DisGeNET - a database of gene-disease associations

Polyposis, Adenomatous Intestinal, C2713442

Variant: rs755046558 ×

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:

rs755046558

APC

0.700

CausalMutation

CLINVAR

Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.

27081525

2015

dbSNP:

rs755046558

APC

0.700

CausalMutation

CLINVAR

Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?

22135120

2011

dbSNP:

rs755046558

APC

0.700

CausalMutation

CLINVAR

Regulated binding of adenomatous polyposis coli protein to actin.

17293347

2007

dbSNP:

rs755046558

APC

0.700

CausalMutation

CLINVAR

EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration.

15311282

2004

dbSNP:

rs755046558

APC

0.700

CausalMutation

CLINVAR

A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.

11768389

2001

dbSNP:

rs755046558

APC

0.700

CausalMutation

CLINVAR

Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.

9824584

1998

dbSNP:

rs755046558

APC

0.700

CausalMutation

CLINVAR

Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

8381579

1993

dbSNP:

rs755046558

APC

0.700

CausalMutation

CLINVAR

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

1316610

1992