Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | Stefin B (cystatin B) is an intracellular inhibitor of cysteine cathepsins and mutations in the stefin B gene, resulting in the development of Unverricht-Lundborg disease, which is a form of myoclonic epilepsy. | 31766320 | 2019 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy. | 16379547 | 2005 | ||||
|
0.080 | Biomarker | disease | BEFREE | Myoclonus epilepsy of type 1 (EPM1) is a rare monogenic progressive and degenerative epilepsy, also known under the name Unverricht-Lundborg disease. | 16155205 | 2005 | ||||
|
0.080 | Biomarker | disease | BEFREE | CSTB-deficient mice, produced by targeted disruption of the mouse Cstb gene, display a phenotype similar to the human disease, with progressive ataxia and myoclonic seizures. | 12853462 | 2003 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg. | 14517952 | 2003 | ||||
|
0.080 | Biomarker | disease | BEFREE | CSTB homozygous knockout mice show some parallels to the phenotype of human EPM1 including myoclonic seizures, development of ataxia and neuropathological changes associated with cell loss via apoptosis. | 14526183 | 2003 | ||||
|
0.080 | Biomarker | disease | BEFREE | We found that mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen in the human disease. | 9806543 | 1998 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | The still-unknown relationship between the pathologic level of ASA activity and myoclonic epilepsies suggests introduction of ASA assays in patients with PME. | 7908874 | 1994 |