DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs1554088762 ×

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:

rs1554088762

APC

0.700

CausalMutation

CLINVAR

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

27081525

2015

dbSNP:

rs1554088762

APC

0.700

CausalMutation

CLINVAR

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

22135120

2011

dbSNP:

rs1554088762

APC

0.700

CausalMutation

CLINVAR

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

9824584

1998

dbSNP:

rs1554088762

APC

0.700

CausalMutation

CLINVAR

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

8381579

1993

dbSNP:

rs1554088762

APC

0.700

CausalMutation

CLINVAR

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

1316610

1992