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GENE - TERM ANNOTATION REPORT

RGD ID: 1310190
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Snx5
Name: sorting nexin 5
Acc ID: DOID:0070219
Term: familial hyperinsulinemic hypoglycemia 1
Definition: A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7005072 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7716548 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8545179 "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)
Snx5 ISOSNX5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1PMID:38605124
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