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FLASH GENE

Symbol

SMAD9

contributors: mct/npt - updated : 31-08-2016

HGNC name	SMAD family member 9
HGNC id	6774

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to pulmonary arterial hypertension to hamartomatous polyposis in the colon

Variant & Polymorphism other	c.606 C>A, p.C202X associated with pulmonary arterial hypertension
	germline heterozygous mutation in SMAD9 (SMAD9(V90M)) associated with hamartomatous polyposis in the colon

Candidate gene	DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC (Kang 2008)
Marker
Therapy target

ANIMAL & CELL MODELS