DisGeNET - a database of gene-disease associations

BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

Disease-causing missense mutations in human DNA helicase disorders.

23276657

2015

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

Multimeric BLM is dissociated upon ATP hydrolysis and functions as monomers in resolving DNA structures.

22885301

2012

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function.

22582397

2012

dbSNP:

rs137853153

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

19888064

2009

dbSNP:

rs367543029

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

19888064

2009

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

19888064

2009

dbSNP:

rs137853153

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

Carrier screening in individuals of Ashkenazi Jewish descent.

18197057

2008

dbSNP:

rs367543029

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

Carrier screening in individuals of Ashkenazi Jewish descent.

18197057

2008

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

Carrier screening in individuals of Ashkenazi Jewish descent.

18197057

2008

dbSNP:

rs367543029

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

CausalMutation

CLINVAR

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

17407155

2007

dbSNP:

rs367543029

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

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

17407155

2007

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

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

17407155

2007

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.

17878217

2007

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure.

15579905

2005

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.

12444098

2002

dbSNP:

rs137853153

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.

10862105

2000

dbSNP:

rs367543029

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.

10862105

2000

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

Elevation of sister chromatid exchange in Saccharomyces cerevisiae sgs1 disruptants and the relevance of the disruptants as a system to evaluate mutations in Bloom's syndrome gene.

10812332

2000

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.

10965492

2000

dbSNP:

rs367543029

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

CausalMutation

CLINVAR

The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.

10069810

1999

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.

10069810

1999

dbSNP:

rs367543029

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

CausalMutation

CLINVAR

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

9837821

1998

dbSNP:

rs367543029

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.

9840919

1998

dbSNP:

rs747281324

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

CLINVAR

Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.

9840919

1998

dbSNP:

rs137853153

Entrez Id:	641
Gene Symbol:	BLM

BLM

CUI:	C0005859
Disease:

Bloom Syndrome

0.800

GeneticVariation

UNIPROT

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.

9285778

1997