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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 chr2A:73,966,939...73,993,862
Ensembl chr2A:75,476,877...75,503,658 		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 chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139 		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 chr2A:71,041,283...71,050,091
Ensembl chr2A:72,156,178...72,163,202 		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 chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612 		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 chr2A:74,593,260...74,596,372
Ensembl chr2A:76,099,634...76,102,464 		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 chr2A:74,207,111...74,219,705
Ensembl chr2A:75,715,161...75,727,622 		JBrowse link
G C12H2orf78 chromosome 12 C2orf78 homolog ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:73,880,051...73,888,551
Ensembl chr2A:75,379,831...75,397,700 		JBrowse link
G C12H2orf81 chromosome 12 C2orf81 homolog ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:74,480,820...74,488,353
Ensembl chr2A:75,985,181...75,990,074 		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 chr2A:73,287,026...73,305,792
Ensembl chr2A:74,775,781...74,794,515 		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 chr2A:70,893,068...70,898,668
Ensembl chr2A:72,006,822...72,012,421 		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 chr2A:70,872,242...70,883,547
Ensembl chr2A:71,985,814...71,997,123 		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 chr2A:72,172,658...72,191,410
Ensembl chr2A:73,670,830...73,686,433 		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 chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296 		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 chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563 		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 chr2A:74,615,542...74,624,183
Ensembl chr2A:76,126,749...76,130,162 		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 chr2A:74,584,797...74,592,872
Ensembl chr2A:76,091,342...76,099,110 		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 chr2A:73,823,262...73,841,600
Ensembl chr2A:75,358,695...75,375,785 		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 chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846 		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 chr2A:73,343,705...73,346,476
Ensembl chr2A:74,831,326...74,834,246 		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 chr2A:72,969,693...73,030,427 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 chr2A:72,225,310...72,878,506
Ensembl chr2A:73,723,392...74,371,820 		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 chr2A:73,307,478...73,337,242
Ensembl chr2A:74,800,490...74,811,075 		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 chr2A:70,840,305...70,853,542
Ensembl chr2A:71,954,124...71,967,339 		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 chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152 		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 chr2A:74,521,624...74,524,578
Ensembl chr2A:76,027,621...76,030,549 		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 chr2A:74,563,221...74,569,990
Ensembl chr2A:76,070,437...76,075,778 		JBrowse link
G LOC100971190 putative 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 chr2A:73,761,907...73,763,964
Ensembl chr2A:75,297,531...75,298,213 		JBrowse link
G LOC100988969 large ribosomal subunit protein mL53 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr2A:74,538,684...74,549,677
Ensembl chr2A:76,046,330...76,056,586
Ensembl chr2A:76,046,330...76,056,586 		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 chr2A:74,598,870...74,622,502
Ensembl chr2A:76,105,957...76,128,495 		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 chr2A:71,154,176...71,176,679
Ensembl chr2A:72,656,860...72,677,401 		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 chr2A:74,224,304...74,250,863
Ensembl chr2A:75,732,212...75,757,749 		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 chr2A:74,527,710...74,532,319
Ensembl chr2A:76,033,692...76,038,561 		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 chr2A:71,176,704...71,196,443
Ensembl chr2A:72,677,428...72,697,592 		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 chr2A:74,270,161...74,285,790
Ensembl chr2A:75,777,028...75,792,699 		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 chr2A:71,114,832...71,125,182
Ensembl chr2A:72,616,077...72,626,435 		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 chr2A:73,702,173...73,703,763
Ensembl chr2A:75,189,726...75,190,409 		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 chr2A:73,254,440...73,265,315
Ensembl chr2A:74,744,181...74,752,950 		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 chr2A:71,227,562...71,271,642
Ensembl chr2A:72,733,750...72,772,036 		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 chr2A:74,571,721...74,574,468
Ensembl chr2A:76,077,962...76,080,720 		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 chr2A:73,280,791...73,286,879
Ensembl chr2A:74,769,555...74,775,787 		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 chr2A:73,126,262...73,165,892
Ensembl chr2A:74,620,821...74,657,419 		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 chr2A:74,492,520...74,509,037
Ensembl chr2A:75,998,494...76,015,046 		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 chr2A:72,994,664...73,125,483 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 chr2A:74,288,481...74,428,014
Ensembl chr2A:75,798,510...75,888,448 		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 chr2A:73,267,007...73,280,006
Ensembl chr2A:74,755,794...74,768,776 		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 chr2A:72,939,621...72,944,669
Ensembl chr2A:74,433,056...74,438,105 		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 chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086 		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 chr2A:74,058,948...74,180,046
Ensembl chr2A:75,568,636...75,682,701 		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 chr2A:71,050,226...71,060,643
Ensembl chr2A:72,163,645...72,172,498 		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 chr2A:74,581,111...74,583,425
Ensembl chr2A:76,087,113...76,089,324 		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 chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271 		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 chr2A:74,549,680...74,563,164
Ensembl chr2A:76,056,437...76,067,481 		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 chr2A:70,964,829...70,997,702
Ensembl chr2A:72,078,829...72,111,463 		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 chr2A:74,524,722...74,527,536 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 chr2A:74,488,345...74,492,392
Ensembl chr2A:75,994,394...75,998,385 		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 chr2A:71,321,110...71,476,737
Ensembl chr2A:72,878,675...72,976,090 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    Nutritional and Metabolic Diseases 7501
      disease of metabolism 7501
        inherited metabolic disorder 5946
          amino acid metabolic disorder 1616
            Methylmalonyl-CoA Epimerase Deficiency 56
              Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 15838
    Developmental Disease 13862
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          inherited metabolic disorder 5946
            amino acid metabolic disorder 1616
              Methylmalonyl-CoA Epimerase Deficiency 56
                Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency 0
paths to the root