Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
Accession:DOID:9269 term browser 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


show annotations for term's descendants           Sort by:
maple syrup urine disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... RGD:737779, RGD:734637 NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749 		JBrowse link
G 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 More... RGD:1599466 NCBI chr 8:93,725,277...93,907,799
Ensembl chr 8:93,725,275...93,907,798 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 2:207,166,660...207,195,528
Ensembl chr 2:207,166,652...207,195,525 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr 4:88,942,226...88,969,139
Ensembl chr 4:88,942,386...88,969,136 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G 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 		JBrowse link
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749 		JBrowse link
G 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 More... NCBI chr 8:93,725,277...93,907,799
Ensembl chr 8:93,725,275...93,907,798 		JBrowse link
G 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 More... NCBI chr 2:207,166,660...207,195,528
Ensembl chr 2:207,166,652...207,195,525 		JBrowse link
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 8:93,725,277...93,907,799
Ensembl chr 8:93,725,275...93,907,798 		JBrowse link
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 2:207,166,660...207,195,528
Ensembl chr 2:207,166,652...207,195,525 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  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
Term Annotations click to browse term
  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
paths to the root