DisGeNET - a database of gene-disease associations

PTEN Hamartoma Tumor Syndrome, C1959582

Variant: rs146650273 ×

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:

rs146650273

PTEN

0.700

CausalMutation

CLINVAR

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

26362251

2015

dbSNP:

rs146650273

PTEN

0.700

CausalMutation

CLINVAR

PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.

24102544

2014

dbSNP:

rs146650273

PTEN

0.700

CausalMutation

CLINVAR

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

23335809

2013

dbSNP:

rs146650273

PTEN

0.700

CausalMutation

CLINVAR

Cognitive characteristics of PTEN hamartoma tumor syndromes.

23470840

2013

dbSNP:

rs146650273

PTEN

0.700

CausalMutation

CLINVAR

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

10400993

1999

dbSNP:

rs146650273

PTEN

0.700

CausalMutation

CLINVAR

Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.

9288766

1997