DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs373525781 ×

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:

rs373525781

BLM

0.700

CausalMutation

CLINVAR

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.

27533158

2016

dbSNP:

rs373525781

BLM

0.700

CausalMutation

CLINVAR

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

23928670

2013

dbSNP:

rs373525781

BLM

0.700

CausalMutation

CLINVAR

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

23028338

2012

dbSNP:

rs373525781

BLM

0.700

CausalMutation

CLINVAR

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

17407155

2007