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GENE - TERM ANNOTATION REPORT

RGD ID: 734248
Species: Mus musculus
RGD Object: Gene
Symbol: Eef1a2
Name: eukaryotic translation elongation factor 1 alpha 2
Acc ID: DOID:0070068
Term: autosomal dominant intellectual developmental disorder 38
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24697219 "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)
Eef1a2 ISOEEF1A2 (Homo sapiens)7240710OMIM  
Eef1a2 ISOEEF1A2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Eef1a2 ISOEEF1A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38PMID:18414213 PMID:23033978 PMID:23647072 PMID:24697219 PMID:25326326 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26682508 PMID:26795593 PMID:27441201 PMID:27652284 PMID:28135719 PMID:28378778 PMID:28492532 PMID:28628100 PMID:28911200 PMID:3066688 PMID:32160274 PMID:32196822 PMID:32429945 PMID:33004838
Eef1a2 IAGP 13592920MouseDOOMIM:616393 
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