DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Gene: PTEN ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057517809

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057517809

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519368

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060500115

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060500122

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

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:

rs1060500122

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

21194675

2011

dbSNP:

rs1064793243

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs1064793243

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

20712882

2010

dbSNP:

rs1064793243

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

17526801

2007

dbSNP:

rs1064794096

PTEN ; KLLN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.

25875300

2015

dbSNP:

rs1064794096

PTEN ; KLLN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

24375884

2014

dbSNP:

rs1064794096

PTEN ; KLLN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

21659347

2011

dbSNP:

rs1064794096

PTEN ; KLLN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Frequency of germline PTEN mutations in differentiated thyroid cancer.

21417916

2011

dbSNP:

rs1064794096

PTEN ; KLLN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.

17942903

2007

dbSNP:

rs1064796078

PTEN ; KLLN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

24778394

2014

dbSNP:

rs1085308041

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

27477328

2017

dbSNP:

rs1085308041

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

21659347

2011

dbSNP:

rs1085308041

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.

19968660

2010

dbSNP:

rs1085308041

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

19265751

2009

dbSNP:

rs1085308056

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

23335809

2013

dbSNP:

rs1085308056

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

19265751

2009

dbSNP:

rs1114167621

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

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:

rs1114167621

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.

11071384

2000

dbSNP:

rs1114167621

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1114167621

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR