DisGeNET - a database of gene-disease associations

Adenomatous Polyposis Coli, C0032580

Variant: rs587783031 ×

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:

rs587783031

APC

0.700

CausalMutation

CLINVAR

Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.

21476993

2012

dbSNP:

rs587783031

APC

0.700

CausalMutation

CLINVAR

A survey of APC mutations in Quebec.

21779980

2011

dbSNP:

rs587783031

APC

0.700

CausalMutation

CLINVAR

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

20223039

2005

dbSNP:

rs587783031

APC

0.700

CausalMutation

CLINVAR

A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality.

15095859

2004