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GENE - TERM ANNOTATION REPORT

RGD ID: 1346044
Species: Homo sapiens
RGD Object: Gene
Symbol: TCEAL3
Name: transcription elongation factor A like 3
Acc ID: DOID:0110773
Term: hereditary spastic paraplegia 2
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8012387 "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)
TCEAL3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegia 2PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 PMID:9634530
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