Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.910 | GeneticVariation | disease | UNIPROT | A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. | 15557513 | 2004 | ||||
|
0.910 | GeneticVariation | disease | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 | ||||
|
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 | ||||
|
0.910 | Biomarker | disease | MGD | Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability. | 21995942 | 2012 | ||||
|
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 | ||||
|
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 | ||||
|
0.910 | Biomarker | disease | CTD_human | |||||||
|
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 | ||||
|
0.910 | CausalMutation | disease | CLINVAR |