CRBN, cereblon, 51185

N. diseases: 130; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation, Autosomal Recessive 2
0.910 Biomarker disease BEFREE In subgroup analysis restricted to ≤ mrT2/≤ ypT2 and ≤ pT2 tumors (omitting > mrT2 tumors), the effect of nCRT on recurrence no longer varied over time, indicating that tumor heterogeneity was responsible for the observed increased recurrence hazards ≤ 1 year postsurgery; That is, > mrT2 tumors that were downstaged to ≤ ypT2 after nCRT were responsible for the time-varying effects of nCRT and increased recurrence hazards ≤ 1 year postsurgery. 31773520 2019
Mental Retardation, Autosomal Recessive 2
0.910 Biomarker disease MGD Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway. 29459374 2018
Mental Retardation, Autosomal Recessive 2
0.910 GeneticVariation disease UNIPROT A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. 28143899 2017
Mental Retardation, Autosomal Recessive 2
0.910 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Mental Retardation, Autosomal Recessive 2
0.910 Biomarker disease MGD Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability. 21995942 2012
Mental Retardation, Autosomal Recessive 2
0.910 Biomarker disease GENOMICS_ENGLAND Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. 18414909 2008
Mental Retardation, Autosomal Recessive 2
0.910 Biomarker disease GENOMICS_ENGLAND Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. 18414909 2008
Mental Retardation, Autosomal Recessive 2
0.910 GeneticVariation disease UNIPROT A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. 15557513 2004
Mental Retardation, Autosomal Recessive 2
0.910 CausalMutation disease CLINVAR
Mental Retardation, Autosomal Recessive 2
0.910 Biomarker disease CTD_human
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE Here, we show that TC11 does not induce degradation of CRBN's substrates, IKZF1/3 and CK1α, and induces apoptosis of CRBN-silenced MM; this effect was independent of the cereblon (CRBN) pathway, which is involved in the mechanism of action of IMiDs used for the treatment of MM. 31653349 2020
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 GeneticVariation disease BEFREE It is suggested that selected germline CRBN allelic variants (rs1714327G > C and rs1705814T > C) affect lenalidomide efficacy in patients with relapsed/refractory MM. 31746254 2020
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE Taken together, our results, in conjunction with recently published findings, provide a rationale for investigating the efficacy of ARV 825 for MM, use of cereblon as a biomarker for therapy of MM patients, and the combination of ARV 825 with small molecule inhibitors to improve the outcome of MM patients. 30606790 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE We also demonstrated that treatment with a pan-PIM kinase inhibitor resulted in increased expression of cereblon, and that knockdown of cereblon via a shRNA lentivirus abolished the effects of PIM kinase inhibition on the degradation of IKZF1 and IKZF3 and myeloma cell apoptosis, demonstrating a central role of cereblon in pan-PIM kinase inhibitor-mediated down-regulation of IKZF1 and IKZF3 and myeloma cell killing. 30312729 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 AlteredExpression disease BEFREE Emerging evidence suggests that IMiDs can block MEIS2 from binding to CRBN facilitating the subsequent activation of a <sup>CRL4</sup>CRBN<sup>IMiD</sup>-E3-ubiquitin ligase activity and proteasome-mediated degradation of critical substrates regulators of Multiple Myeloma (MM) cell survival and proliferation. 30975979 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE Immunomodulatory drugs (IMiDs) including lenalidomide and pomalidomide bind cereblon (CRBN) and activate the CRL4<sup>CRBN</sup> ubiquitin ligase to trigger proteasomal degradation of the essential transcription factors IKZF1 and IKZF3 and multiple myeloma (MM) cytotoxicity. 30026574 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE Selected CRBN SNPs may be useful in assessing the probability of AEs in the form of peripheral polyneuropathy and gastrointestinal motility disorders associated with the use of thalidomide in patients with MM. 31115923 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE The description of their cereblon-mediated mechanism of action was a hallmark in MM research. 30696815 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE We herein report our new generation of multifunctional HDAC6 degraders by tethering selective HDAC6 inhibitor Nexturastat A with CRBN ligand that can synergize with HDAC6 degradation for the antiproliferation of multiple myeloma (MM). 31271281 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE Notably, targeting CRL4 has recently emerged as a noval anti-cancer strategy, including thalidomide and its derivatives that bind to the substrate recognition receptor cereblon (CRBN), and anticancer sulfonamides that target DCAF15 to suppress the neoplastic proliferation of multiple myeloma and colorectal cancers, respectively. 30602127 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 AlteredExpression disease BEFREE This strategy also appeared to be more broadly applicable as SGC-CBP30 could re-sensitize two resistant HMCLs with low but detectable CRBN expression to lenalidomide, suggesting that targeting CBP/E300 is a promising approach to restore IMiD sensitivity in MM with detectable CRBN expression. 30741931 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE Thus, our data argue against the use of CRBN and its downstream targets as predictive biomarkers of IMiD response in MM and confirm clonal evolution patterns during lenalidomide resistance. 29718735 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE These results indicate that the Cereblon-mediated immunomodulatory properties of lenalidomide are maintained in lenalidomide-refractory MM patients and may contribute to immune-mediated killing of MM cells. 30338042 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 AlteredExpression disease BEFREE Recently, high expression levels of cereblon (CRBN) and MUM1 have been associated with better response rates in multiple myeloma treated with lenalidomide. 28833354 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE More broadly, these findings establish key proteins required for lenalidomide-dependent CRL4<sup>CRBN</sup> function in myeloma and inform potential mechanisms of drug resistance. 30042095 2018