DisGeNET - a database of gene-disease associations

Hamartoma Syndrome, Multiple, C0018553

Variant: rs587782350 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Germline PTEN mutations in Cowden syndrome-like families.

9832031

1998

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.

9600246

1998

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

9140396

1997

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

9241266

1997

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.

9345101

1997

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

9399897

1997

dbSNP:

rs587782350

PTEN

0.810

GeneticVariation

UNIPROT

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

9259288

1997

dbSNP:

rs587782350

PTEN

0.810

CausalMutation

CLINVAR