DisGeNET - a database of gene-disease associations

PTEN Hamartoma Tumor Syndrome, C1959582

Variant: rs121909224 ×

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:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

28655553

2018

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

29706350

2018

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Analysis of protein-coding genetic variation in 60,706 humans.

27535533

2016

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.

24345843

2014

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Cognitive characteristics of PTEN hamartoma tumor syndromes.

23470840

2013

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.

22266152

2012

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

21956414

2011

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

21828076

2011

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

16773562

2006

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.

10866302

2000

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

A novel PTEN mutation in a Japanese patient with Cowden disease.

10848731

2000

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

9467011

1998

dbSNP:

rs121909224

PTEN

0.700

CausalMutation

CLINVAR

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

9856571

1998

dbSNP: