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 		0.040 GeneticVariation disease BEFREE (2017) show that a single BRCT domain in TopBP1 binds tightly and specifically to phosphorylated Bloom syndrome helicase (BLM). 28978405 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 Biomarker disease BEFREE It was proposed that TopBP1 BRCT5 interacts with Bloom syndrome helicase (BLM) to regulate genome stability through either phospho-Ser304 or phospho-Ser338 of BLM. 28919440 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 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 		0.040 Biomarker disease BEFREE In this study, we report a specific interaction between TopBP1 and Bloom syndrome helicase (BLM) that is phosphorylation and cell-cycle dependent. 24239288 2013