WormBase Tree Display for Disease_model_annotation: WBDOannot00000813
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| WBDOannot00000813 | Disease_term | DOID:0050709 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Variation | WBVar00094386 | |
| Asserted_gene | WBGene00020184 | ||
| Association_type | is_implicated_in | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Experimental_condition | Inducing_chemical | WBMol:00003650 | |
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00050013 | ||
| Disease_model_description | Human UBA5 encodes the E1-activating enzyme of ubiquitin-fold modifier 1 (UFM1) and mutations in UBA5 are implicated in early-onset encephalopathies; in C. elegans uba-5(ok3364) mutant animals and Ufm1 cascade mutants displayed a significantly higher rate of pharynx grinder paralysis in the presence of aldicarb, compared to wild-type, pointing to a pathophysiological mechanism involving an increased amount of ACh in the neuromuscular junctions. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 27 Sep 2020 00:00:00 |
