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GENE - TERM ANNOTATION REPORT

RGD ID: 14177342
Species: Sus scrofa
RGD Object: Gene
Symbol: SPAST
Name: spastin
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
SPAST ISOSPAST (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10610178 PMID:10699187 PMID:11309678 PMID:11809724 PMID:12161613 PMID:12202986 PMID:14732620 PMID:15095758 PMID:15716377 PMID:16009769 PMID:16055926 PMID:16240363 PMID:16682546 PMID:16832076 PMID:17971434 PMID:18202664 PMID:18701882 PMID:18975132 PMID:19875132 PMID:20562464 PMID:20932283 PMID:21834905 PMID:21888932 PMID:22552817 PMID:22960362 PMID:24215330 PMID:25045380 PMID:25131622 PMID:25326637 PMID:25741868 PMID:25741869 PMID:26094131 PMID:26208798 PMID:26467025 PMID:26600529 PMID:27084228 PMID:27260292 PMID:27334366 PMID:27871443 PMID:28492532 PMID:29112992 PMID:29421991 PMID:29761117 PMID:29908077 PMID:29934652 PMID:29980238 PMID:30006150 PMID:30476002 PMID:30564185 PMID:31134136 PMID:31227335 PMID:31594988 PMID:31630374 PMID:33084218 PMID:33624935 PMID:33770234 PMID:34531397 PMID:34753439 PMID:35896380 PMID:36359747
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