WormBase Tree Display for Disease_model_annotation: WBDOannot00001100
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| WBDOannot00001100 | Disease_term | DOID:0112202 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Variation | WBVar02153814 | |
| Asserted_gene | WBGene00001648 | ||
| Association_type | is_implicated_in | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00062031 | ||
| Disease_model_description | Variants in human GNAO1 (alpha-subunit of a heterotrimeric guanine nucleotide-binding protein, which is highly expressed in the mammalian brain) are implicated in a complex constellation of infantile/childhood-onset severe neurological disorders; the gao-1(knu751) mutant in C. elegans carries the c.662C>A (p.A221D) change equivalent to a human pathogenic variant. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 04 Feb 2022 00:00:00 |
