Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide. 29439820

2018
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Immunodeficiency in Bloom's Syndrome. 29098565

2018
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697

2017
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis. 28611551

2017
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing. 27175728

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR Regulation of BLM Nucleolar Localization. 27657136

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. 26340805

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 26556299

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. 26788541

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. 26546047

2016
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. 25182961

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. 26247052

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Uncovering the genomic heterogeneity of multifocal breast cancer. 25850943

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR Disease-causing missense mutations in human DNA helicase disorders. 23276657

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. 26247052

2015
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499

2014
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation CLINVAR A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members. 25129257

2014
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792

2014
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation CLINVAR The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population. 25399228

2014