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GENE - TERM ANNOTATION REPORT

RGD ID: 1351182
Species: Homo sapiens
RGD Object: Gene
Symbol: SPG21
Name: SPG21 abhydrolase domain containing, maspardin
Acc ID: DOID:0060245
Term: MAST syndrome
Definition: A hereditary spastic paraplegia associated with dementia. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/gene/SPG21 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/6024251 "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)
SPG21 IAGP 7240710OMIM  
SPG21 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
SPG21 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:28492532
SPG21 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:25741868 PMID:26467025 PMID:28492532
SPG21 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:26467025 PMID:28492532
SPG21 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndrome 
SPG21 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:25741868 PMID:25741909
SPG21 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:25741868
SPG21 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:14564668 PMID:28492532
SPG21 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVEPMID:25741868 PMID:28492532
SPG21 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:25741868 PMID:26467025 PMID:35111129
SPG21 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:25741868 PMID:35111129
SPG21 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:35111129
SPG21 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:17576681 PMID:28492532 PMID:9536098
SPG21 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:14564668 PMID:16199547 PMID:25741868 PMID:28492532
SPG21 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:28752238
SPG21 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:14564668 PMID:28492532 PMID:6024251
SPG21 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mast syndromePMID:14564668 PMID:24451228 PMID:6024251
SPG21 ISSSpg21 (Mus musculus)13592920MouseDOOMIM:248900 
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