WormBase Tree Display for Disease_model_annotation: WBDOannot00001170
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| WBDOannot00001170 | Disease_term | DOID:0080690 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Genotype | WBGenotype00000110 | |
| Asserted_human_gene | HGNC:6871 | ||
| Association_type | is_model_of | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Modifier_association_type | condition_ameliorated_by | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00061535 | ||
| Disease_model_description | Enhanced MAPK1 function in humans (p.Asp318Gly change) causes a neurodevelopmental disorder within the RASopathy clinical spectrum; a transgenic C. elegans line over expressing the disease causing mutant human MAPK1 (p.Asp318Gly) displayed a Multivulva (Muv) phenotype. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 25 Apr 2022 00:00:00 |
