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GENE - TERM ANNOTATION REPORT

RGD ID: 12734007
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Srd5a3
Name: steroid 5 alpha-reductase 3
Acc ID: DOID:0070263
Term: congenital disorder of glycosylation type IIk
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22683087 "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)
Srd5a3 ISOSRD5A3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TMEM165-CDGPMID:22521416 PMID:26657937 PMID:28492532
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