WormBase Tree Display for Disease_model_annotation: WBDOannot00001195
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| WBDOannot00001195 | Disease_term | DOID:0050777 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Variation | WBVar00251337 | |
| Asserted_gene | WBGene00021416 | ||
| Association_type | is_implicated_in | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00060708 | ||
| Disease_model_description | The human gene B9D2, part of the B9 complex, is linked to ciliopathies such as Joubert (JBTS) and Meckel syndromes; the mksr-2(oq13) mutation models the B9D2[P74S] missense allele found in patients, and disrupts ciliary structure, positioning and function in worms. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 17 May 2022 00:00:00 |
