WormBase Tree Display for Disease_model_annotation: WBDOannot00001104
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WBDOannot00001104 | Disease_term | DOID:0081048 | |
---|---|---|---|
Disease_of_species | Homo sapiens | ||
Modeled_by | Genotype | WBGenotype00000091 | |
Association_type | is_implicated_in | ||
Evidence_code | GO_code | IMP | |
ECO_term | ECO:0007013 | ||
Genetic_sex | hermaphrodite | ||
Paper_evidence | WBPaper00046648 | ||
Disease_model_description | Human NALCN is implicated in a clinical syndrome that includes intellectual disability, hypotonia, ataxia and arthrogryposis; mutations in elegans NALCN, nca-1 and nca-2, affect locomotion; the pan-neuronal expression of UNC-77 carrying the R1230Q mutation equivalent to a NACLN p.R1181Q mutation in a patient, turned wild-type worms into coilers. | ||
Curator_confirmed | WBPerson324 | ||
Date_last_updated | 09 Feb 2022 00:00:00 |