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GENE - TERM ANNOTATION REPORT

RGD ID: 621714
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sptan1
Name: spectrin, alpha, non-erythrocytic 1
Acc ID: DOID:0050592
Term: asphyxiating thoracic dystrophy
Definition: A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy "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)
Sptan1 ISOSPTAN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Jeune thoracic dystrophyPMID:24183451 PMID:28492532 PMID:29068549
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