DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hamartoma Syndrome, Multiple ×

Variant: rs1064793243 ×

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:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome.

29043291

2017

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

25527629

2015

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

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

23399955

2013

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

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

20712882

2010

dbSNP:

rs1064793243

PTEN

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

Hamartoma Syndrome, Multiple

0.700

CausalMutation

CLINVAR

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

17526801

2007