ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Essential thrombocythemia

3 OMIM references -
5 associated genes
17 signs/symptoms

GCS1-CDG

Essential thrombocythemia

MOGS	(UniProt - OMIM)		CALR	(UniProt - OMIM)
			JAK2	(UniProt - OMIM)
			MPL	(UniProt - OMIM)
			TET2	(UniProt - OMIM)
			TP53	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MOGS	(0.63)	TP53

Citations in the biomedical literature:

GCS1-CDG		Essential thrombocythemia
	Synonym(s): - CDG syndrome type IIb - CDG-IIb - CDG2B - Carbohydrate deficient glycoprotein syndrome type IIb - Congenital disorder of glycosylation type 2b - Congenital disorder of glycosylation type IIb - Glucosidase 1 deficiency		Synonym(s): - ET - Essential thrombocytosis

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: D013920

GCS1-CDG		Essential thrombocythemia
	Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatocellular liver disease / hepatic failure - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Acute ischemic syndrome - Angor pectoris / myocardial infarction - Arterial embolism / thrombosis - Bone marrow anomalies - Cerebral vascular anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Platelet disorders / thrombopathies - Platelets shape anomalies - Thoracic / chest pain - Transient amaurosis / acute visual trouble - Transient cerebral ischemia / stroke - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Splenomegaly Occasional - Acute leukemia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia