DisGeNET - a database of gene-disease associations

Peutz-Jeghers Syndrome, C0031269

Variant: rs886039554 ×

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:

rs886039554

STK11

0.700

CausalMutation

CLINVAR

High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

21118512

2010

dbSNP:

rs886039554

STK11

0.700

CausalMutation

CLINVAR

Cancer risks in LKB1 germline mutation carriers.

16407375

2006

dbSNP:

rs886039554

STK11

0.700

CausalMutation

CLINVAR

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

16287113

2005

dbSNP:

rs886039554

STK11

0.700

CausalMutation

CLINVAR

Relative frequency and morphology of cancers in STK11 mutation carriers.

15188174

2004