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GENE - TERM ANNOTATION REPORT

RGD ID: 18526683
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SPTB
Name: spectrin beta, erythrocytic
Acc ID: DOID:0110917
Term: hereditary spherocytosis type 2
Definition: A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. (DO)
Definition Source(s): PMID:8102379 "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)
SPTB ISOSPTB (Homo sapiens)7240710OMIM  
SPTB ISOSPTB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related conditionPMID:11703334 PMID:1391962 PMID:1498324 PMID:17576681 PMID:19538529 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28102861 PMID:28492532 PMID:29572776 PMID:29758562 PMID:30198572 PMID:30486584 PMID:31122244 PMID:31126250 PMID:31602632 PMID:31723846 PMID:31807509 PMID:31980736 PMID:32436265 PMID:32596782 PMID:32641076 PMID:33014018 PMID:33074480 PMID:33868383 PMID:34140613 PMID:34182956 PMID:34335240 PMID:35406697 PMID:36071563 PMID:36135330 PMID:36203343 PMID:38069343 PMID:38556258 PMID:38592584 PMID:6426236 PMID:7883966 PMID:8018926 PMID:8667615 PMID:8844207 PMID:9536098 PMID:9714702
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