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GENE - TERM ANNOTATION REPORT

RGD ID: 1305194
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Spta1
Name: spectrin, alpha, erythrocytic 1
Acc ID: DOID:12971
Term: hereditary spherocytosis
Definition: A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hereditary_spherocytosis "DO" "DO", https://research.nhgri.nih.gov/RBCmembrane/ "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)
Spta1 ISOSPTA1 (Homo sapiens)11059521RGDDNA:polymorphisms:introns,exon: 
Spta1 ISOSpta1 (Mus musculus)11059522RGDDNA:deletion:cds: 
Spta1 ISOSPTA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, RecessivePMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 PMID:8941647
Spta1 ISOSPTA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, RecessivePMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:30976395 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 PMID:8941647
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