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: maple syrup urine disease
Accession: DOID:9269
browse the term
Definition: An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. (DO)
Synonyms: exact_synonym: BCKD deficiency; Branched Chain Ketoaciduria; Branched Chain alpha Keto Acid Dehydrogenase Deficiency; Branched-Chain Ketoacidurias; Classic Maple Syrup Urine Disease; Classical Maple Syrup Urine Disease; Keto Acid Decarboxylase Deficiency; MSUD; MSUD (maple syrup urine disease); MSUDMV; PPM1K-RELATED CONDITION; ketoacidaemia
narrow_synonym: maple syrup urine disease, intermediate; maple syrup urine disease, intermittent; maple syrup urine disease, mild variant; maple syrup urine disease, thiamine-responsive
xref: GARD:3228 ; ICD10CM:E71.0 ; MESH:D008375 ; MIM:615135 ; MIM:PS248600 ; MONDO:0009563 ; NCI:C34806 ; ORDO:511
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Actmap
actin maturation protease
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:91,617,859...91,627,489
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Agl
amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:207,389,949...207,445,959
Ensembl chr 2:207,389,949...207,445,724
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Akt2
AKT serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:92,014,859...92,061,420
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Arhgef1
Rho guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:89,628,266...89,649,067
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825
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Axl
Axl receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:90,392,864...90,424,009
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B3gnt8
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:2703538 PMID:11825067 PMID:12888983 PMID:20136525 PMID:28492532
NCBI chr 1:90,263,387...90,266,292
Ensembl chr 1:90,263,827...90,270,287
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B9d2
B9 domain containing 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,315,472...90,323,143
Ensembl chr 1:90,317,200...90,323,175
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Bcat2
branched chain amino acid transaminase 2
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:246900 | OMIM:248600 | OMIM:615135
CTD MouseDO RGD
PMID:14755340 PMID:14755340
RGD:1300291
NCBI chr 1:105,175,157...105,196,474
Ensembl chr 1:105,176,977...105,196,463
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Bckdha
branched chain keto acid dehydrogenase E1 subunit alpha
ISO
ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2060625 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16472748 PMID:16786533 PMID:17329260 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:19763152 PMID:20136525 PMID:20301495 PMID:20307669 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 PMID:22406018 PMID:22593002 PMID:22727569 PMID:23757202 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:27403441 PMID:27896100 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32005694 PMID:32193832 PMID:32778825 PMID:32812330 PMID:33300147 PMID:33996492 PMID:34556729 PMID:34738771 PMID:35281663 PMID:37305718 PMID:37421976 PMID:38957900 PMID:8037208 PMID:1943689 More...
RGD:737779 , RGD:734637
NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749
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Bckdhb
branched chain keto acid dehydrogenase E1 subunit beta
ISO ISS
DNA:deletion mutation:exon 1; ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease OMIM:246900 | OMIM:248600 | OMIM:615135
ClinVar MouseDO RGD
PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:10903343 PMID:11112664 PMID:11448970 PMID:11509994 PMID:12646665 PMID:14504270 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16199547 PMID:16468966 PMID:16786533 PMID:17576681 PMID:17922217 PMID:18378174 PMID:18777518 PMID:19282776 PMID:19480318 PMID:19715473 PMID:20301495 PMID:20307994 PMID:20462274 PMID:21484869 PMID:22326532 PMID:22350544 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24571530 PMID:24770567 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25381949 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25748408 PMID:26232051 PMID:26239723 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:27507644 PMID:27629047 PMID:27682710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29307017 PMID:29740478 PMID:29740775 PMID:29753318 PMID:30228974 PMID:30298499 PMID:31112740 PMID:31119508 PMID:31251765 PMID:31523617 PMID:31610500 PMID:31980395 PMID:32151765 PMID:32193832 PMID:32515140 PMID:32778825 PMID:32812330 PMID:33131499 PMID:33300147 PMID:33955723 PMID:34556729 PMID:34883003 PMID:35281663 PMID:37421976 PMID:2022752 More...
RGD:1599466
NCBI chr 8:93,725,277...93,907,799
Ensembl chr 8:93,725,275...93,907,798
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Bckdk
branched chain ketoacid dehydrogenase kinase
ISO
ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
ClinVar
PMID:25741868 PMID:35205278
NCBI chr 1:191,945,809...191,950,480
Ensembl chr 1:191,946,471...191,953,453
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Blvrb
biliverdin reductase B
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:91,866,258...91,884,225
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C1h19orf47
similar to human chromosome 19 open reading frame 47
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,971,879...92,010,938
Ensembl chr 1:91,971,931...91,999,771
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Ccdc97
coiled-coil domain containing 97
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,347,003...90,354,809
Ensembl chr 1:90,347,008...90,354,764
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:89,621,460...89,625,812
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Cdc14a
cell division cycle 14A
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:206,910,475...207,070,537
Ensembl chr 2:206,910,475...207,091,722
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Ceacam15
CEA cell adhesion molecule 15
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:86,496,487...86,501,454
Ensembl chr 1:86,496,897...86,500,774
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Ceacam4
CEA cell adhesion molecule 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,504,555...89,510,831
Ensembl chr 1:89,504,555...89,510,831
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Ceacam6
CEA cell adhesion molecule 6
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:89,544,400...89,562,552
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354
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Cnfn
cornifelin
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,079,409...90,081,556
Ensembl chr 1:90,078,552...90,081,556
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:91,654,225...91,676,819
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Cyp2a1
cytochrome P450, family 2, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:91,359,272...91,389,730
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Cyp2a3
cytochrome P450, family 2, subfamily a, polypeptide 3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,299,584...91,307,650
Ensembl chr 1:91,299,561...91,307,649
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,780,468...90,859,852
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Cyp2f4
cytochrome P450, family 2, subfamily f, polypeptide 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:91,543,768...91,557,553
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Cyp2s1
cytochrome P450, family 2, subfamily s, polypeptide 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:90,438,224...90,453,073
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Dbt
dihydrolipoamide branched chain transacylase E2
ISO ISS
ClinVar Annotator: match by term: Maple syrup urine disease OMIM:246900 | OMIM:248600 | OMIM:615135
ClinVar MouseDO
PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 PMID:9621512 PMID:11112664 PMID:14508502 PMID:14517957 PMID:14741190 PMID:16199547 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 PMID:18378174 PMID:19480318 PMID:19823873 PMID:20307994 PMID:20570198 PMID:20639189 PMID:21098507 PMID:22090376 PMID:23313820 PMID:23757202 PMID:24033266 PMID:24268812 PMID:24304607 PMID:24394677 PMID:24516753 PMID:24772966 PMID:25255367 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26589311 PMID:27243974 PMID:27518768 PMID:27578510 PMID:28417071 PMID:28492532 PMID:28497172 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31980395 PMID:32151765 PMID:32193832 PMID:32778825 PMID:32812330 PMID:33083013 PMID:33123633 PMID:33131499 PMID:33868929 PMID:34069211 PMID:35799415 PMID:36361642 More...
NCBI chr 2:207,166,660...207,195,528
Ensembl chr 2:207,166,652...207,195,525
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Dedd2
death effector domain containing 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804
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Dld
dihydrolipoamide dehydrogenase
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354
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Dll3
delta like canonical Notch ligand 3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406
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Dmac2
distal membrane arm assembly component 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,250,262...90,262,592
Ensembl chr 1:90,243,532...90,262,594
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Dmrtc2
DMRT-like family C2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:89,594,215...89,601,762
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Dph5
diphthamide biosynthesis 5
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:206,489,556...206,540,590
Ensembl chr 2:206,489,556...206,523,556
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Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:92,607,303...92,614,744
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Egln2
egl-9 family hypoxia-inducible factor 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:91,579,206...91,587,385
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Eid2
EP300 interacting inhibitor of differentiation 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,665,837...92,667,162
Ensembl chr 1:92,665,481...92,675,307
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Eid2b
EP300 interacting inhibitor of differentiation 2B
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,673,119...92,674,899
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Elovl4
ELOVL fatty acid elongase 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478
NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213
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Erich4
glutamate-rich 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,251,345...90,253,085
Ensembl chr 1:90,251,345...90,253,085
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Exosc5
exosome component 5
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:90,293,797...90,305,046
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Extl2
exostosin-like glycosyltransferase 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:206,607,106...206,631,861
Ensembl chr 2:206,607,151...206,631,861
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Fbl
fibrillarin
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:92,597,258...92,606,506
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Fcgbp
Fc gamma binding protein
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,502,461...92,540,658
Ensembl chr 1:92,499,498...92,540,658
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Gpr88
G-protein coupled receptor 88
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:206,876,373...206,885,034
Ensembl chr 2:206,868,585...206,884,945
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Grik5
glutamate ionotropic receptor kainate type subunit 5
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962
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Gsk3a
glycogen synthase kinase 3 alpha
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593
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Hipk4
homeodomain interacting protein kinase 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:91,938,278...91,948,683
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Hmgn3
high mobility group nucleosomal binding domain 3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478
NCBI chr 8:92,902,555...92,939,980
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Hnrnpul1
heterogeneous nuclear ribonucleoprotein U-like 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,356,182...90,391,923
Ensembl chr 1:90,356,182...90,390,370
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Itpkc
inositol-trisphosphate 3-kinase C
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:91,628,608...91,653,350
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Lamb1
laminin subunit beta 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760
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Lca5
lebercilin LCA5
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478
NCBI chr 8:93,187,735...93,255,060
Ensembl chr 8:93,197,702...93,254,991
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Lgals5
galectin 5
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr10:64,351,976...64,355,137
Ensembl chr10:64,351,964...64,355,180
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Lipe
lipase E, hormone sensitive type
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:90,093,433...90,112,117
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Lrrc39
leucine rich repeat containing 39
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:207,201,039...207,220,375
Ensembl chr 2:207,201,042...207,220,371
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Ltbp4
latent transforming growth factor beta binding protein 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:91,727,769...91,760,006
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Lypd4
Ly6/Plaur domain containing 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,588,368...89,594,287
Ensembl chr 1:89,588,368...89,593,890
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Map3k10
mitogen activated protein kinase kinase kinase 10
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:92,083,376...92,101,676
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Megf8
multiple EGF-like-domains 8
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422
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Mfsd14a
major facilitator superfamily domain containing 14A
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:207,264,081...207,305,880
Ensembl chr 2:207,264,941...207,296,505
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Mia
MIA SH3 domain containing
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,601,326...91,603,019
Ensembl chr 1:91,601,327...91,603,019
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Numbl
NUMB-like, endocytic adaptor protein
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:91,677,242...91,701,424
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Pafah1b3
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611
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Phip
pleckstrin homology domain interacting protein
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478
NCBI chr 8:92,656,890...92,771,098
Ensembl chr 8:92,656,890...92,771,021
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Pld3
phospholipase D family, member 3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207
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Plekhg2
pleckstrin homology and RhoGEF domain containing G2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610
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Pou2f2
POU class 2 homeobox 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564
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Ppm1k
protein phosphatase, Mg2+/Mn2+ dependent, 1K
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:246900 | OMIM:248600 | OMIM:615135 ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant | ClinVar Annotator: match by term: PPM1K-related condition
OMIM CTD MouseDO ClinVar
PMID:9536098 PMID:17576681 PMID:23086801 PMID:25741868 PMID:28492532 PMID:36706222 More...
NCBI chr 4:88,942,226...88,969,139
Ensembl chr 4:88,942,386...88,969,136
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Prr19
proline rich 19
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,012,307...90,017,988
Ensembl chr 1:90,014,027...90,017,997
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Prx
periaxin
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235
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Psmc4
proteasome 26S subunit, ATPase 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:92,476,690...92,485,060
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Rab4b
RAB4B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,589,047...91,600,426
Ensembl chr 1:91,589,047...91,600,337
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Rabac1
Rab acceptor 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017
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Rps16
ribosomal protein S16
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,770,658...92,773,603
Ensembl chr19:56,922,246...56,923,020 Ensembl chr 1:56,922,246...56,923,020
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Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132 Ensembl chr 1:104,324,520...104,325,132
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Rtca
RNA 3'-terminal phosphate cyclase
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:207,140,090...207,161,366
Ensembl chr 2:207,140,091...207,161,366
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S1pr1
sphingosine-1-phosphate receptor 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:206,309,715...206,314,070
Ensembl chr 2:205,900,836...206,328,689
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Sass6
SAS-6 centriolar assembly protein
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:207,231,896...207,263,840
Ensembl chr 2:207,231,333...207,263,851
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Selenov
selenoprotein V
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,679,034...92,686,320
Ensembl chr 1:92,679,034...92,686,320
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Sertad1
SERTA domain containing 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:91,891,814...91,907,001
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Sertad3
SERTA domain containing 3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,891,141...91,894,861
Ensembl chr 1:91,893,616...91,897,110
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Sh3bgrl2
SH3 domain binding glutamate-rich protein like 2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478
NCBI chr 8:93,341,104...93,433,143
Ensembl chr 8:93,341,149...93,433,143
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Shkbp1
Sh3kbp1 binding protein 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,764,426...91,777,959
Ensembl chr 1:91,764,426...91,778,158
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Slc30a7
solute carrier family 30 member 7
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:206,544,800...206,607,087
Ensembl chr 2:206,544,800...206,607,043
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Slc35a3
solute carrier family 35 member A3
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:207,305,008...207,344,225
Ensembl chr 2:207,307,947...207,344,155
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Snrpa
small nuclear ribonucleoprotein polypeptide A
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:91,609,420...91,618,042
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Sptbn4
spectrin, beta, non-erythrocytic 4
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049
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Supt5h
SPT5 homolog, DSIF elongation factor subunit
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,714,276...92,745,489
Ensembl chr 1:92,714,281...92,744,445
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Tgfb1
transforming growth factor, beta 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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Timm50
translocase of inner mitochondrial membrane 50
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:92,702,437...92,710,311
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Tmem145
transmembrane protein 145
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,019,727...90,029,432
Ensembl chr 1:90,019,745...90,029,427
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Tmem91
transmembrane protein 91
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:90,307,264...90,314,796
Ensembl chr 1:90,306,289...90,313,320
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Trmt13
tRNA methyltransferase 13 homolog
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:207,217,399...207,232,467
Ensembl chr 2:207,218,552...207,231,701
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Ttc9b
tetratricopeptide repeat domain 9B
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,081,026...92,083,208
Ensembl chr 1:92,080,806...92,083,203
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Ttk
Ttk protein kinase
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478
NCBI chr 8:93,632,678...93,672,664
Ensembl chr 8:93,634,319...93,672,664
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Vcam1
vascular cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801
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Zfp11
zinc finger protein 11
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr12:32,664,312...32,676,940
Ensembl chr12:32,650,373...32,677,739
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Zfp526
zinc finger protein 526
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958
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Zfp574
zinc finger protein 574
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198
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Znf780b
zinc finger protein 780B
ISO
ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar
PMID:28492532
NCBI chr 1:92,136,761...92,159,076
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Dld
dihydrolipoamide dehydrogenase
ISO
ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9536098 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11186938 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17125710 PMID:17404228 PMID:17576681 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:21996136 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:25741884 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 PMID:31334547 PMID:31683770 PMID:33092611 PMID:33306821 PMID:34426522 PMID:34684524 More...
NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354
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Slc26a3
solute carrier family 26 member 3
ISO
ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to
ClinVar
PMID:8968745 PMID:9934985 PMID:28492532
NCBI chr 6:53,751,415...53,792,300
Ensembl chr 6:53,751,415...53,792,294
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Bckdha
branched chain keto acid dehydrogenase E1 subunit alpha
ISO
ClinVar Annotator: match by term: Maple syrup urine disease type 1A
OMIM ClinVar
PMID:1356170 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2060625 PMID:2241958 PMID:2703538 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350 PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16472748 PMID:16786533 PMID:17329260 PMID:17576681 PMID:17922217 PMID:18378174 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20301495 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32193832 PMID:32778825 PMID:32812330 PMID:33300147 PMID:33996492 PMID:34556729 PMID:34738771 More...
NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749
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Bckdhb
branched chain keto acid dehydrogenase E1 subunit beta
ISO
ClinVar Annotator: match by term: Maple syrup urine disease type 1A
ClinVar
PMID:8312380 PMID:9375800 PMID:10903343 PMID:11448970 PMID:11509994 PMID:12646665 PMID:14504270 PMID:14517957 PMID:14567968 PMID:15884622 PMID:16199547 PMID:16468966 PMID:16786533 PMID:17922217 PMID:18378174 PMID:18777518 PMID:19480318 PMID:19715473 PMID:20301495 PMID:20307994 PMID:20462274 PMID:21484869 PMID:22326532 PMID:22593002 PMID:22727569 PMID:24770567 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25381949 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26239723 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:27507644 PMID:27629047 PMID:27682710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29307017 PMID:29740478 PMID:29740775 PMID:30228974 PMID:30298499 PMID:31112740 PMID:31119508 PMID:31251765 PMID:31523617 PMID:31610500 PMID:31980395 PMID:32193832 PMID:32812330 PMID:33131499 PMID:33300147 PMID:33955723 PMID:34556729 PMID:35281663 More...
NCBI chr 8:93,725,277...93,907,799
Ensembl chr 8:93,725,275...93,907,798
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Dbt
dihydrolipoamide branched chain transacylase E2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease type 1A
ClinVar
PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 PMID:9621512 PMID:14517957 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 PMID:19480318 PMID:19823873 PMID:20570198 PMID:20639189 PMID:21098507 PMID:23757202 PMID:24033266 PMID:24394677 PMID:24772966 PMID:25255367 PMID:25525159 PMID:25741868 PMID:26589311 PMID:27518768 PMID:28417071 PMID:28492532 PMID:28497172 PMID:31980395 PMID:32151765 PMID:32778825 PMID:32812330 PMID:33123633 PMID:34069211 PMID:36361642 More...
NCBI chr 2:207,166,660...207,195,528
Ensembl chr 2:207,166,652...207,195,525
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Bckdhb
branched chain keto acid dehydrogenase E1 subunit beta
ISO
ClinVar Annotator: match by term: BCKDHB-related condition | ClinVar Annotator: match by term: Maple syrup urine disease type 1B
OMIM ClinVar
PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:10903343 PMID:11112664 PMID:11448970 PMID:11509994 PMID:12646665 PMID:14504270 PMID:14517957 PMID:14567968 PMID:14742428 PMID:15884622 PMID:16199547 PMID:16468966 PMID:16786533 PMID:17576681 PMID:17922217 PMID:18378174 PMID:18777518 PMID:19282776 PMID:19480318 PMID:19715473 PMID:20301495 PMID:20307994 PMID:20462274 PMID:21484869 PMID:22326532 PMID:22593002 PMID:22727569 PMID:24374108 PMID:24770567 PMID:24772966 PMID:24995870 PMID:25255367 PMID:25333063 PMID:25381949 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:27507644 PMID:27629047 PMID:27682710 PMID:28197878 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29307017 PMID:29740478 PMID:29740775 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31610500 PMID:31980395 PMID:32151765 PMID:32193832 PMID:32812330 PMID:33131499 PMID:33300147 PMID:33955723 PMID:34556729 More...
NCBI chr 8:93,725,277...93,907,799
Ensembl chr 8:93,725,275...93,907,798
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Dbt
dihydrolipoamide branched chain transacylase E2
ISO
ClinVar Annotator: match by term: Maple syrup urine disease type 2
OMIM ClinVar
PMID:1547285 PMID:1847055 PMID:1943690 PMID:1990841 PMID:2010537 PMID:8430702 PMID:9239422 PMID:9536098 PMID:9621512 PMID:11112664 PMID:14508502 PMID:14517957 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16579849 PMID:16786533 PMID:17576681 PMID:18378174 PMID:19480318 PMID:19823873 PMID:20307994 PMID:20570198 PMID:20639189 PMID:21098507 PMID:24033266 PMID:24394677 PMID:24516753 PMID:24772966 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:27518768 PMID:27578510 PMID:28417071 PMID:28492532 PMID:28497172 PMID:31119508 PMID:31319225 PMID:31980395 PMID:32151765 PMID:32193832 PMID:32812330 PMID:33083013 PMID:33123633 PMID:35799415 PMID:36361642 More...
NCBI chr 2:207,166,660...207,195,528
Ensembl chr 2:207,166,652...207,195,525
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19154
Nutritional and Metabolic Diseases
8558
disease of metabolism
8558
Metabolic Brain Diseases
1516
Metabolic Brain Diseases, Inborn
1385
maple syrup urine disease
104
Congenital Infantile Lactic Acidosis due to LAD Deficiency
2
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis
0
Maple Syrup Urine Disease, Type 1A
3
Maple Syrup Urine Disease, Type 1B
1
Maple Syrup Urine Disease, Type 2
1
Path 2
disease
19154
Developmental Disease
14697
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
13758
genetic disease
13375
inherited metabolic disorder
6644
amino acid metabolic disorder
1596
organic acidemia
389
maple syrup urine disease
104
Congenital Infantile Lactic Acidosis due to LAD Deficiency
2
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis
0
Maple Syrup Urine Disease, Type 1A
3
Maple Syrup Urine Disease, Type 1B
1
Maple Syrup Urine Disease, Type 2
1