DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs180177127 ×

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:

rs180177127

PALB2

0.700

CausalMutation

CLINVAR

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

26283626

2015

dbSNP:

rs180177127

PALB2

0.700

CausalMutation

CLINVAR

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

23448497

2013

dbSNP:

rs180177127

PALB2

0.700

CausalMutation

CLINVAR

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

17200668

2007