WormBase Tree Display for Disease_model_annotation: WBDOannot00000367
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| WBDOannot00000367 | Disease_term | DOID:12583 | |||
|---|---|---|---|---|---|
| Disease_of_species | Homo sapiens | ||||
| Modeled_by | Disease_relevant_gene | WBGene00006733 | |||
| Association_type | is_implicated_in | ||||
| Evidence_code | GO_code | IMP | |||
| ECO_term | ECO:0007013 | ||||
| Genetic_sex | hermaphrodite | ||||
| Paper_evidence | WBPaper00047004 | ||||
| Disease_model_description | 22q11.2 deletion syndrome (22q11.2DS) is the most common human deletion syndrome caused by deletion of a small piece of chromosome 22, characterized by neurodevelopmental defects, schizophrenia, congenital cardiac and craniofacial abnormalites (includes DiGeorge Syndrome and velocardiofacial syndrome); the 22q11.2 deletion overlaps several protein-coding genes including UFD1L (ubiquitin fusion degradation 1 like (yeast)); C. elegans ufd-1 is involved in ER-associated protein degradation and DNA replication and knock-down phenotypes include slow growth, defects in gonad development and locomotion, enlarged gut granules, cell cycle progression defects and reduced life span; ufd-1 provides a potential model system to study genes involved in 22q11.2DS. | ||||
| DB_info | Database | OMIM | gene | 601754 | |
| Curator_confirmed | WBPerson324 | ||||
| Date_last_updated | 13 Sep 2017 00:00:00 |
