DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Ptosis ×

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:	C0033377
Disease:	Ptosis

Ptosis

0.110

GeneticVariation

BEFREE

Patients with severe ptosis and nearly total absence of levator muscle function had PTPN11 mutations.

2016

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO