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XB-GENEPAGE-965637
epm2a epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Expression Phenotypes
Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.
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Computed annotations: epm2a assayed (1 source) |
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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Human (41 sources): Apraxia, Ataxia, Atonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Brain atrophy, Confusion, Cutaneous photosensitivity, Dementia, [+] |
Mouse (25 sources): Purkinje cell degeneration, abnormal DNA methylation, abnormal brain wave pattern, abnormal enzyme/coenzyme level, abnormal passive avoidance behavior, decreased grip strength, hippocampal neuron degeneration, impaired balance, improved glucose tolerance, increased CD8-positive, alpha-beta T cell number, [+] |
View all ortholog results at Monarch |