXCR3, ALK, ACVRL1, CCR4
5mycosis fungoides30.8STAT3, CXCR3, GZMB, CCR4
6t-cell leukemia30.8CCR4, IL9, STAT3
7peripheral t-cell lymphoma30.7GZMB, MCL1, CXCR3, CCR4, ALK
8sarcoma30.7MUC1, ACVRL1, ALK
9b-cell lymphomas30.6ALK, MCL1, STAT3, CXCR3, NPM1, GZMB
10arthritis30.6JAK3, GZMB, STAT3, CXCR3
11lung cancer30.6ALK, JAK3, MUC1
12tuberculosis30.5GZMB, CXCR3, CCR4
13atopic dermatitis30.5CCR4, CXCR3, IL9
14chronic lymphocytic leukemia30.5MCL1, CXCR3, STAT3
15myeloma30.4MCL1, STAT3, ALK
16myeloid leukemia30.4STAT3, JAK3, MCL1, IL9, NPM1
17breast cancer30.3MCL1, GZMB, STAT3, MUC1
18melanoma30.1STAT3, MCL1, CCR4, GZMB, CXCR3
19asthma30.1JAK3, CXCR3, CCR4, IL9, GZMB
20rheumatoid arthritis30.1GZMB, CCR4, CXCR3, MCL1, JAK3
21leukemia30.1JAK3, MCL1, CXCR3, STAT3, NPM1, GZMB
22alk-positive anaplastic large cell lymphoma11.2
23primary cutaneous anaplastic large cell lymphoma11.2
24alk-negative anaplastic large cell lymphoma11.0
25hemophagocytic lymphohistiocytosis10.6
26inflammatory myofibroblastic tumor10.6
27cerebritis10.6
28histiocytosis10.6
29diffuse large b-cell lymphoma10.5
30soft tissue sarcoma10.5
31eccrine porocarcinoma10.5MUC1
32adult t-cell leukemia10.4
33burn scar10.4
34burns10.4
35hematopoietic stem cell transplantation10.4
36hepatitis10.4
37acquired immunodeficiency syndrome10.4
38malignant histiocytosis10.4
39dermatitis herpetiformis10.4
40eosinophilia10.4
41mediastinitis10.4
42pancreatitis10.4
43panniculitis10.4
44syphilis10.4
45reticulosarcoma10.4NPM1, ALK
46intermediate uveitis10.3CCR4, CXCR3
47contact dermatitis10.3CXCR3, CCR4
48alopecia10.3EBP
49allergic contact dermatitis10.3CCR4, CXCR3
50malignant fibroxanthoma10.3MUC1, ALK

Graphical network of the top 20 diseases related to Anaplastic Large Cell Lymphoma:



Diseases related to anaplastic large cell lymphoma

Symptoms for Anaplastic Large Cell Lymphoma

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Drugs & Therapeutics for Anaplastic Large Cell Lymphoma

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FDA approved drugs:

id Drug Name Active Ingredient(s)13 Pharmaceutical Company Approval Date
1
Adcetris13 38 BRENTUXIMAB VEDOTIN Seattle Genetics Approved August 2011
FDA Label: Adcetris
Malady that Drug Treats: Hodgkin lymphoma and anaplastic large cell lymphoma
Indications and Usage:13 ADCETRIS is a CD30-directed antibody-drug conjugate indicated for; treatment of patients with:; Hodgkin lymphoma after failure of autologous stem cell transplant; (ASCT) or after failure of at least two prior multi-agent chemotherapy; regimens in patients who are not ASCT candidates (1.1).; Systemic anaplastic large cell lymphoma after failure of at least one; prior multi-agent chemotherapy regimen (1.2).; Accelerated approval was granted for the above indications based on; overall response rate. An improvement in patient-reported outcomes or; survival has not been established. Continued approval for these indications; may be contingent upon verification and description of clinical benefit in; confirmatory trials.
DrugBank Targets:11 Tumor necrosis factor receptor superfamily member 8
Mechanism of Action:13 
Target: microtubule
Action: disruptor
FDA: Brentuximab vedotin is an ADC. The antibody is a chimeric IgG1 directed against CD30. The; small molecule, MMAE, is a microtubule disrupting agent. MMAE is covalently attached to the; antibody via a linker. Nonclinical data suggest that the anticancer activity of ADCETRIS is due; to the binding of the ADC to CD30-expressing cells, followed by internalization of the; ADC-CD30 complex, and the release of MMAE via proteolytic cleavage. Binding of MMAE to; tubulin disrupts the microtubule network within the cell, subsequently inducing cell cycle arrest; and apoptotic death of the cells.

Drug clinical trials:

Search ClinicalTrials for Anaplastic Large Cell Lymphoma

Search NIH Clinical Center for Anaplastic Large Cell Lymphoma

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Anaplastic Large Cell Lymphoma cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Anaplastic Large Cell Lymphoma:
Blood stem cell transplantation for hematological diseases
Hematopoietic stem cells for treatment of hematologic malignancies
Embryonic/Adult Cultured Cells Related to Anaplastic Large Cell Lymphoma:
Peripheral blood-derived hematopoietic stem cells (family)
Bone marrow-derived hematopoietic stem cells

Genetic Tests for Anaplastic Large Cell Lymphoma

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Anatomical Context for Anaplastic Large Cell Lymphoma

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MalaCards organs/tissues related to Anaplastic Large Cell Lymphoma:

31
T cells, Breast, Bone, Skin, B cells, Bone marrow, Lymph node, Lung, Neutrophil, Skeletal muscle, Brain, Myeloid, Colon, Liver, Pancreas, Testes, Spleen, Thymus, Spinal cord, Heart, Smooth muscle, Small intestine, Ovary, Placenta, Testis, Endothelial, Trachea

Animal Models for Anaplastic Large Cell Lymphoma or affiliated genes

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MGI Mouse Phenotypes related to Anaplastic Large Cell Lymphoma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9MUC1, CXCR3, STAT3, GZMB, NPM1
2MP:00107718.5NPM1, STAT3, MUC1, MCL1, EBP
3MP:00028738.3ACVRL1, STAT3, CXCR3, MUC1, MCL1
4MP:00053808.2EBP, MCL1, STAT3, ACVRL1, NPM1
5MP:00053818.1MUC1, JAK3, STAT3, ACVRL1, IL9
6MP:00053848.1MCL1, JAK3, CXCR3, STAT3, GZMB, NPM1
7MP:00107687.3EBP, MCL1, JAK3, CXCR3, STAT3, ACVRL1
8MP:00053877.2MCL1, JAK3, CXCR3, STAT3, CCR4, IL9
9MP:00053976.1NPM1, EBP, MCL1, JAK3, CXCR3, STAT3

Publications for Anaplastic Large Cell Lymphoma

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Articles related to Anaplastic Large Cell Lymphoma:

(show top 50)    (show all 835)
idTitleAuthorsYear
1
The NOD/Shi-scid/IL-2RI^(null) mice xenograft model recapitulates anaplastic large cell lymphoma dissemination to the bladder. (25248877)
2014
2
Anaplastic large cell lymphoma, ALK-negative. (22789917)
2013
3
Novel TRAF1-ALK fusion identified by deep RNA sequencing of anaplastic large cell lymphoma. (23999969)
2013
4
Clinical spectrum of primary cutaneous CD30-positive anaplastic large cell lymphoma: an analysis of the Mannheim Cutaneous Lymphoma Registry. (22525148)
2012
5
Targeting CD30 in anaplastic large cell lymphoma. (23065407)
2012
6
Primary cutaneous anaplastic large-cell lymphoma occurring in a case of chronic myeloid leukemia in remission. (22775801)
2012
7
The discovery and development of brentuximab vedotin for use in relapsed Hodgkin lymphoma and systemic anaplastic large cell lymphoma. (22781692)
2012
8
Systemic Capillary Leak Syndrome as an Initial Presentation of ALK-Negative Anaplastic Large Cell Lymphoma. (22953081)
2012
9
EORTC, ISCL, and USCLC consensus recommendations for the treatment of primary cutaneous CD30-positive lymphoproliferative disorders: lymphomatoid papulosis and primary cutaneous anaplastic large-cell lymphoma. (21841159)
2011
10
Peripheral eosinophilia camouflaging anaplastic large cell lymphoma. (18805872)
2011
11
Prognostic impact of morphologic and phenotypic features of childhood ALK-positive anaplastic large-cell lymphoma: results of the ALCL99 study. (22084369)
2011
12
Education and Imaging: Gastrointestinal: gastroduodenal involvement of ALK-positive anaplastic large cell lymphoma. (21488949)
2011
13
Anaplastic large cell lymphoma: a critical evaluation of cytomorphological features in seven cases. (19744187)
2010
14
Linkage of expression of chemokine receptors (CXCR3 and CCR4) and cytotoxic molecules in peripheral T cell lymphoma, not otherwise specified and ALK-negative anaplastic large cell lymphoma. (20217288)
2010
15
Resistance of cutaneous anaplastic large-cell lymphoma cells to apoptosis by death ligands is enhanced by CD30-mediated overexpression of c-FLIP. (19890350)
2010
16
Cutaneous anaplastic large cell lymphoma and peripheral T-cell lymphoma NOS show distinct chromosomal alterations and differential expression of chemokine receptors and apoptosis regulators. (19710685)
2010
17
ALK-negative anaplastic large cell lymphoma with extensive peripheral blood and bone marrow involvements manifested as "leukemic phase". (19695703)
2010
18
A phase II study of SGN-30 in cutaneous anaplastic large cell lymphoma and related lymphoproliferative disorders. (19789316)
2009
19
ALK-positive anaplastic large cell lymphoma with dic(2;4)(p23;q33). (19036440)
2009
20
Primary bone anaplastic large cell lymphoma]. (19739348)
2009
21
Primary cutaneous CD30 positive anaplastic large cell lymphoma in an adolescent. (20199449)
2009
22
Flow cytometric immunophenotyping of anaplastic large cell lymphoma. (19123736)
2009
23
Distribution of NPM1-ALK and X-ALK fusion transcripts in paediatric anaplastic large cell lymphoma: a molecular-histological correlation. (19545284)
2009
24
HIV-associated anaplastic large cell lymphoma: a report of three cases. (18753872)
2008
25
Transmission of anaplastic large cell lymphoma via organ donation after cardiac death. (18021286)
2008
26
The expression of myeloid antigens CD13 and/or CD33 is a marker of ALK+ anaplastic large cell lymphomas. (18794057)
2008
27
Images in haematology. Hypereosinophilia as a presenting feature of anaplastic large cell lymphoma. (17916107)
2008
28
A rapidly progressing, fatal case of primary systemic anaplastic large cell lymphoma presenting as erythroderma--association with carbamazepine. (19265618)
2008
29
Highly aggressive ALK-positive anaplastic large cell lymphoma with a leukemic phase and multi-organ involvement: a report of three cases and a review of the literature. (17396261)
2007
30
Coexistence of primary cutaneous anaplastic large cell lymphoma and mycosis fungoides in a patient with B-cell chronic lymphocytic leukaemia. (17927791)
2007
31
Differences in survivin location and Bcl-2 expression in CD30+ lymphoproliferative disorders of the skin compared with systemic anaplastic large cell lymphomas: an immunohistochemical study. (17484779)
2007
32
Anaplastic large cell lymphoma: a flow cytometric analysis of 29 cases. (17638668)
2007
33
Disseminated strongyloidiasis and cytomegalovirus infection in a patient with anaplastic large cell lymphoma. (17641892)
2007
34
Jak3 contributes to the activation of ALK and Stat3 in ALK(+) anaplastic large cell lymphoma. (16554750)
2006
35
Survivin expression predicts poorer prognosis in anaplastic large-cell lymphoma. (15117990)
2004
36
Anaplastic large cell lymphomas lack the expression of T-cell receptor molecules or molecules of proximal T-cell receptor signaling. (15297316)
2004
37
The nucleophosmin-anaplastic lymphoma kinase fusion protein induces c-Myc expression in pediatric anaplastic large cell lymphomas. (12213716)
2002
38
Anaplastic large-cell lymphoma which showed severe inflammatory status and myelodysplasia with increased VEGF and IL-6 serum levels after long-term immunosuppressive therapy. (11426493)
2001
39
Anaplastic lymphoma kinase expression as a marker of malignancy. Application to a case of anaplastic large cell lymphoma with huge granulomatous reaction. (10980638)
2000
40
Primary anaplastic large cell lymphoma of the small intestine. (10549257)
1999
41
Anaplastic large-cell lymphoma with rapid evolution to leukemic phase. (10550561)
1999
42
A murine xenograft model for human CD30+ anaplastic large cell lymphoma. Successful growth inhibition with an anti-CD30 antibody (HeFi-1). (10514417)
1999
43
Use of an anti-ALK antibody in the characterization of anaplastic large-cell lymphoma of childhood. (9187427)
1997
44
The monoclonal antibody ALK1 identifies a distinct morphological subtype of anaplastic large cell lymphoma associated with 2p23/ALK rearrangements. (9250148)
1997
45
Cytotoxic cell antigen expression in anaplastic large cell lymphomas of T- and null-cell type and Hodgkin's disease: evidence for distinct cellular origin. (9028330)
1997
46
NPM/ALK gene fusion transcripts identify a distinct subgroup of null type Ki-1 positive anaplastic large cell lymphomas. (8616079)
1996
47
Cytology of extranodal Ki-1 anaplastic large cell lymphoma. (8964173)
1996
48
Primary cutaneous Ki-1+ anaplastic large cell lymphoma: a morphologic, immunohistochemical and genetic study of an indolent case. (7650245)
1995
49
Reverse transcriptase polymerase chain reaction for the Ki-1 anaplastic large cell lymphoma-associated t(2;5) translocation in Hodgkin's disease. (7527617)
1994
50
Lymphohistiocytic T-cell lymphoma (anaplastic large cell lymphoma CD30+/Ki-1 + with a high content of reactive histiocytes). (2163351)
1990

Variations for Anaplastic Large Cell Lymphoma

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Expression for genes affiliated with Anaplastic Large Cell Lymphoma

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Search GEO for disease gene expression data for Anaplastic Large Cell Lymphoma.

Pathways for genes affiliated with Anaplastic Large Cell Lymphoma

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Pathways related to Anaplastic Large Cell Lymphoma according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway59
9.8JAK3, STAT3
29.8JAK3, STAT3
39.7STAT3, MCL1
4
Show member pathways
9.5GZMB, STAT3, JAK3
5
Show member pathways
Immune response IL 22 signaling pathway59
G protein signaling N RAS regulation pathway59
9.4STAT3, MCL1, JAK3
69.3STAT3, CCR4, JAK3
7
Show member pathways
9.2GZMB, ACVRL1, STAT3
8
Show member pathways
Type III interferon signaling36
9.0STAT3, IL9, JAK3
9
Show member pathways
8.9CXCR3, STAT3, CCR4, JAK3
10
Show member pathways
8.9STAT3, CXCR3, JAK3, CCR4
11
Show member pathways
8.8ALK, JAK3, STAT3, IL9
12
Show member pathways
8.8STAT3, JAK3, IL9, ALK
13
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway59
8.2MCL1, IL9, MUC1, JAK3, STAT3
14
Show member pathways
8.1IL9, CXCR3, ACVRL1, CCR4
15
Show member pathways
7.2IL9, ACVRL1, CCR4, STAT3, CXCR3, JAK3
16
Show member pathways
7.2ACVRL1, ALK, IL9, JAK3, CXCR3, STAT3
17
Show member pathways
6.8CCR4, MUC1, JAK3, CXCR3, STAT3, ACVRL1

Compounds for genes affiliated with Anaplastic Large Cell Lymphoma

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Compounds related to Anaplastic Large Cell Lymphoma according to GeneCards Suite gene sharing:

(show all 49)
idCompoundScoreTop Affiliating Genes
1dfmo44 28 6012.1STAT3, NPM1
2chromium4410.1MUC1, GZMB
35,6-dichloro-1-beta-d-ribofuranosylbenzimidazole4410.0NPM1, MCL1
4dasatinib44 50 1111.9STAT3, MCL1
5larc449.8CXCR3, CCR4
6agarose449.8GZMB, NPM1, MUC1
7imatinib44 50 1111.7STAT3, MCL1, GZMB
8mg 13244 6010.7MCL1, JAK3, STAT3
9curcumin449.7STAT3, JAK3, MCL1
10cytarabine44 50 1111.7MCL1, MUC1, GZMB
11phosphotyrosine449.7GZMB, ALK, STAT3, JAK3
125fluorouracil449.6MUC1, STAT3, MCL1
13matrigel449.6STAT3, CXCR3, MUC1
14rapamycin449.5GZMB, STAT3, NPM1, MCL1
15actinomycin d449.4MCL1, MUC1, STAT3, NPM1
16paclitaxel44 50 1111.4MCL1, STAT3, NPM1
17ribonucleic acid449.4MUC1, GZMB, CCR4
18cycloheximide449.4NPM1, MCL1, STAT3, JAK3
19cisplatin44 50 60 1112.4GZMB, MUC1, STAT3, MCL1
20tamoxifen44 50 28 1112.4EBP, STAT3, MUC1
21wortmannin449.4JAK3, STAT3, MCL1, CXCR3
22pge2449.3MCL1, JAK3, CXCR3, STAT3
23alanine449.3ALK, GZMB, STAT3, NPM1
24aspartate449.3MCL1, STAT3, NPM1, GZMB, ALK
25agar449.2STAT3, IL9, MUC1
26arginine449.2GZMB, STAT3, CXCR3, JAK3
27ethanol44 50 24 1112.2MUC1, STAT3, GZMB
28cholesterol44 28 24 1112.2STAT3, MUC1, CXCR3, EBP
29tarc449.1CXCR3, CCR4, IL9
30phosphatidylinositol449.1CXCR3, STAT3, ALK, JAK3, MCL1
31ly294002449.1GZMB, MCL1, JAK3, STAT3, CXCR3
32dexamethasone44 50 28 1112.0CXCR3, MUC1, GZMB, MCL1, STAT3
33thymidine44 249.9MUC1, CXCR3, IL9, STAT3
34genistein44 28 60 1 24 1113.9MCL1, STAT3, IL9, JAK3
35estrogen448.9JAK3, CXCR3, NPM1, STAT3, GZMB, MUC1
36adp44 28 2410.7ALK, ACVRL1, JAK3, CXCR3
3712-o-tetradecanoylphorbol 13-acetate448.7GZMB, MCL1, IL9, STAT3, MUC1
38nitric oxide44 24 1110.6MUC1, JAK3, CXCR3, GZMB, IL9
39rantes448.6IL9, CCR4, STAT3, CXCR3, GZMB
40threonine448.5MCL1, MUC1, JAK3, STAT3, ACVRL1, NPM1
41paraffin448.4MUC1, STAT3, CCR4, GZMB, ALK, MCL1
42oligonucleotide448.4GZMB, STAT3, MCL1, IL9, ACVRL1
43vegf448.1GZMB, ACVRL1, CXCR3, JAK3, MUC1, MCL1
44lipid448.0IL9, CCR4, JAK3, GZMB, MUC1, MCL1
45retinoic acid44 248.8MUC1, MCL1, CCR4, STAT3, GZMB, NPM1
46calcium44 50 24 1110.6MCL1, MUC1, JAK3, GZMB, NPM1, EBP
47serine447.0MCL1, JAK3, CXCR3, STAT3, ACVRL1, IL9
48tyrosine446.8GZMB, ALK, IL9, JAK3, STAT3, MCL1
49[alcl]446.6ALK, MUC1, NPM1, IL9, ACVRL1, CCR4

GO Terms for genes affiliated with Anaplastic Large Cell Lymphoma

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Cellular components related to Anaplastic Large Cell Lymphoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057378.1RNF213, MUC1, CXCR3, STAT3, GZMB, NPM1
2integral component of plasma membraneGO:00058877.5ALK, ACVRL1, CCR4, CXCR3, MUC1, EBP

Biological processes related to Anaplastic Large Cell Lymphoma according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphorylationGO:00163109.9STAT3, ALK
2JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.9STAT3, JAK3
3negative regulation of execution phase of apoptosisGO:019001189.8CXCR3, MCL1
4negative regulation of endothelial cell proliferationGO:00019379.3CXCR3, ACVRL1
5inflammatory responseGO:00069548.7IL9, CCR4, CXCR3
6signal transductionGO:00071658.6EBP, STAT3, ACVRL1, ALK, NPM1
7positive regulation of transcription from RNA polymerase II promoterGO:00459448.5ACVRL1, STAT3, CXCR3, JAK3

Molecular functions related to Anaplastic Large Cell Lymphoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chemokine receptor activityGO:00049509.4CCR4, CXCR3
2protein kinase bindingGO:00199019.0NPM1, ACVRL1, STAT3
3protein bindingGO:00055157.5MUC1, JAK3, STAT3, ACVRL1, ALK, GZMB

Sources for Anaplastic Large Cell Lymphoma

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet