DisGeNET - a database of gene-disease associations

Sjogren's Syndrome, C1527336

Variant: rs1085308048 ×

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:

rs1085308048

rs1085308048

PTEN

0.010

GeneticVariation

BEFREE

This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.

1998