DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Moyamoya disease 1 ×

Gene: PTPN11 ×

Results per page

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:	C2931384
Disease:	Moyamoya disease 1

Moyamoya disease 1

0.010

GeneticVariation

BEFREE

The association between moyamoya disease and Noonan syndrome carrying a PTPN11 mutation has recently been reported.

2015