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GENE - TERM ANNOTATION REPORT

RGD ID: 1311431
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aldh18a1
Name: aldehyde dehydrogenase 18 family, member A1
Acc ID: DOID:0110824
Term: hereditary spastic paraplegia 9A
Definition: A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26026163 "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)
Aldh18a1 ISOALDH18A1 (Homo sapiens)11056004RGDDNA:mutations:cds:p.V243L, p.R252Q(human) 
Aldh18a1 ISOALDH18A1 (Homo sapiens)7240710OMIM  
Aldh18a1 ISOALDH18A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Aldh18a1 ISOALDH18A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUXPMID:21739576 PMID:24913064 PMID:25741868 PMID:26026163 PMID:26297558 PMID:26320891 PMID:28492532 PMID:28567303 PMID:28604674 PMID:29915212 PMID:37119015 PMID:8779323 PMID:9643297 PMID:9973297
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