GlyCosmos Portal

Noonan syndrome 1

Synonym

Definition

A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.

Super Class

Noonan syndrome autosomal dominant disease

Disease Ontology

DOID:0060578

Mondo Disease Ontology

OMIM

MGI genotype (from TogoID)

Related Genes

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Gene ID	Gene Symbol	Description	Source
1605	DAG1	dystroglycan 1	DisGeNET
1634	DCN	decorin	DisGeNET
2348	FOLR1	folate receptor alpha	DisGeNET
2597	GAPDH	glyceraldehyde-3-phosphate dehydrogenase	DisGeNET
2632	GBE1	1,4-alpha-glucan branching enzyme 1	DisGeNET
2653	GCSH	glycine cleavage system protein H	DisGeNET
2720	GLB1	galactosidase beta 1	DisGeNET
2731	GLDC	glycine decarboxylase	DisGeNET
2821	GPI	glucose-6-phosphate isomerase	DisGeNET
3339	HSPG2	heparan sulfate proteoglycan 2	DisGeNET

Related Glycoprotein

Displaying entries **11 - 20** of 27 in total

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UniProt ID	Protein Name	Source
P15289	Arylsulfatase A	DisGeNET
P15328	Folate receptor alpha	DisGeNET
P16278	Beta-galactosidase	DisGeNET
P22303	Acetylcholinesterase	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