BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Bloom Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. 26340805 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE From 1965 on over the next 30 years, he and his coworkers systematically studied Bloom's syndrome in depth, cumulating in the identification in 1995 of the BLM gene as encoding a DNA helicase. 27016306 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 26556299 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. 26788541 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. 26546047 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE We constructed a transgenic mouse line expressing human BLM (BLM-Tg) and crossed it onto both backgrounds. 25908507 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. 25182961 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. 26247052 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Uncovering the genomic heterogeneity of multifocal breast cancer. 25850943 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Germ-line mutations in the BLM gene causes Bloom syndrome, a rare disorder characterized by premature aging and predisposition to multiple cancers, including breast cancer. 25673821 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR Disease-causing missense mutations in human DNA helicase disorders. 23276657 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Bloom's syndrome causing missense mutations are found in the conserved helicase and RecQ C-terminal domain of BLM that interfere with helicase function. 23276657 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE The Bloom syndrome helicase BLM and topoisomerase-IIβ-binding protein 1 (TopBP1) are key regulators of genome stability. 25794620 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. 26247052 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE BLM linkage performed by microsatellite genotyping revealed homozygous haplotypes for the BS patients, evidence of linkage to BLM gene. 24118499 2014
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Additionally, the direct BLM gene sequencing identified a novel homozygous frameshift mutation c.3617-3619delAA (p.K1207fsX9) in BS patients and a heterozygous BLM mutation in the family members with higher SCE frequency. 25129257 2014
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 AlteredExpression disease BEFREE BLM binds to G-quadruplex (G4) DNA, and G4 motifs were enriched at transcription start sites (TSS) and especially within first introns (false discovery rate ≤ 0.001) of differentially expressed mRNAs in Bloom syndrome compared with normal cells, suggesting that G-quadruplex structures formed at these motifs are physiologic targets for BLM. 24958861 2014
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499 2014
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Bloom syndrome is an autosomal recessive disorder caused by mutations in the RecQ family helicase BLM that is associated with growth retardation and predisposition to cancer. 25418155 2014
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Biallelic mutations in BLM cause Bloom syndrome (BS), a genome instability disorder characterized by growth retardation, sun sensitivity and a predisposition to cancer. 25766002 2014