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GENE - TERM ANNOTATION REPORT

RGD ID: 1552652
Species: Mus musculus
RGD Object: Gene
Symbol: Elac2
Name: elaC ribonuclease Z 2
Acc ID: DOID:0111496
Term: combined oxidative phosphorylation deficiency 17
Definition: A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23849775 "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)
Elac2susceptibilityISOELAC2 (Homo sapiens)7240710OMIM  
Elac2 ISOELAC2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Elac2 ISOELAC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17PMID:10986046 PMID:11175785 PMID:11507049 PMID:12515253 PMID:12522685 PMID:15863270 PMID:16199547 PMID:17576681 PMID:23849775 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27769300 PMID:28441660 PMID:28454995 PMID:28492532 PMID:30094188 PMID:30217939 PMID:31045291 PMID:32685970 PMID:32870709 PMID:34056100 PMID:34732400 PMID:9536098
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