DisGeNET - a database of gene-disease associations

Peutz-Jeghers Syndrome, C0031269

Variant: rs1568710381 ×

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:

rs1568710381

STK11

0.700

CausalMutation

CLINVAR

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

28185117

2017

dbSNP:

rs1568710381

STK11

0.700

CausalMutation

CLINVAR

STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.

24652667

2014

dbSNP:

rs1568710381

STK11

0.700

CausalMutation

CLINVAR

[Mutation analysis of STK11 gene coding region for 20 Chinese patients with Peutz-Jeghers syndrome].

22543132

2012

dbSNP:

rs1568710381

STK11

0.700

CausalMutation

CLINVAR

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

16287113

2005

dbSNP:

rs1568710381

STK11

0.700

CausalMutation

CLINVAR

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.

10408777

1999