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GENE - TERM ANNOTATION REPORT

RGD ID: 3553
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Reln
Name: reelin
Acc ID: DOID:0060751
Term: familial temporal lobe epilepsy 7
Definition: A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26046367 "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)
Reln ISORELN (Homo sapiens)7240710OMIM  
Reln ISORELN (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Reln ISORELN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial temporal lobe epilepsy 7PMID:10973257 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26046367 PMID:26467025 PMID:27884173 PMID:28454995 PMID:28492532 PMID:29358611 PMID:32860008 PMID:33004838 PMID:33453592 PMID:34569441
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