Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Phosphoenolpyruvate Carboxykinase Deficiency
go back to main search page
Accession:DOID:9003263 term browser browse the term
Synonyms:exact_synonym: PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP) DEFICIENCY;   Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency;   Phosphoenolpyruvate carboxylase deficiency;   Phosphopyruvate carboxylase deficiency
 primary_id: MESH:C536654


show annotations for term's descendants           Sort by:
Phosphoenolpyruvate Carboxykinase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase (GTP) deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:28492532 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, cytosolic OMIM
ClinVar		 PMID:1092127 PMID:24863970 PMID:25741868 PMID:26971250 PMID:28216384 More... NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      endocrine system disease 6776
        liver disease 2954
          Phosphoenolpyruvate Carboxykinase Deficiency 3
            Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 1
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          inherited metabolic disorder 6213
            carbohydrate metabolic disorder 3268
              Phosphoenolpyruvate Carboxykinase Deficiency 3
                Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 1
                Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
paths to the root