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GENE - TERM ANNOTATION REPORT

RGD ID: 13916117
Species: Sus scrofa
RGD Object: Gene
Symbol: EGF
Name: epidermal growth factor
Acc ID: DOID:0060880
Term: renal hypomagnesemia 3
Definition: A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10390358 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16501001 "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)
EGF ISOEGF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Renal Hypomagnesemia, RecessivePMID:25741868 PMID:28492532
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