Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
essential thrombocythemia
Summary
- Synonym
-
- Essential thrombocythaemia
- familial thrombocytosis
- hemorrhagic thrombocythemia
- hereditary thrombocythemia
- primary Thrombocytosis
- Definition
- A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
- Super Class
- myeloproliferative neoplasm
External Links
- Disease Ontology
- DOID:2224
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 | |
| 6401 | SELE | selectin E | |
| 6403 | SELP | selectin P | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 8794 | TNFRSF10C | TNF receptor superfamily member 10c | |
| 8809 | IL18R1 | interleukin 18 receptor 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P12821 | Angiotensin-converting enzyme | |
| P13591 | Neural cell adhesion molecule 1 | |
| P13807 | Glycogen [starch] synthase, muscle | |
| P15289 | Arylsulfatase A | |
| P16109 | P-selectin | |
| P16442 | Histo-blood group ABO system transferase | |
| P16581 | E-selectin | |
| P17931 | Galectin-3 | |
| P19174 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001658 | Myocardial infarction |
| HP:0005506 | Chronic myelogenous leukemia |
| HP:0100785 | Insomnia |
| HP:0004420 | Arterial thrombosis |
| HP:0002076 | Migraine |
| HP:0012378 | Fatigue |
| HP:0001872 | Abnormality of thrombocytes |
| HP:0005561 | Abnormal bone marrow cell morphology |
| HP:0002488 | Acute leukemia |
| HP:0004866 | Impaired ADP-induced platelet aggregation |
