BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
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 GeneticVariation disease BEFREE A previously reported homozygous damaging variant in BLM is predicted to cause Bloom syndrome in 1 case and 1 case was homozygous for a damaging variant in MCPH1, a result of uncertain significance. 31112269 2020
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE These results demonstrate the conserved role of BLM in maintaining the genome while reinforcing the applicability of using Drosophila as a model system to study Bloom Syndrome. 31772289 2019
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE The Saccharomyces cerevisiae RecQ helicase Sgs1 is orthologous to human BLM, defects in which cause the cancer-prone Bloom's Syndrome. 30916344 2019
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE BLM RecQ-like helicase is essential for genome integrity and is deficient in Bloom syndrome (BS), a rare genetic disease characterized by genome instability, accumulation of micronuclei, susceptibility to cancer, and immunodeficiency. 30936263 2019
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 AlteredExpression disease BEFREE LOHs were generated by the combination of allele-specific double-stranded DNA breaks introduced by CRISPR/Cas9 and suppression of Bloom syndrome (BLM) gene expression by the Tet-Off system. 31805151 2019
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 AlteredExpression disease BEFREE The high expression of BLM (Bloom syndrome) helicase in tumors involves its strong association with cell expansion. 31660888 2019
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the BLM gene encoding the DNA helicase BLM leads to a rare chromosomal instability disorder known as Bloom's syndrome. 30209988 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Whole Exome Sequencing demonstrated that she had Bloom syndrome caused by a compound heterozygous mutation in BLM (c.2207_2212delinsTAGATTC; p.(Tyr736Leufs*5) and c.3681del; p.(Lys1227Asnfs*52)). 29056561 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in BLM helicase predispose Bloom syndrome (BS) patients to a wide spectrum of cancers. 30044990 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE An additional 2 cancers were identified in a woman with a diagnosis of Bloom syndrome (BLM mutation) who was not germline tested. 29958926 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in BLM in Bloom Syndrome patients predispose them to multiple types of cancers. 29523790 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE Mutational inactivation of Werner (WRN) and Bloom (BLM) genes results in Werner syndrome (WS) and Bloom syndrome (BS) respectively. 29080750 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide. 29439820 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Immunodeficiency in Bloom's Syndrome. 29098565 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE Real-Time PCR was carried out on lung tissue of mice either BLM (BLM-tm) or physiological solution-treated (PSS-tm), and in primary lung fibroblasts, isolated from healthy C57BL/6 mice. 28526615 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE Cells from Bloom's syndrome patients display genome instability due to a defective BLM and the downregulation of cytidine deaminase. 28947735 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in human BLM helicase give rise to the autosomal recessive Bloom syndrome, which shows high predisposition to types of malignant tumours. 28338731 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 CausalMutation disease 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
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE Analysis of BLM in Bloom's syndrome fibroblasts or by depletion of BLM from human cancer cells confirms a role for Sgs1/BLM in suppressing R-loop-associated genome instability across species. 29042409 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome. 27977684 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing. 27175728 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR Regulation of BLM Nucleolar Localization. 27657136 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891 2016