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GENE - TERM ANNOTATION REPORT

RGD ID: 32716488
Species: Homo sapiens
RGD Object: Gene
Symbol: SPG7
Name: SPG7 matrix AAA peptidase subunit, paraplegin
Acc ID: HP:0002120
Term: Cerebral cortical atrophy
Definition: Atrophy of the cortex of the cerebrum.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
SPG7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cortical atrophy

PMID:11222789 PMID:18799786 PMID:21623769 PMID:22554690 PMID:22571692 PMID:22964162 PMID:23065789 PMID:23269439 PMID:23812641 PMID:24033266 PMID:24466038 PMID:24727571 PMID:24731568 PMID:25741868 PMID:26094131 PMID:26260707 PMID:26374131 PMID:26467025 PMID:26626314 PMID:26671083 PMID:26756429 PMID:27084228 PMID:27165006 PMID:27217339 PMID:27260292 PMID:28492532 PMID:28608987 PMID:28832565 PMID:29026558 PMID:29915382 PMID:30533525 PMID:31068484 PMID:31345272 PMID:31433872 PMID:31692161 PMID:32161564
SPG7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cortical atrophy

PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 PMID:18200586 PMID:18799786 PMID:20186691 PMID:21623769 PMID:22571692 PMID:22964162 PMID:23065789 PMID:23269439 PMID:23733235 PMID:24033266 PMID:24727571 PMID:25497598 PMID:25681447 PMID:25741868 PMID:26467025 PMID:26506339 PMID:26626314 PMID:27084228 PMID:27165006 PMID:27957547 PMID:28362824 PMID:28444220 PMID:28492532 PMID:28832565 PMID:29026558 PMID:29057857 PMID:29246844 PMID:29915382 PMID:30098094 PMID:30537300 PMID:32581362 PMID:32973427
SPG7 IAGP 8699517HPO OMIM:607259
SPG7 IAGP 8699517HPO ORPHA:99013
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