DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Blepharoptosis ×

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:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

GeneticVariation

BEFREE

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

27521173

2016

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

CausalMutation

CLINVAR

Genotype differences in cognitive functioning in Noonan syndrome.

19077116

2009

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

CausalMutation

CLINVAR

Noonan syndrome and related disorders: genetics and pathogenesis.

16124853

2005

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

CausalMutation

CLINVAR

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

12960218

2003

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

CausalMutation

CLINVAR

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

11992261

2002

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

Biomarker

HPO