DisGeNET - a database of gene-disease associations

Juvenile polyposis syndrome, C0345893

Variant: rs1555687377 ×

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:

rs1555687377

SMAD4

0.700

GeneticVariation

CLINVAR

The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.

22810475

2012

dbSNP:

rs1555687377

SMAD4

0.700

GeneticVariation

CLINVAR

Mutation screening in juvenile polyposis syndrome.

16436638

2006

dbSNP:

rs1555687377

SMAD4

0.700

GeneticVariation

CLINVAR

Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.

16152648

2005