GlyCosmos Portal

Noonan syndrome 6

Synonym

Definition

A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.

Super Class

Noonan syndrome autosomal dominant disease

Disease Ontology

DOID:0060584

Mondo Disease Ontology

MeSH

OMIM

Related Genes

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Gene ID	Gene Symbol	Description	Source
11285	B4GALT7	beta-1,4-galactosyltransferase 7	DisGeNET
56994	CHPT1	choline phosphotransferase 1	DisGeNET
64132	XYLT2	xylosyltransferase 2	DisGeNET
79623	GALNT14	polypeptide N-acetylgalactosaminyltransferase 14	DisGeNET
79947	DHDDS	dehydrodolichyl diphosphate synthase subunit	DisGeNET

Related Glycoprotein

Displaying entries **11 - 20** of 25 in total

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UniProt ID	Protein Name	Source
P15289	Arylsulfatase A	DisGeNET
P15328	Folate receptor alpha	DisGeNET
P16278	Beta-galactosidase	DisGeNET
P23434	Glycine cleavage system H protein, mitochondrial	DisGeNET
P42338	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	DisGeNET DisGeNET
P48736	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	DisGeNET DisGeNET
P51689	Arylsulfatase D	DisGeNET DisGeNET
P60484	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	DisGeNET
P98160	Basement membrane-specific heparan sulfate proteoglycan core protein	DisGeNET
Q14118	Dystroglycan 1	DisGeNET