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GENE - TERM ANNOTATION REPORT

RGD ID: 1308570
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Atad1
Name: ATPase family, AAA domain containing 1
Acc ID: DOID:0080581
Term: hyperekplexia 4
Definition: A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/29390050 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Atad1 ISOATAD1 (Homo sapiens)7240710OMIM  
Atad1 ISOATAD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperekplexia 4PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 PMID:33134516
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