.
phosphoglycerate kinase 1 deficiency - Ontology Report - Rat Genome Database

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 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
Advanced Search (OLGA)

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:phosphoglycerate kinase 1 deficiency
go back to main search page
Accession:DOID:0111933 term browser browse the term
Definition:A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: GSD due to phosphoglycerate kinase 1 deficiency;   PGK Deficiency;   PGK1 deficiency;   glycogen storage disease due to phosphoglycerate kinase 1 deficiency;   glycogenosis due to phosphoglycerate kinase 1 deficiency;   phosphoglycerate kinase deficiency
 broad_synonym: PGK1-related condition;   PGK1-related disorder
 xref: GARD:7389;   MESH:C567067;   MIM:300653;   MONDO:0010392;   NCI:C126738;   ORDO:713

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
phosphoglycerate kinase 1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder OMIM
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chrNW_004624836:2,657,320...2,676,124
Ensembl chrNW_004624836:2,653,474...2,676,766 		JBrowse link
G G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder OMIM
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:67,072,029...67,093,881 JBrowse link
G P PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder OMIM
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:62,187,472...62,210,321
Ensembl chr  X:62,187,434...62,210,705 		JBrowse link
G S Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder OMIM
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chrNW_004936547:286,267...310,062
Ensembl chrNW_004936547:286,267...310,062 		JBrowse link
G D PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder OMIM
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:60,374,743...60,396,244
Ensembl chr  X:60,374,754...60,423,947 		JBrowse link
G B PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder OMIM
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:67,280,269...67,302,307
Ensembl chr  X:77,391,805...77,414,459 		JBrowse link
G C Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder OMIM
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chrNW_004955557:1,566,534...1,584,799 JBrowse link
G R Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
G M Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:105,230,706...105,247,305
Ensembl chr  X:105,230,706...105,247,305 		JBrowse link
G H PGK1 phosphoglycerate kinase 1 IAGP
EXP		 ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-related disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:78,104,248...78,129,295
Ensembl chr  X:77,910,739...78,129,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        inherited metabolic disorder 74830
          carbohydrate metabolic disorder 41086
            glucose metabolism disease 28332
              phosphoglycerate kinase 1 deficiency 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            X-linked monogenic disease 14776
              X-linked recessive disease 8942
                phosphoglycerate kinase 1 deficiency 10
paths to the root