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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:Methylmalonyl-CoA Epimerase Deficiency
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Accession:DOID:9000454 term browser browse the term
Synonyms:exact_synonym: Methylmalonyl-CoA Racemase Deficiency
 narrow_synonym: METHYLMALONIC ACIDURIA III;   METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY
 primary_id: MESH:C565386
 alt_id: MIM:251120


show annotations for term's descendants           Sort by:
Methylmalonyl-CoA Epimerase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,144,184...49,168,872
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625 		JBrowse link
G ANKRD53 ankyrin repeat domain 53 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,288,201...69,293,813
Ensembl chr10:69,286,164...69,298,600 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G AUP1 AUP1 lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,613,648...48,617,091
Ensembl chr17:48,613,725...48,616,728 		JBrowse link
G BOLA3 bolA family member 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,941,730...48,952,327
Ensembl chr17:48,941,387...48,989,852 		JBrowse link
G C17H2orf78 chromosome 17 C2orf78 homolog ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,231,377...49,239,686
Ensembl chr17:49,231,149...49,238,621 		JBrowse link
G C17H2orf81 chromosome 17 C2orf81 homolog ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,704,515...48,717,648 JBrowse link
G CCDC142 coiled-coil domain containing 142 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,655,347...48,662,609
Ensembl chr17:48,655,383...48,662,583 		JBrowse link
G CD207 CD207 molecule ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,186,698...69,190,289 JBrowse link
G CLEC4F C-type lectin domain family 4 member F ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,170,393...69,179,578
Ensembl chr10:69,170,437...69,179,914 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894 		JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147 		JBrowse link
G DGUOK deoxyguanosine kinase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G DOK1 docking protein 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,588,579...48,591,523
Ensembl chr17:48,589,023...48,591,721 		JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,617,170...48,623,591
Ensembl chr17:48,617,613...48,623,591 		JBrowse link
G DUSP11 dual specificity phosphatase 11 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,245,476...49,261,774
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876 		JBrowse link
G EGR4 early growth response 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,575,964...49,580,697
Ensembl chr17:49,575,466...49,578,251 		JBrowse link
G EMX1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More...
G EXOC6B exocyst complex component 6B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,986,330...50,607,658
Ensembl chr17:49,986,390...50,604,451 		JBrowse link
G FBXO41 F-box protein 41 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,585,511...49,613,406
Ensembl chr17:49,599,488...49,609,166 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,148,938...69,170,371
Ensembl chr10:69,157,741...69,163,028 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399 		JBrowse link
G INO80B INO80 complex subunit B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,674,004...48,676,869 JBrowse link
G LBX2 ladybird homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,641,630...48,643,411
Ensembl chr17:48,641,674...48,643,239 		JBrowse link
G LOC100856782 T-complex protein 1 subunit eta ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr34:37,026,053...37,027,839 JBrowse link
G LOXL3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,590,996...48,610,264
Ensembl chr17:48,591,768...48,610,392 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III OMIM
ClinVar		 PMID:16199547 PMID:16697227 PMID:16752391 PMID:17823972 PMID:19763152 More... NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MOB1A MOB kinase activator 1A ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,915,300...48,936,522
Ensembl chr17:48,915,346...48,933,303 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,666,220...48,670,848
Ensembl chr17:48,667,224...48,670,646 		JBrowse link
G MPHOSPH10 M-phase phosphoprotein 10 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 3:38,057,290...38,080,489
Ensembl chr 3:38,060,743...38,080,242 		JBrowse link
G MRPL53 mitochondrial ribosomal protein L53 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,663,271...48,666,078
Ensembl chr17:48,663,598...48,664,554 		JBrowse link
G MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,882,838...48,896,816
Ensembl chr17:48,883,724...48,941,949 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,367,477...51,376,461 JBrowse link
G NAT8 N-acetyltransferase 8 (putative) ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,285,915...49,288,362 JBrowse link
G NOTO notochord homeobox ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More...
G PAIP2B poly(A) binding protein interacting protein 2B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,381,891...51,388,964
Ensembl chr17:51,385,194...51,413,360 		JBrowse link
G PCGF1 polycomb group ring finger 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,633,207...48,642,435
Ensembl chr17:48,633,332...48,635,554 		JBrowse link
G PRADC1 protease associated domain containing 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,633,772...49,649,450
Ensembl chr17:49,633,769...49,637,708 		JBrowse link
G RAB11FIP5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,735,511...49,772,228
Ensembl chr17:49,735,097...49,803,741 		JBrowse link
G RTKN rhotekin ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,684,794...48,700,309
Ensembl chr17:48,685,089...48,699,966 		JBrowse link
G SFXN5 sideroflexin 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,773,446...49,896,373
Ensembl chr17:49,773,883...49,894,400 		JBrowse link
G SLC4A5 solute carrier family 4 member 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,769,963...48,882,201
Ensembl chr17:48,797,807...48,880,441 		JBrowse link
G SMYD5 SMYD family member 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,638,436...49,650,231
Ensembl chr17:49,639,765...49,650,182 		JBrowse link
G SPR sepiapterin reductase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,950,192...49,957,455
Ensembl chr17:49,950,800...49,957,417 		JBrowse link
G STAMBP STAM binding protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,194,810...49,221,017
Ensembl chr17:49,195,101...49,221,013 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675 		JBrowse link
G TEX261 testis expressed 261 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,294,347...69,301,934 JBrowse link
G TLX2 T cell leukemia homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,625,008...48,627,085
Ensembl chr17:48,625,632...48,627,052 		JBrowse link
G TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G TTC31 tetratricopeptide repeat domain 31 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,647,765...48,655,413
Ensembl chr17:48,647,504...48,656,066 		JBrowse link
G VAX2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,252,926...69,262,225 JBrowse link
G WBP1 WW domain binding protein 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,671,039...48,673,817
Ensembl chr17:48,671,152...48,673,459 		JBrowse link
G WDR54 WD repeat domain 54 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,700,432...48,734,250
Ensembl chr17:48,700,431...48,704,344 		JBrowse link
G ZNF638 zinc finger protein 638 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,251,517...51,318,758
Ensembl chr17:51,251,520...51,318,590 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    Nutritional and Metabolic Diseases 7492
      disease of metabolism 7492
        inherited metabolic disorder 5942
          amino acid metabolic disorder 1576
            Methylmalonyl-CoA Epimerase Deficiency 56
              Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 15760
    Developmental Disease 13765
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12845
        genetic disease 12543
          inherited metabolic disorder 5942
            amino acid metabolic disorder 1576
              Methylmalonyl-CoA Epimerase Deficiency 56
                Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency 0
paths to the root