DisGeNET - a database of gene-disease associations

Juvenile polyposis syndrome, C0345893

Variant: rs1568211187 ×

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:

rs1568211187

SMAD4

0.700

CausalMutation

CLINVAR

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

22243968

2012

dbSNP:

rs1568211187

SMAD4

0.700

CausalMutation

CLINVAR

FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination.

19135894

2009

dbSNP:

rs1568211187

SMAD4

0.700

CausalMutation

CLINVAR

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

15031030

2004

dbSNP:

rs1568211187

SMAD4

0.700

CausalMutation

CLINVAR

Role of Smad4 (DPC4) inactivation in human cancer.

12821112

2003

dbSNP:

rs1568211187

SMAD4

0.700

CausalMutation

CLINVAR

Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes.

9389648

1997