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GENE - TERM ANNOTATION REPORT

RGD ID: 13971239
Species: Sus scrofa
RGD Object: Gene
Symbol: AKR1D1
Name: aldo-keto reductase family 1 member D1
Acc ID: DOID:0111069
Term: congenital bile acid synthesis defect 2
Definition: A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. (DO)
Definition Source(s): ORDO:79303, https://www.ncbi.nlm.nih.gov/pubmed/12970144, https://www.ncbi.nlm.nih.gov/pubmed/3198770
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)
AKR1D1 ISORGD:7366377240710OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.