Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 1304799
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dguok
Name: deoxyguanosine kinase
Acc ID: DOID:0080121
Term: mitochondrial DNA depletion syndrome 3
Definition: A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24423689 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30589726 "DO" "DO", https://www.omim.org/entry/251880 "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)
Dguok IMP 15039296RGD  
Dguok ISODguok (Mus musculus)15039214RGD  
Dguok ISODGUOK (Homo sapiens)7240710OMIM  
Dguok ISODGUOK (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dguok ISODGUOK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebralPMID:11687800 PMID:11983456 PMID:12205643 PMID:12210798 PMID:14568816 PMID:14623087 PMID:15639197 PMID:15887277 PMID:16263314 PMID:16908739 PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:19103789 PMID:19265691 PMID:22622127 PMID:23043144 PMID:24321534 PMID:24642831 PMID:25131622 PMID:25326637 PMID:25741868 PMID:26874653 PMID:27324545 PMID:28492532 PMID:28493820 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30366773 PMID:30393377 PMID:30589726 PMID:30956829 PMID:31664448 PMID:32482602 PMID:33486010 PMID:9175742 PMID:9536098
Go Back to source page   Continue to Ontology report