DisGeNET - a database of gene-disease associations

TUMOR PREDISPOSITION SYNDROME, C3280492

Variant: rs387906848 ×

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:

rs387906848

BAP1

0.700

CausalMutation

CLINVAR

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.

24243779

2014

dbSNP:

rs387906848

BAP1

0.700

CausalMutation

CLINVAR

Germline BAP1 mutations predispose to malignant mesothelioma.

21874000

2011

dbSNP:

rs387906848

BAP1

0.700

CausalMutation

CLINVAR

BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization.

18757409

2008