DisGeNET - a database of gene-disease associations

Juvenile polyposis syndrome, C0345893

Variant: rs281875324 ×

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:

rs281875324

SMAD4

0.800

GeneticVariation

UNIPROT

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

12417513

2002

dbSNP:

rs281875324

SMAD4

0.800

GeneticVariation

UNIPROT

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

9811934

1998

dbSNP:

rs281875324

SMAD4

0.800

CausalMutation

CLINVAR