MCID: MST009
MIFTS: 59

Mastocytosis malady

Skin diseases, Immune diseases, Blood diseases, Cancer diseases categories

Summaries for Mastocytosis

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Mastocytosis is a disorder that can occur in both children and adults. it is caused by the presence of too many mast cells in the body. mast cells contain substances such as histamine that regulate allergic reactions. signs and symptoms of mastocytosis may include musculoskeletal pain, abdominal discomfort, nausea, vomiting, ulcers, diarrhea, and skin lesions. treatment may include medications such as antihistamines (to prevent the effect of mast cell histamine) and anticholinergics (to relieve intestinal cramping).there are two broad categories of mastocytosis, cutaneous and systemic. cutaneous mastocytosis only affects the skin and is usually diagnosed in children. systemic mastocytosis affects more than one part of the body and is usually diagnosed in adults. gard provides additional information on cutaneous mastocytosis and systemic mastocytosis. last updated: 1/16/2013

MalaCards: Mastocytosis, also known as mast cell disease, is related to systemic mastocytosis and leukemia, and has symptoms including telangiectasiae of the skin, hot flushes/sensation of cold and facial pain/cephalalgia/migraine. An important gene associated with Mastocytosis is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Regulation of KIT signaling and Osteoblast Signaling. The compounds su6668 and ag-1296 have been mentioned in the context of this disorder. Affiliated tissues include skin and lung, and related mouse phenotypes are integument and digestive/alimentary.

Wikipedia:63 Mastocytosis, one of the mast cell diseases, is a rare disorder of both children and adults caused by... more...

Description from OMIM:46 154800

Aliases & Classifications for Mastocytosis

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48Orphanet, 60UMLS, 42NIH Rare Diseases, 22GTR, 10DISEASES, 44Novoseek, 20GeneTests, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
urticaria pigmentosa:
Inheritance: Sporadic; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

mastocytosis 42 22 10 44
mast cell disease 42 20 46
urticaria pigmentosa 48 60
maculopapular cutaneous mastocytosis 48
mast cell neoplasm 60


External Ids:

OMIM46 154800
MESH via Orphanet35 D014582
ICD10 via Orphanet26 Q82.2
SNOMED-CT via Orphanet57 78745000
UMLS via Orphanet61 C0042111
ICD1025 Q82.2

Related Diseases for Mastocytosis

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17GeneCards, 18GeneDecks
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Diseases in the Systemic Mastocytosis family:

mastocytosis

Diseases related to Mastocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 221)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis31.8PDGFRB
2leukemia31.0PDGFRA, FGFR1, KITLG, CD2, CD5, NTRK3
3indolent systemic mastocytosis30.9ISM1
4urticaria pigmentosa30.9KITLG, KIT
5acute leukemia30.7STAT5A, JAK2, NTRK3, FGFR1, KITLG, KIT
6mast-cell leukemia30.6NTRK3, KLRG1, KITLG, KIT
7myeloid leukemia30.6KITLG, JAK2, KIT, STAT5A, NTRK3
8eosinophilia30.3JAK2, CD2, FGFR1, IFNA2, IL2RA, PDGFRB
9myeloma30.2STAT5A, IFNA2, KITLG, FGFR1, JAK2
10mast cell neoplasm30.2NTRK3, HDC, KIT, KITLG
11sarcoma30.2KIT, PDGFRB, JAK2, PDGFRA, KITLG
12myelofibrosis30.1JAK2, KIT
13polycythemia30.0STAT5A, KITLG, JAK2
14neurofibroma30.0KIT, KITLG, PDGFRA, PDGFRB
15fibrosarcoma30.0PDGFRB, PDGFRA, JAK2, NTRK3
16polycythemia vera30.0IFNA2, KIT, JAK2, PDGFRA, STAT5A, KITLG
17pancreatitis29.9KITLG
18asthma29.9STAT5A, HDC, IL2RA, KITLG
19chronic lymphocytic leukemia29.9CD5, IL2RA, HDC, JAK2
20melanoma29.9STAT5A, HDC, CD2, KIT, KITLG, JAK2
21hepatitis29.7IFNA2
22piebaldism29.7PDGFRA, KITLG, KIT
23gastrointestinal stromal tumor29.7PDGFRA, KIT
24thrombocytosis29.7JAK2, KITLG, IFNA2
25adenocarcinoma29.7JAK2, PDGFRB, STAT5A, NTRK3, FGFR1, KITLG
26ovarian cancer29.7JAK2, PDGFRA, PDGFRB
27cutaneous mastocytosis10.9
28diffuse cutaneous mastocytosis10.7
29urticaria10.6
30aggressive systemic mastocytosis10.6
31osteoporosis10.5
32acute myeloid leukemia10.4
33sm-ahnmd10.3
34mastocytosis cutaneous with short stature conductive hearing loss and microtia10.2
35syringoma10.2
36skin disease10.2
37plaque-form urticaria pigmentosa10.2
38typical urticaria pigmentosa10.2
39nodular urticaria pigmentosa10.2
40bone fracture10.2
41mast-cell sarcoma10.2
42gastrointestinal system disease10.2
43pseudoxanthomatous diffuse cutaneous mastocytosis10.2
44microphthalmia10.2
45splenic disease10.2
46portal hypertension10.1
47hypertension10.1
48bullous diffuse cutaneous mastocytosis10.1
49bone lymphoma10.1
50diarrhea10.1

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to mastocytosis

Clinical Features for Mastocytosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

154800

Clinical synopsis from OMIM:

154800

Symptoms:

48 (show all 14)
  • telangiectasiae of the skin
  • hot flushes/sensation of cold
  • facial pain/cephalalgia/migraine
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • acute diarrhea
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • mastocytosis
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • pruritus/itching
  • follicular/erythematous/edematous papules/milium
  • macules

Drugs & Therapeutics for Mastocytosis

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

Search CenterWatch for Mastocytosis

Drug clinical trials:

Search ClinicalTrials for Mastocytosis

Search NIH Clinical Center for Mastocytosis

Search CenterWatch for Mastocytosis

Genetic Tests for Mastocytosis

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20GeneTests, 22GTR
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Genetic tests related to Mastocytosis:

id Genetic test Affiliating Genes
1 Mast Cell Disease20 KIT
2 Mastocytosis22

Anatomical Context for Mastocytosis

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32MalaCards
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MalaCards organs/tissues related to Mastocytosis:

32
Skin, Lung

Animal Models for Mastocytosis or affiliated genes

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Sources:
36MGI
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Publications for Mastocytosis

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Genetic Variations for Mastocytosis

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Expression for genes affiliated with Mastocytosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mastocytosis

Search GEO for disease gene expression data for Mastocytosis.

Pathways for genes affiliated with Mastocytosis

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Sources:
53Reactome, 37NCBI BioSystems Database, 4Cell Signaling Technology, 51QIAGEN, 12EMD Millipore, 49PharmGKB, 29KEGG, 52R&D Systems, 59Tocris Bioscience
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Pathways related to Mastocytosis according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4KITLG, KIT
210.4PDGFRB, PDGFRA
310.4PDGFRB, FGFR1, PDGFRA
4
Hide members
10.4CD2, NTRK3, IL2RA
510.4STAT5A, JAK2, IL2RA
6
Hide members
10.4STAT5A, JAK2, IL2RA
710.4IL2RA, STAT5A, JAK2
810.4IL2RA, STAT5A, JAK2
9
Immune response IL-2 activation and signaling pathway
Hide members
10.4IL2RA, STAT5A, JAK2
10
Hide members
10.4JAK2, STAT5A, IL2RA
1110.4STAT5A, JAK2, PDGFRB
12
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10.4FGFR1, KIT, PDGFRA, PDGFRB
13
Hide members
10.4STAT5A, JAK2, KIT, KITLG
1410.4PDGFRA, PDGFRB, STAT5A, IL2RA
15
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10.4STAT5A, JAK2, IL2RA, IFNA2
16
Hide members
10.4JAK2, STAT5A, IL2RA, IFNA2
1710.4STAT5A, IFNA2, JAK2, IL2RA
1810.4FGFR1, NTRK3, PDGFRB, PDGFRA
1910.4FGFR1, NTRK3, PDGFRA, PDGFRB
20
Hide members
10.4KIT, KITLG, FGFR1, PDGFRA, PDGFRB
21
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10.4FGFR1, PDGFRB, PDGFRA, KITLG, KIT
22
Development PDGF signaling via STATs and NF-kB
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10.4STAT5A, JAK2, PDGFRB, PDGFRA
23
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10.4PDGFRA, STAT5A, JAK2, PDGFRB
2410.3CD5, CD2, KITLG, IL2RA, KIT
25
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10.3PDGFRB, PDGFRA, FGFR1, NTRK3, KIT
26
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10.3PDGFRA, IL2RA, FGFR1, NTRK3, PDGFRB
27
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10.3NTRK3, JAK2, PDGFRA, FGFR1, PDGFRB
28
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10.3KIT, PDGFRB, PDGFRA, NTRK3, KITLG, FGFR1
29
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10.3PDGFRB, PDGFRA, STAT5A, FGFR1, KITLG, KIT
3010.3FGFR1, PDGFRA, STAT5A, KITLG, PDGFRB, KIT
3110.3STAT5A, PDGFRA, KITLG, KIT, FGFR1, PDGFRB
3210.3PDGFRA, JAK2, KIT, KITLG, PDGFRB, FGFR1
33
Hide members
10.3PDGFRA, KITLG, KIT, FGFR1, NTRK3, PDGFRB
34
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10.3KITLG, KIT, IL2RA, NTRK3, PDGFRA, PDGFRB
35
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10.3NTRK3, KIT, KITLG, IL2RA, FGFR1, PDGFRA
36
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10.3KITLG, KIT, IL2RA, PDGFRB, FGFR1, NTRK3
37
Hide members
10.3KIT, PDGFRB, PDGFRA, JAK2, STAT5A, FGFR1
3810.3IFNA2, KIT, KITLG, IL2RA, JAK2, FGFR1
39
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10.3KIT, FGFR1, PDGFRB, PDGFRA, KITLG, IL2RA
40
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10.2JAK2, KLRG1, FGFR1, STAT5A, PDGFRB, PDGFRA
41
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10.2KIT, KITLG, IL2RA, FGFR1, CD2, PDGFRA
42
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10.2NTRK3, STAT5A, FGFR1, IL2RA, JAK2, PDGFRA
43
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10.2STAT5A, NTRK3, CD2, FGFR1, KITLG, IL2RA
44
Hide members
10.2KITLG, PDGFRB, JAK2, PDGFRA, STAT5A, KIT
45
Hide members
10.2PDGFRA, JAK2, STAT5A, IFNA2, KIT, PDGFRB

Compounds for genes affiliated with Mastocytosis

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Mastocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1su66684410.8KIT, PDGFRB, FGFR1
2ag-12964410.8PDGFRA, KITLG, KIT, PDGFRB, STAT5A
3pkc 4124410.8PDGFRB, PDGFRA, KIT, STAT5A
4Regorafenib1110.8KIT, FGFR1, PDGFRA, PDGFRB
5su54164410.8KIT, KITLG, FGFR1, PDGFRB, STAT5A
6Pazopanib1110.8KIT, PDGFRA, PDGFRB
7hydroxyurea44 49 1112.8IFNA2, KIT, KITLG, JAK2, PDGFRA
8Ponatinib 1110.8FGFR1, PDGFRA, KIT
9cycloheximide4410.8NTRK3
10gp 1304410.7STAT5A, PDGFRB, KITLG, JAK2, KIT, IL2RA
11paclitaxel44 49 1112.7PDGFRB
12sunitinib44 49 1112.7PDGFRB, KIT, PDGFRA
135fluorouracil4410.7IL2RA, IFNA2, PDGFRB, KITLG, KIT
14agar4410.7KITLG, FGFR1, JAK2, STAT5A, PDGFRB, IFNA2
15paraffin4410.7PDGFRB, PDGFRA, KIT, KITLG, IL2RA, CD5
16aspartate4410.7SLC18A2, HDC, STAT5A, JAK2, PDGFRA, NTRK3
17glucose4410.7PDGFRB, CD2, FGFR1, SLC18A2, IFNA2, KITLG
18rapamycin4410.7STAT5A, IL2RA, JAK2, KITLG, KIT, PDGFRA
19ribonucleic acid4410.7KIT, FGFR1, PDGFRB, IFNA2, KITLG
20phosphotyrosine4410.7JAK2, PDGFRB, PDGFRA, FGFR1, STAT5A, KIT
21imatinib44 49 1112.7KITLG, KIT, FGFR1, NTRK3, STAT5A, PDGFRA
22cytarabine44 49 1112.7KIT, KITLG, STAT5A, IFNA2
23dasatinib44 49 1112.7KIT, PDGFRB, STAT5A
24beta-tyrosine4410.7JAK2, KIT
25phenylalanine4410.7STAT5A, FGFR1, KIT, PDGFRB, JAK2
26histamine44 28 2412.7KITLG, HDC, FGFR1, IFNA2, IL2RA, KIT
27genistein44 28 59 2 11 2415.7PDGFRB, IL2RA, STAT5A, JAK2, KITLG, FGFR1
28epinephrine44 11 2412.7IFNA2, JAK2, IL2RA, KITLG, SLC18A2
29Becaplermin1110.7PDGFRA, PDGFRB
30thymidine44 2411.7STAT5A, PDGFRA, KIT, IFNA2, JAK2, CD2
31steroid4410.7STAT5A, KITLG, IL2RA, FGFR1, IFNA2, KIT
32phosphatidylinositol4410.6STAT5A, PDGFRB, PDGFRA, JAK2, NTRK3, FGFR1
33vegf4410.6KITLG, IL2RA, FGFR1, KIT, NTRK3, STAT5A
34cysteine4410.6FGFR1, SLC18A2, KIT, IL2RA, STAT5A, JAK2
35con a4410.6IL2RA, CD2, IFNA2
36h2o24410.6IL2RA, PDGFRB, FGFR1, HDC, JAK2, KITLG
37retinoic acid44 2411.6IFNA2, STAT5A, KITLG, KIT, SLC18A2, NTRK3
38lipid4410.6JAK2, PDGFRB, IFNA2, SLC27A4, STAT5A, KITLG
39pd 98,0594410.6KIT, KITLG, FGFR1, STAT5A, JAK2
40ly2940024410.5KITLG, FGFR1, PDGFRB, JAK2, STAT5A
41calcium44 49 11 2413.5PDGFRA, HDC, CD2, FGFR1, KIT, PDGFRB
42tyrosine4410.5NTRK3, HDC, IFNA2, PDGFRB, JAK2, CD2
43wortmannin4410.5KITLG, CD2, JAK2, STAT5A, PDGFRB
44herbimycin a44 5911.5IL2RA, STAT5A, JAK2, KITLG
45testosterone44 59 11 2413.5KIT, FGFR1, KITLG, IL2RA, PDGFRB, NTRK3
46serine4410.4JAK2, SLC18A2
47oligonucleotide4410.4PDGFRB, PDGFRA, KIT, JAK2, STAT5A, FGFR1
48lysine4410.3IFNA2, KITLG, IL2RA, FGFR1, JAK2
49proline4410.2CD2, PDGFRB, JAK2, STAT5A, NTRK3
50cyclosporin a44 28 5912.0JAK2, STAT5A, IL2RA, KITLG, CD2

GO Terms for genes affiliated with Mastocytosis

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16Gene Ontology
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Cellular components related to Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00989710.4IL2RA, PDGFRA, CD5, CD2, KIT
2intrinsic to plasma membraneGO:03122610.3PDGFRA, PDGFRB
3integral to plasma membraneGO:00588710.3PDGFRA, NTRK3, CD5, CD2, FGFR1, SLC18A2
4plasma membraneGO:00588610.1FGFR1, CD2, CD5, PDGFRA, KLRG1, IL2RA
5extracellular regionGO:0055769.9KITLG, FGFR1, CD2, BSPH1, ISM1, IFNA2

Biological processes related to Mastocytosis according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:01086310.8PDGFRB, PDGFRA, KIT, FGFR1
2cell chemotaxisGO:06032610.7PDGFRA, PDGFRB, KIT
3positive regulation of phosphatidylinositol 3-kinase activityGO:04355210.7PDGFRB, KIT, PDGFRA
4phosphatidylinositol-mediated signalingGO:04801510.7PDGFRA, KITLG, FGFR1, KIT, PDGFRB
5positive regulation of phosphatidylinositol 3-kinase cascadeGO:01406810.7PDGFRA, PDGFRB, KIT, JAK2, FGFR1
6fibroblast growth factor receptor signaling pathwayGO:00854310.7KITLG, KIT, PDGFRB, PDGFRA, FGFR1
7positive regulation of tyrosine phosphorylation of Stat3 proteinGO:04251710.7JAK2, KIT, IFNA2
8platelet-derived growth factor receptor signaling pathwayGO:04800810.7PDGFRA, PDGFRB, JAK2
9Fc-epsilon receptor signaling pathwayGO:03809510.7PDGFRA, PDGFRB, KIT, KITLG, FGFR1
10metanephric glomerular capillary formationGO:07227710.7PDGFRB, PDGFRA
11epidermal growth factor receptor signaling pathwayGO:00717310.7KIT, FGFR1, KITLG, PDGFRA, PDGFRB
12peptidyl-tyrosine phosphorylationGO:01810810.7PDGFRA, FGFR1, PDGFRB, JAK2, STAT5A, KIT
13negative regulation of mast cell apoptotic processGO:03302610.7KITLG, STAT5A
14protein autophosphorylationGO:04677710.7NTRK3, FGFR1, KIT, JAK2, PDGFRB, PDGFRA
15positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:03809110.7PDGFRB, PDGFRA
16positive regulation of mast cell proliferationGO:07066810.7STAT5A, KITLG
17neurotrophin TRK receptor signaling pathwayGO:04801110.7KIT, PDGFRB, KITLG, FGFR1, PDGFRA
18innate immune responseGO:04508710.7KITLG, FGFR1, PDGFRA, KIT, PDGFRB, KLRG1
19positive regulation of cell migrationGO:03033510.6JAK2, NTRK3, PDGFRA, PDGFRB
20positive regulation of cell proliferationGO:00828410.6KIT, FGFR1, NTRK3, JAK2, PDGFRA, PDGFRB
21germ cell programmed cell deathGO:03523410.6KITLG, KIT
22cell surface receptor signaling pathwayGO:00716610.6KLRG1, IFNA2, CD2, IL2RA
23positive regulation of MAP kinase activityGO:04340610.6FGFR1, KITLG, PDGFRB
24luteinizationGO:00155310.6PDGFRA, STAT5A
25mammary gland epithelium developmentGO:06118010.5JAK2, STAT5A
26retina vasculature development in camera-type eyeGO:06129810.5PDGFRB, PDGFRA
27positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.4KIT, JAK2
28positive regulation of phosphoprotein phosphatase activityGO:03251610.4PDGFRB, JAK2
29cardiac myofibril assemblyGO:05500310.3PDGFRB, PDGFRA
30intracellular protein kinase cascadeGO:00724310.1PDGFRB, KIT, JAK2

Molecular functions related to Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00471310.4KIT, FGFR1, JAK2, PDGFRB
2platelet-derived growth factor receptor bindingGO:00516110.4PDGFRA, PDGFRB
3transmembrane receptor protein tyrosine kinase activityGO:00471410.4PDGFRA, NTRK3, KIT
4vascular endothelial growth factor bindingGO:03808510.3PDGFRA, PDGFRB
5platelet-derived growth factor bindingGO:04840710.1PDGFRA, PDGFRB

Products for genes affiliated with Mastocytosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mastocytosis

About this section
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