DisGeNET - a database of gene-disease associations

Juvenile polyposis syndrome, C0345893

Variant: rs377767347 ×

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:

rs377767347

SMAD4

0.700

CausalMutation

CLINVAR

Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.

27595937

2016

dbSNP:

rs377767347

SMAD4

0.700

CausalMutation

CLINVAR

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

20101697

2010

dbSNP:

rs377767347

SMAD4

0.700

CausalMutation

CLINVAR

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

17873119

2007

dbSNP:

rs377767347

SMAD4

0.700

CausalMutation

CLINVAR

SMAD4 mutations found in unselected HHT patients.

16613914

2006

dbSNP:

rs377767347

SMAD4

0.700

CausalMutation

CLINVAR

Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors.

15014009

2004

dbSNP:

rs377767347

SMAD4

0.700

CausalMutation

CLINVAR

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.

10764709

2000

dbSNP:

rs377767347

SMAD4

0.700

CausalMutation

CLINVAR

Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.

10797267

2000

dbSNP:

rs377767347

SMAD4

0.700

CausalMutation

CLINVAR

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

9811934

1998