DisGeNET - a database of gene-disease associations

Source: ALL

Disease: COWDEN SYNDROME 6 ×

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:	207
Gene Symbol:	AKT1

AKT1

CUI:	C3554519
Disease:	COWDEN SYNDROME 6

COWDEN SYNDROME 6

0.700

Biomarker

GENOMICS_ENGLAND

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

2013

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

CUI:	C3554519
Disease:	COWDEN SYNDROME 6

COWDEN SYNDROME 6

0.700

GeneticVariation

UNIPROT

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

2013

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

CUI:	C3554519
Disease:	COWDEN SYNDROME 6

COWDEN SYNDROME 6

0.700

CausalMutation

CLINVAR

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

CUI:	C3554519
Disease:	COWDEN SYNDROME 6

COWDEN SYNDROME 6

0.700

Biomarker

CTD_human