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GENE - TERM ANNOTATION REPORT

RGD ID: 13952480
Species: Sus scrofa
RGD Object: Gene
Symbol: SERPINA6
Name: serpin family A member 6
Acc ID: DOID:0090030
Term: corticosteroid-binding globulin deficiency
Definition: An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. (DO)
Definition Source(s): PMID:10634411 "DO" "DO", PMID:7061486 "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)
SERPINA6 ISOSERPINA6 (Homo sapiens)7240710OMIM  
SERPINA6 ISOSERPINA6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency | ClinVar Annotator: match by term: SERPINA6-related condition | ClinVar Annotator: match by term: TRANSCORTIN DEFICIENCYPMID:10634411 PMID:11502797 PMID:12780753 PMID:1504007 PMID:17245537 PMID:25741868 PMID:7061486 PMID:8212073
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