DisGeNET - a database of gene-disease associations

Lhermitte-Duclos disease, C0391826

Variant: rs121909232 ×

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:

rs121909232

PTEN

0.700

CausalMutation

CLINVAR

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

24778394

2014

dbSNP:

rs121909232

PTEN

0.700

CausalMutation

CLINVAR

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

21659347

2011

dbSNP:

rs121909232

PTEN

0.700

CausalMutation

CLINVAR

Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.

16007494

2005

dbSNP:

rs121909232

PTEN

0.700

CausalMutation

CLINVAR

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

11476841

2001

dbSNP:

rs121909232

PTEN

0.700

CausalMutation

CLINVAR

Appendectomy, tonsillectomy, and neoplasia.

1097835

1975