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GENE - TERM ANNOTATION REPORT

RGD ID: 1320171
Species: Mus musculus
RGD Object: Gene
Symbol: Polr1c
Name: polymerase (RNA) I polypeptide C
Acc ID: DOID:0111479
Term: combined oxidative phosphorylation deficiency 8
Definition: A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21549344 "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)
Polr1c ISOPOLR1C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25326637 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:27839525 PMID:28492532 PMID:28633377 PMID:29440775 PMID:29749055 PMID:29971983 PMID:30054184 PMID:30285085 PMID:30819764 PMID:31099476 PMID:31106991 PMID:31885218 PMID:35305867 PMID:37377599
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