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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:propionic acidemia
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Accession:DOID:14701 term browser browse the term
Definition:An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. (DO)
Synonyms:exact_synonym: Hyperglycinemia With Ketoacidosis And Leukopenia;   Ketotic Glycinemia;   Ketotic Hyperglycinemia;   PCC Deficiency;   PCC deficiencies;   ketotic II glycinemia;   ketotic glycinemias;   ketotic hyperglycinemias;   propionic acidemias;   propionic aciduria;   propionic acidurias;   propionyl CoA carboxylase deficiency;   propionyl-CoA carboxylase deficiencies
 primary_id: MESH:D056693
 alt_id: OMIM:606054
 xref: GARD:467;   ICD10CM:E71.121;   NCI:C85030
For additional species annotation, visit the Alliance of Genome Resources.



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propionic acidemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:15464417 PMID:19157943 PMID:22033733 PMID:28492532 NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:606054
ClinVar Annotator: match by term: Propionic acidemia
OMIM
CTD
MouseDO
ClinVar
PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 More... NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
JBrowse link
G Pccb propionyl-CoA carboxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Propionic acidemia
OMIM
CTD
ClinVar
PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 More... NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,243,416...46,252,273
Ensembl chr 9:46,242,748...46,252,249
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:31883641 NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:99,558,285...99,567,023
Ensembl chr15:99,560,323...99,567,035
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            propionic acidemia 21
              CoQ-Responsive OXPHOS Deficiency 0
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              organic acidemia 384
                propionic acidemia 21
                  CoQ-Responsive OXPHOS Deficiency 0
paths to the root