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Bernard-Soulier syndrome

2 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Myxoid/round cell liposarcoma

1 OMIM reference -
2 associated genes
4 signs/symptoms

Bernard-Soulier syndrome

Myxoid/round cell liposarcoma

GP1BA	(UniProt - OMIM)		DDIT3	(UniProt - OMIM)
GP1BB	(UniProt - OMIM)		FUS	(UniProt - OMIM)
GP9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GP1BA	(0.63)	DDIT3

Citations in the biomedical literature:

Bernard-Soulier syndrome		Myxoid/round cell liposarcoma
	Synonym(s): - Giant platelet syndrome - Hemorrhagiparous thrombocytic dystrophy		Synonym(s): - MRCLS

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare oncologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

	External references: 2 OMIM references - 1 MeSH reference: D001606		External references: 1 OMIM reference - 1 MeSH reference: D018208

Myxoid/round cell liposarcoma
	Very frequent - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Acute abdominal pain / colic - Intestinal transit disorder
Bernard-Soulier syndrome
(no data available)