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GENE - TERM ANNOTATION REPORT

RGD ID: 61994
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ppt1
Name: palmitoyl-protein thioesterase 1
Acc ID: DOID:0050952
Term: spastic ataxia
Definition: A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24384335 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26344561 "DO" "DO", https://www.omim.org/entry/270550 "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)
Ppt1 ISOPPT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic ataxiaPMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 PMID:25741868 PMID:28492532 PMID:28878621
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