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GENE - TERM ANNOTATION REPORT

RGD ID: 1622089
Species: Mus musculus
RGD Object: Gene
Symbol: Igfn1
Name: immunoglobulin-like and fibronectin type III domain containing 1
Acc ID: DOID:0111691
Term: familial adult myoclonic epilepsy 5
Definition: A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23518707 "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)
Igfn1 ISOIGFN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5PMID:28492532
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