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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: PCC deficiencies;   PCC deficiency;   hyperglycinemia with ketoacidosis and leukopenia;   ketotic II glycinemia;   ketotic glycinemia;   ketotic glycinemias;   ketotic hyperglycinemia;   ketotic hyperglycinemias;   propionic acidemias;   propionic aciduria;   propionic acidurias;   propionyl CoA carboxylase deficiency;   propionyl-CoA carboxylase deficiencies
 xref: GARD:467;   ICD10CM:E71.121;   MESH:D056693;   MIM:606054;   MONDO:0011628;   NCI:C85030
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 9:53,760,885...53,797,125
Ensembl chr 9:53,761,331...53,797,118 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:53,690,704...53,728,801
Ensembl chr 9:53,690,786...53,727,639 		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 chr15:105,690,295...105,912,345 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:53,801,471...53,846,611
Ensembl chr 9:53,801,714...53,875,084 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:107,442,800...108,086,486
Ensembl chr15:107,451,634...108,085,808 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:15464417 PMID:19157943 PMID:22033733 PMID:25741868 PMID:28492532 NCBI chr15:99,969,246...99,998,343
Ensembl chr15:106,366,120...106,404,004 		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 chr15:107,186,689...107,451,098 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:53,625,473...53,637,220
Ensembl chr 9:53,626,093...53,637,204 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 PMID:28982351 PMID:29499199 PMID:33980295 PMID:35085585 NCBI chr 7:23,793,096...23,885,631
Ensembl chr 7:23,792,781...23,885,627 		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 chr15:106,034,586...106,374,908
Ensembl chr15:106,034,610...106,374,908 		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 8:110,469,934...110,520,187 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:53,748,484...53,801,453
Ensembl chr 9:53,740,998...53,760,588 		JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr16:91,088,089...91,111,025
Ensembl chr16:91,076,423...91,111,025 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:53,735,512...53,744,672
Ensembl chr 9:53,735,512...53,741,042 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:105,606,082...105,660,715
Ensembl chr15:105,606,118...105,660,714 		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 chr15:106,407,597...106,463,210 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 9:53,538,788...53,620,253
Ensembl chr 9:53,538,313...53,620,251 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:105,366,776...105,514,435
Ensembl chr15:105,366,697...105,514,444 		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 chr17:34,173,787...34,190,952
Ensembl chr17:34,173,833...34,190,950 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167 		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 chr15:105,964,932...105,973,669 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          amino acid metabolic disorder 1595
            propionic acidemia 22
              CoQ-Responsive OXPHOS Deficiency 0
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            amino acid metabolic disorder 1595
              organic acidemia 388
                propionic acidemia 22
                  CoQ-Responsive OXPHOS Deficiency 0
paths to the root