DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Multiple pterygium syndrome ×

Gene: PTPN11 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0265261
Disease:	Multiple pterygium syndrome

Multiple pterygium syndrome

0.200

Biomarker

MGD

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

2004