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WormBase Tree Display for Disease_model_annotation: WBDOannot00001104

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Name Class

WBDOannot00001104Disease_termDOID:0081048
Disease_of_speciesHomo sapiens
Modeled_byGenotypeWBGenotype00000091
Association_typeis_implicated_in
Evidence_codeGO_codeIMP
ECO_termECO:0007013
Genetic_sexhermaphrodite
Paper_evidenceWBPaper00046648
Disease_model_descriptionHuman 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_confirmedWBPerson324
Date_last_updated09 Feb 2022 00:00:00