DisGeNET - a database of gene-disease associations

PTPN11, protein tyrosine phosphatase non-receptor type 11, 5781

N. diseases: 702; N. variants: 98

Disease: Bleeding tendency ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1458140
Disease:	Bleeding tendency

Bleeding tendency

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia.

2018

CUI:	C1458140
Disease:	Bleeding tendency

Bleeding tendency

0.400

Biomarker

phenotype

HPO