DisGeNET - a database of gene-disease associations

COWDEN SYNDROME 5, C3554518

The Variant filter does not apply in GDA tabs

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

0.700

GeneticVariation

disease

UNIPROT

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

2013

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

0.700

Biomarker

disease

GENOMICS_ENGLAND

Mutation of the PIK3CA gene in anaplastic thyroid cancer.

2005

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

0.700

Biomarker

disease

CTD_human

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

0.700

CausalMutation

disease

CLINVAR