DisGeNET - a database of gene-disease associations

PTEN Hamartoma Tumor Syndrome, C1959582

Variant: rs371387815 ×

Source: CURATED ×

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:

rs371387815

rs371387815

PTEN

T

0.700

CausalMutation

CLINVAR

Cognitive characteristics of PTEN hamartoma tumor syndromes.

2013

dbSNP:

rs371387815

rs371387815

PTEN

T

0.700

CausalMutation

CLINVAR

Lung disease in FLNA mutation: confirmatory report.

2011