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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 chr 4:117,579,513...117,604,379
Ensembl chr 4:116,021,832...116,046,465 		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 chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		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 chr 4:116,245,561...116,253,018
Ensembl chr 4:116,246,955...116,253,017 		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 chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		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 chr 4:115,560,274...115,563,346
Ensembl chr 4:115,560,261...115,563,346 		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 chr 4:115,853,350...115,862,797
Ensembl chr 4:115,853,350...115,862,797 		JBrowse link
G C1h2orf78 similar to human chromosome 2 open reading frame 78 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 1:92,743,788...92,752,219
Ensembl chr 1:92,746,607...92,752,133 		JBrowse link
G C4h2orf81 similar to human chromosome 2 open reading frame 81 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:115,661,617...115,667,929
Ensembl chr 4:115,661,638...115,703,815 		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 chr 4:115,606,151...115,616,223
Ensembl chr 4:115,608,485...115,616,216 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580 		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 chr 4:116,155,229...116,161,587
Ensembl chr 4:116,155,212...116,161,518 		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 chr 4:116,129,023...116,138,744
Ensembl chr 4:116,129,023...116,138,775 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628 		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 chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		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 chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		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 chr 4:115,537,453...115,540,464
Ensembl chr 4:115,537,462...115,540,465 		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 chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590 		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 chr 4:118,367,673...118,385,183
Ensembl chr 4:118,368,053...118,385,181 		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 chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709 		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 chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328 		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... NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613 		JBrowse link
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 chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180 		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 chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406 		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 chr 4:118,432,517...118,436,846
Ensembl chr 4:118,432,765...118,436,690 		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 chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		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 chr 4:115,627,907...115,631,069
Ensembl chr 4:115,627,908...115,631,456 		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 chr 4:115,591,974...115,593,859
Ensembl chr 4:115,591,974...115,594,132 		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 chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466 		JBrowse link
G Mcee methylmalonyl CoA epimerase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III 		OMIM
CTD
ClinVar		 PMID:16199547 PMID:16697227 PMID:16752391 PMID:17823972 PMID:19763152 More... NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484 		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 chr 4:115,831,581...115,848,561
Ensembl chr 4:115,831,551...115,848,561
Ensembl chr 1:115,831,551...115,848,561 		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 chr 4:115,621,623...115,625,026
Ensembl chr 4:115,621,623...115,625,032 		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 1:117,948,134...117,964,149
Ensembl chr 1:117,948,134...117,964,149 		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 chr 4:115,615,329...115,616,219 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 chr 4:115,811,135...115,822,663
Ensembl chr 4:115,811,139...115,822,608 		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 chr 4:116,281,179...116,293,870
Ensembl chr 4:116,281,328...116,313,137 		JBrowse link
G Nat8 N-acetyltransferase 8 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:119,836,986...119,837,764
Ensembl chr 4:118,270,954...118,281,763 		JBrowse link
G Nat8b N-acetyltransferase 8B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 4:119,916,909...119,923,544
Ensembl chr 4:118,359,443...118,363,563 		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... NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402 		JBrowse link
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 chr 4:116,292,001...116,323,387
Ensembl chr 4:116,292,020...116,323,379 		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 chr 4:115,576,165...115,587,019
Ensembl chr 4:115,583,867...115,587,008 		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 chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886 		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 chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741 		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 chr 4:115,640,813...115,657,952
Ensembl chr 4:115,640,774...115,657,952 		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 chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794 		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 chr 4:115,710,101...115,810,330
Ensembl chr 4:115,725,592...115,810,323 		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 chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347 		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 chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678 		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 chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543 		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 chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		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 chr 4:116,253,547...116,260,730
Ensembl chr 4:116,244,600...116,260,253 		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 chr 4:115,573,736...115,576,097
Ensembl chr 4:115,573,799...115,575,642 		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 chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		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 chr 4:116,195,528...116,219,597
Ensembl chr 4:116,195,528...116,219,594 		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 chr 4:115,625,168...115,627,567
Ensembl chr 4:115,625,168...115,627,624 		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 chr 4:115,654,968...115,677,979
Ensembl chr 4:115,654,968...115,661,562 		JBrowse link
G Zfp638 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 chr 4:116,355,934...116,475,051
Ensembl chr 4:116,402,428...116,479,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Nutritional and Metabolic Diseases 8546
      disease of metabolism 8546
        inherited metabolic disorder 6627
          amino acid metabolic disorder 1594
            Methylmalonyl-CoA Epimerase Deficiency 56
              Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6627
            amino acid metabolic disorder 1594
              Methylmalonyl-CoA Epimerase Deficiency 56
                Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency 0
paths to the root