DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs876660634 ×

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:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

29296277

2017

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.

28523199

2017

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Tailor-Made Protein Tyrosine Phosphatases: In Vitro Site-Directed Mutagenesis of PTEN and PTPRZ-B.

27514801

2016

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Cowden's syndrome with immunodeficiency.

26246517

2015

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Cowden's syndrome with immunodeficiency.

26246517

2015

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

24778394

2014

dbSNP:

rs876660634

PTEN

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:

rs876660634

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:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

20926450

2011

dbSNP:

rs876660634

PTEN

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:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

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:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

19457929

2009

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

19457929

2009

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.

16704655

2006

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.

16704655

2006

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.

10555148

1999

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

9467011

1998

dbSNP:

rs876660634

PTEN

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

9288766

1997