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 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   new 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

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:organic acidemia
go back to main search page
Accession:DOID:0060159 term browser browse the term
Definition:An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO)
Synonyms:exact_synonym: organic acid metabolism disorder;   organic aciduria
 xref: GARD:9433


show annotations for term's descendants           Sort by:
3-methylglutaconic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria ClinVar PMID:25741868 NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO ClinVar Annotator: match by term: 3 methylglutaconic aciduria type I | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 | ClinVar Annotator: match by term: 3MG CoA hydratase deficiency OMIM
ClinVar		 PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 More... NCBI chr14:2,398,456...2,546,329
Ensembl chr14:2,398,462...2,546,342 		JBrowse link
G NFIL3 nuclear factor, interleukin 3 regulated ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 ClinVar PMID:28492532 NCBI chr14:2,588,887...2,603,774
Ensembl chr14:2,588,896...2,603,255 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 ClinVar PMID:28492532 NCBI chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,296 		JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM
ClinVar		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 6:51,917,956...51,967,624
Ensembl chr 6:51,917,379...51,964,488 		JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V OMIM
ClinVar		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,685,934...6,689,913
Ensembl chr 9:6,685,939...6,689,256 		JBrowse link
G ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,238,043...7,301,085
Ensembl chr 9:7,233,911...7,301,073 		JBrowse link
G ARHGEF17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,766,701...7,826,513 JBrowse link
G ARRB1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,516,944...9,597,446
Ensembl chr 9:9,516,947...9,597,976 		JBrowse link
G ATG16L2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,346,973...7,360,189
Ensembl chr 9:7,347,002...7,365,625 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,393,610...8,512,843
Ensembl chr 9:8,393,612...8,512,848 		JBrowse link
G CHRDL2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,017,691...9,053,527
Ensembl chr 9:9,017,690...9,053,554 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		JBrowse link
G COA4 cytochrome c oxidase assembly factor 4 homolog ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,278,307...8,281,169
Ensembl chr 9:8,278,311...8,281,153 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,447 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,342,207...8,358,617
Ensembl chr 9:8,342,476...8,355,406 		JBrowse link
G FAM168A family with sequence similarity 168 member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,852,347...8,072,011
Ensembl chr 9:7,852,357...8,071,812 		JBrowse link
G FCHSD2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,366,516...7,619,960
Ensembl chr 9:7,366,523...7,608,469 		JBrowse link
G FOLR1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,753,513...6,760,433
Ensembl chr 9:6,757,040...6,760,402 		JBrowse link
G FOLR2 folate receptor 2 (fetal) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,785,308...6,790,466
Ensembl chr 9:6,785,303...6,790,465 		JBrowse link
G GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,653,955...9,738,186
Ensembl chr 9:9,653,596...9,740,286 		JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,586,602...6,596,423
Ensembl chr 9:6,488,808...6,591,333 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,793,971...6,807,286
Ensembl chr 9:6,793,069...6,808,028 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,810,716...8,822,191
Ensembl chr 9:8,810,720...8,822,494 		JBrowse link
G KLHL35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,640,460...9,651,924
Ensembl chr 9:9,640,524...9,651,760 		JBrowse link
G LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,674,045...6,680,067
Ensembl chr 9:6,672,475...6,680,053 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,838,375...8,840,607
Ensembl chr 9:8,838,102...8,840,765 		JBrowse link
G LOC100739359 olfactory receptor 2AT4-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,408,186...9,409,148 JBrowse link
G MIR139 microRNA mir-139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,175,314...7,175,381
Ensembl chr 9:7,175,308...7,175,385 		JBrowse link
G MIR326 microRNA mir-326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,581,944...9,582,034
Ensembl chr 9:9,581,944...9,582,034 		JBrowse link
G MRPL48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,221,641...8,267,251
Ensembl chr 9:8,219,967...8,268,536 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,799...2,372,361 		JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,334...9,334,918 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,591,943...6,662,966
Ensembl chr 9:6,591,945...6,662,085 		JBrowse link
G P2RY2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,672,294...7,695,085
Ensembl chr 9:7,672,403...7,695,163 		JBrowse link
G P2RY6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,708,452...7,759,721
Ensembl chr 9:7,749,375...7,759,721 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,627,365...8,681,804
Ensembl chr 9:8,627,413...8,667,772 		JBrowse link
G PAAF1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,279,618...8,334,526
Ensembl chr 9:8,278,905...8,335,121 		JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,136,637...7,227,966
Ensembl chr 9:7,136,644...7,227,964 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,686,976...8,761,721
Ensembl chr 9:8,689,481...8,761,709 		JBrowse link
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,808,144...6,831,636
Ensembl chr 9:6,807,623...6,812,578 		JBrowse link
G PLEKHB1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,103,497...8,117,819
Ensembl chr 9:8,102,056...8,117,815 		JBrowse link
G POLD3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,906,491...8,956,845
Ensembl chr 9:8,906,462...8,958,318 		JBrowse link
G PPME1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,512,791...8,605,273
Ensembl chr 9:8,513,141...8,605,268 		JBrowse link
G RAB6A RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,137,901...8,199,212
Ensembl chr 9:8,137,672...8,199,079 		JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496 		JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,488,756...6,587,426
Ensembl chr 9:6,488,806...6,587,324 		JBrowse link
G RNF169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,069,776...9,177,367
Ensembl chr 9:9,069,617...9,173,915 		JBrowse link
G RPS3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,612,939...9,630,404
Ensembl chr 9:9,624,990...9,630,401 		JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,042...9,794,483 		JBrowse link
G SLCO2B1 solute carrier organic anion transporter family member 2B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,433,978...9,474,248
Ensembl chr 9:9,436,492...9,476,662 		JBrowse link
G SPCS2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,280,517...9,305,606
Ensembl chr 9:9,280,631...9,305,599 		JBrowse link
G STARD10 StAR related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,302,811...7,346,703
Ensembl chr 9:7,302,814...7,332,770 		JBrowse link
G TPBGL trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,502,193...9,507,470 JBrowse link
G UCP2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547 		JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211 		JBrowse link
G XRRA1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,155,703...9,280,693
Ensembl chr 9:9,155,210...9,280,639 		JBrowse link
3-methylglutaconic aciduria type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25531304 PMID:25741868 PMID:27208207 More... NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886 		JBrowse link
G LOXL3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208207 PMID:28492532 NCBI chr 3:68,498,114...68,516,829
Ensembl chr 3:68,498,189...68,517,445 		JBrowse link
3-methylglutaconic aciduria type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 | ClinVar Annotator: match by term: TIMM50-related condition OMIM
ClinVar		 PMID:25741868 PMID:27573165 PMID:28492532 PMID:30190335 PMID:31058414 More... NCBI chr 6:48,126,470...48,134,664
Ensembl chr 6:48,126,991...48,139,357 		JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 More... NCBI chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,866 		JBrowse link
G AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:6,761,734...6,883,555
Ensembl chr 1:6,772,417...6,883,551 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128 		JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,556,083...8,562,865
Ensembl chr 1:8,556,059...8,563,676 		JBrowse link
G EZR ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,403,362...8,452,750
Ensembl chr 1:8,403,453...8,452,742 		JBrowse link
G FNDC1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,007,320...8,106,875
Ensembl chr 1:8,007,321...8,081,817 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,928,280...8,935,030
Ensembl chr 1:8,917,240...8,934,983 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548 		JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:6,891,255...7,049,784
Ensembl chr 1:6,891,265...7,049,775 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838 		JBrowse link
G MRPL18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,581,763...7,590,037
Ensembl chr 1:7,581,764...7,590,031 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,192...7,110,555 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,560,084...7,580,062
Ensembl chr 1:7,559,745...7,579,197 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872 		JBrowse link
G RSPH3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,243,177...8,265,816
Ensembl chr 1:8,244,040...8,265,659 		JBrowse link
G SERAC1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome OMIM
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 1:8,935,081...9,002,774
Ensembl chr 1:8,935,091...9,002,770 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146 		JBrowse link
G SLC22A3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,105,486...7,207,395
Ensembl chr 1:7,110,074...7,207,401 		JBrowse link
G SOD2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SYTL3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,452,822...8,546,637
Ensembl chr 1:8,453,283...8,546,530 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,209,298...8,217,993
Ensembl chr 1:8,209,314...8,219,630 		JBrowse link
G TCP1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,590,140...7,600,709
Ensembl chr 1:7,590,140...7,601,795 		JBrowse link
G TMEM181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,564,752...8,642,358
Ensembl chr 1:8,562,844...8,635,462 		JBrowse link
G TULP4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,650,811...8,891,596 JBrowse link
G WTAP WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:7,622,544...7,651,732
Ensembl chr 1:7,622,547...7,651,961 		JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO OMIM:302060 MouseDO NCBI chr17:33,910,047...33,935,212 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC102166335 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,150,593...125,152,014 JBrowse link
G LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,203,040...124,204,023 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MEST mesoderm specific transcript ISO OMIM:302060 MouseDO NCBI chr18:18,319,126...18,358,655
Ensembl chr18:18,327,536...18,345,843 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II OMIM
ClinVar		 PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,156,708...124,173,566 JBrowse link
combined malonic and methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia OMIM
ClinVar		 PMID:9030548 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21785126 More... NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186 		JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLD dihydrolipoamide dehydrogenase ISO 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 | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 OMIM
ClinVar		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		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 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728 		JBrowse link
glutaric acidemia I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO RGD PMID:15840571 RGD:10047115 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,206,159...70,209,855
Ensembl chr 2:70,206,162...70,208,229 		JBrowse link
G ANGPTL8 angiopoietin like 8 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,951,556...69,954,223
Ensembl chr 2:69,952,581...69,954,220 		JBrowse link
G BEST2 bestrophin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,242,820...66,248,908
Ensembl chr 2:66,242,999...66,248,784 		JBrowse link
G C2H19orf38 chromosome 2 C19orf38 homolog ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,584,550...69,600,760
Ensembl chr 2:69,585,883...69,600,756 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G CALR calreticulin ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,602,121...69,644,862
Ensembl chr 2:69,602,136...69,644,854 		JBrowse link
G CNN1 calponin 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,183,370...70,190,756
Ensembl chr 2:70,183,364...70,190,752 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,068,722...66,073,537 JBrowse link
G DHPS deoxyhypusine synthase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,303,375...66,307,773
Ensembl chr 2:66,303,370...66,307,769 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,854...69,972,316 		JBrowse link
G ECSIT ECSIT signaling integrator ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,154,861...70,170,762
Ensembl chr 2:70,154,843...70,170,744 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,114,475...70,134,348
Ensembl chr 2:70,117,060...70,134,348 		JBrowse link
G ELOF1 elongation factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,192,508...70,199,926
Ensembl chr 2:70,193,725...70,199,837 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,105,393...66,114,867
Ensembl chr 2:66,105,429...66,118,191 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,290,847...66,297,215
Ensembl chr 2:66,291,172...66,297,213 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,087,421...66,089,578
Ensembl chr 2:66,087,453...66,090,710 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 OMIM
ClinVar		 PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 More... NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,251,381...66,261,135
Ensembl chr 2:66,251,432...66,260,958 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,227,562...66,239,671
Ensembl chr 2:66,227,601...66,244,828 		JBrowse link
G IER2 immediate early response 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,909,638...65,912,491
Ensembl chr 2:65,909,651...65,912,445 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,896,116...69,925,194
Ensembl chr 2:69,896,120...69,924,919 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:7795610 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11825066 More... NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827 		JBrowse link
G LOC100517751 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:66,829,142...66,853,562 JBrowse link
G LOC100521431 zinc finger protein 791-like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:66,397,234...66,453,036
Ensembl chr 2:66,396,671...66,430,405 		JBrowse link
G LOC102167305 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:66,564,563...66,576,448 JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,950,608...65,956,423
Ensembl chr 2:65,952,519...65,955,011 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,329,051...66,347,051
Ensembl chr 2:66,329,045...66,348,056 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,153,109...66,184,303
Ensembl chr 2:66,153,115...66,184,289 		JBrowse link
G MIR199A-2 microRNA mir-199a-2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,558,051...69,558,130
Ensembl chr 2:69,558,050...69,558,131 		JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,920,352...65,938,840
Ensembl chr 2:65,922,126...65,938,759 		JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,954,808...66,056,591
Ensembl chr 2:65,954,811...66,056,567 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,088,119...70,097,027
Ensembl chr 2:70,087,887...70,096,924 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,073,061...70,087,990
Ensembl chr 2:70,073,067...70,087,796 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,097,424...70,114,460
Ensembl chr 2:70,097,444...70,114,446 		JBrowse link
G RAB3D RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,023,470...70,035,679
Ensembl chr 2:70,026,181...70,035,680 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,090,089...66,096,477
Ensembl chr 2:66,084,668...66,096,329 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697 		JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295 		JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,884,304...69,890,314
Ensembl chr 2:69,880,583...69,890,255 		JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,914,132...65,917,075
Ensembl chr 2:65,914,127...65,917,070 		JBrowse link
G SWSAP1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,060,186...70,061,989
Ensembl chr 2:70,060,193...70,063,261 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:1951469 PMID:8900227 PMID:8900228 PMID:9536098 PMID:9600243 More... NCBI chr 2:66,118,439...66,133,454
Ensembl chr 2:66,128,492...66,131,963 		JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,649,670...69,652,369
Ensembl chr 2:69,649,712...69,652,362 		JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,573,128...69,576,421
Ensembl chr 2:69,568,354...69,576,066 		JBrowse link
G TMEM205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,036,929...70,039,801
Ensembl chr 2:70,036,931...70,039,730 		JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,267,776...66,288,763
Ensembl chr 2:66,271,496...66,288,264 		JBrowse link
G TRIR telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,262,377...66,265,427
Ensembl chr 2:66,262,424...66,265,426 		JBrowse link
G TRMT1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,940,122...65,949,324
Ensembl chr 2:65,940,125...65,949,324 		JBrowse link
G TSPAN16 tetraspanin 16 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,999,179...70,015,489
Ensembl chr 2:69,999,118...70,014,753 		JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,307,652...66,312,839
Ensembl chr 2:66,307,653...66,312,844 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:66,312,920...66,328,000
Ensembl chr 2:66,325,992...66,328,004 		JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:69,644,000...69,649,691
Ensembl chr 2:69,641,052...69,649,824 		JBrowse link
G ZNF653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:70,136,777...70,154,458
Ensembl chr 2:70,136,443...70,154,458 		JBrowse link
isovaleric acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:1310317 PMID:2063866 PMID:2318964 PMID:9536098 PMID:9665741 More... NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,984...130,910,586 		JBrowse link
maple syrup urine disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,962,829...48,971,044
Ensembl chr 6:48,962,838...48,970,959 		JBrowse link
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:118,186,031...118,269,106
Ensembl chr 4:118,177,377...118,269,101 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,975,957...49,995,442
Ensembl chr 6:49,975,876...49,995,339 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633 		JBrowse link
G AXL AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,245,802...49,277,917
Ensembl chr 6:49,245,673...49,277,914 		JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,399,121...49,403,686
Ensembl chr 6:49,399,123...49,402,661 		JBrowse link
G B9D2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,349,704...49,358,420
Ensembl chr 6:49,349,708...49,366,012 		JBrowse link
G BCAT2 branched chain amino acid transaminase 2 ISO OMIM:246900 | OMIM:248600 | OMIM:615135
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:14755340 RGD:1300291 NCBI chr 6:54,107,682...54,123,595
Ensembl chr 6:54,107,684...54,142,790 		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		 ClinVar PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 More... NCBI chr 6:49,381,995...49,398,745
Ensembl chr 6:49,381,967...49,398,743 		JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta 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		 ClinVar PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 More... NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,755,743...86,017,650 		JBrowse link
G BCKDK branched chain keto acid dehydrogenase kinase ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar PMID:25741868 PMID:35205278 NCBI chr 3:17,375,628...17,380,925
Ensembl chr 3:17,375,354...17,380,880 		JBrowse link
G BLVRB biliverdin reductase B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,715,540...48,728,433
Ensembl chr 6:48,715,199...48,728,389 		JBrowse link
G C6H19orf47 chromosome 6 C19orf47 homolog ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,622,830...48,645,362
Ensembl chr 6:48,616,681...48,645,305 		JBrowse link
G CCDC97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,317,877...49,328,004
Ensembl chr 6:49,318,652...49,328,000 		JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,995,765...49,999,340 		JBrowse link
G CDC14A cell division cycle 14A ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,635,849...117,804,568
Ensembl chr 4:117,635,861...117,805,254 		JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,638,986...49,664,146
Ensembl chr 6:49,638,990...49,662,947 		JBrowse link
G CNFN cornifelin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,568,224...49,574,070
Ensembl chr 6:49,570,032...49,572,284 		JBrowse link
G COQ8B coenzyme Q8B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,919,000...48,939,194
Ensembl chr 6:48,919,520...48,938,111 		JBrowse link
G CYP2A19 cytochrome P450 family 2 subfamily A member 19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,056,579...49,064,111
Ensembl chr 6:49,056,578...49,064,107 		JBrowse link
G CYP2B6B cytochrome P450 family 2 subfamily B member 6B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334 		JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,014,912...49,032,207
Ensembl chr 6:49,017,008...49,029,388 		JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,221,361...49,235,335
Ensembl chr 6:49,221,763...49,235,330 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease		 ClinVar PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 More... NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,936,612 		JBrowse link
G DEDD2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,710,948...49,730,457
Ensembl chr 6:49,710,933...49,727,192 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,135,738...48,155,373
Ensembl chr 6:48,147,635...48,155,292 		JBrowse link
G DMAC2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,404,218...49,562,755
Ensembl chr 6:49,403,350...49,410,238 		JBrowse link
G DMRTC2 DMRT like family C2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:50,011,312...50,017,513
Ensembl chr 6:50,011,821...50,016,510 		JBrowse link
G DPH5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,269,030...117,307,803
Ensembl chr 4:117,269,074...117,306,188 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,305,837...48,314,523
Ensembl chr 6:48,305,849...48,314,514 		JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,002,266...49,010,042 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 NCBI chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,868...86,195,987 		JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,888...49,685,538 		JBrowse link
G ERICH4 glutamate rich 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,414,763...49,417,252
Ensembl chr 6:49,414,734...49,417,248 		JBrowse link
G EXOSC5 exosome component 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,373,378...49,381,875
Ensembl chr 6:49,373,379...49,382,034 		JBrowse link
G EXTL2 exostosin like glycosyltransferase 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,396,601...117,420,707
Ensembl chr 4:117,396,615...117,420,704 		JBrowse link
G FBL fibrillarin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,314,782...48,326,433
Ensembl chr 6:48,314,783...48,326,436 		JBrowse link
G FCGBP Fc gamma binding protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:48,331,753...48,375,099 JBrowse link
G GPR88 G protein-coupled receptor 88 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,616,596...117,623,752
Ensembl chr 4:117,618,733...117,619,884 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,840,671...49,901,656
Ensembl chr 6:49,845,656...49,902,080 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,690,319...49,700,735
Ensembl chr 6:49,690,370...49,701,189 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,666,726...48,672,977
Ensembl chr 6:48,666,728...48,674,346 		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 NCBI chr 1:86,954,468...86,987,465
Ensembl chr 1:86,954,465...86,987,460 		JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,280,296...49,315,967
Ensembl chr 6:49,280,211...49,315,669 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,943,207...48,962,101
Ensembl chr 6:48,943,357...48,961,438 		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 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		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 NCBI chr 1:86,596,967...86,685,073
Ensembl chr 1:86,597,283...86,685,068 		JBrowse link
G LEUTX leucine twenty homeobox ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,240,324...48,248,568 JBrowse link
G LGALS13 lectin, galactoside-binding, soluble, 13 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,205,158...48,209,859
Ensembl chr 6:48,205,158...48,209,867 		JBrowse link
G LIPE lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,543,671...49,560,126
Ensembl chr 6:49,540,708...49,560,125 		JBrowse link
G LOC100520248 EP300-interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,182,580...48,185,328
Ensembl chr 6:48,184,566...48,185,203 		JBrowse link
G LOC100522141 tetratricopeptide repeat protein 9B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,509,998...48,554,374
Ensembl chr 6:48,545,334...48,547,514 		JBrowse link
G LOC110260994 carcinoembryonic antigen-related cell adhesion molecule 21-like ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:50,147,745...50,158,717 JBrowse link
G LRRC39 leucine rich repeat containing 39 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,939,604...117,963,451
Ensembl chr 4:117,939,896...117,963,468 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,831,018...48,861,503
Ensembl chr 6:48,831,014...48,861,507 		JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:50,010,272...50,023,571
Ensembl chr 6:50,010,558...50,023,574 		JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,526,619...48,545,160
Ensembl chr 6:48,527,002...48,545,881 		JBrowse link
G MEGF8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,572,905...49,619,120
Ensembl chr 6:49,577,403...49,618,921 		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 4:118,049,094...118,090,374
Ensembl chr 4:118,049,105...118,090,354 		JBrowse link
G MIA MIA SH3 domain containing ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,986,232...49,010,042
Ensembl chr 6:48,986,733...48,988,432 		JBrowse link
G NUMBL NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,890,056...48,918,195
Ensembl chr 6:48,889,801...48,918,173 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,635,625...49,638,172
Ensembl chr 6:49,619,241...49,638,171 		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 NCBI chr 1:87,116,884...87,247,500
Ensembl chr 1:87,117,092...87,243,675 		JBrowse link
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,645,347...48,667,394
Ensembl chr 6:48,645,417...48,669,430 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,069,532...48,080,001
Ensembl chr 6:48,069,564...48,079,672 		JBrowse link
G POU2F2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,791,937...49,829,771
Ensembl chr 6:49,727,012...49,825,816 		JBrowse link
G PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23086801 PMID:25741868 PMID:28492532 NCBI chr 8:130,748,207...130,772,936
Ensembl chr 8:130,748,259...130,772,931 		JBrowse link
G PRR19 proline rich 19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,630,831...49,635,831
Ensembl chr 6:49,630,832...49,635,831 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,675,230...48,691,760
Ensembl chr 6:48,675,418...48,685,851 		JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,406,237...48,414,470
Ensembl chr 6:48,406,376...48,416,215 		JBrowse link
G RAB4B RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,989,080...49,010,042
Ensembl chr 6:48,989,172...48,999,608 		JBrowse link
G RABAC1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,933,439...49,936,376
Ensembl chr 6:49,933,434...49,936,372 		JBrowse link
G RPS16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,085,684...48,088,368
Ensembl chr 6:48,085,678...48,088,423 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:50,003,198...50,010,135
Ensembl chr 6:50,000,948...50,010,341 		JBrowse link
G RTCA RNA 3'-terminal phosphate cyclase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,852,776...117,875,630
Ensembl chr 4:117,852,766...117,875,684 		JBrowse link
G S1PR1 sphingosine-1-phosphate receptor 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,064,632...117,069,724
Ensembl chr 4:117,064,755...117,069,650 		JBrowse link
G SASS6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,985,599...118,049,129
Ensembl chr 4:117,985,759...118,050,040 		JBrowse link
G SELENOV selenoprotein V ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,162,428...48,167,438
Ensembl chr 6:48,162,428...48,167,437 		JBrowse link
G SERTAD1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,698,881...48,702,448
Ensembl chr 6:48,698,849...48,702,400 		JBrowse link
G SERTAD3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,709,064...48,713,113
Ensembl chr 6:48,709,065...48,713,086 		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 NCBI chr 1:86,416,281...86,481,805
Ensembl chr 1:86,358,483...86,481,776 		JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,813,163...48,826,461
Ensembl chr 6:48,813,168...48,826,457 		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 4:117,320,229...117,396,383
Ensembl chr 4:117,314,845...117,396,495 		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 4:118,102,800...118,153,144
Ensembl chr 4:118,103,006...118,153,159 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,971,868...48,982,369
Ensembl chr 6:48,971,339...48,982,443 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,729,839...48,812,799
Ensembl chr 6:48,729,419...48,812,796 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,095,001...48,125,120
Ensembl chr 6:48,095,041...48,125,120 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,126,470...48,134,664
Ensembl chr 6:48,126,991...48,139,357 		JBrowse link
G TMEM145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,619,540...49,628,234
Ensembl chr 6:49,619,547...49,628,239 		JBrowse link
G TMEM91 transmembrane protein 91 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 PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 More... NCBI chr 6:49,366,073...49,372,419
Ensembl chr 6:49,367,733...49,371,294 		JBrowse link
G TRMT13 tRNA methyltransferase 13 homolog ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,961,114...117,985,633
Ensembl chr 4:117,961,116...117,985,620 		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 NCBI chr 1:86,076,576...86,125,334
Ensembl chr 1:86,076,583...86,125,718 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222 		JBrowse link
G ZNF526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,702,837...49,708,524
Ensembl chr 6:49,699,431...49,708,523 		JBrowse link
G ZNF546 zinc finger protein 546 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:48,418,717...48,432,498
Ensembl chr 6:48,418,783...48,432,494 		JBrowse link
G ZNF574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 6:49,834,647...49,844,563 JBrowse link
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name Qualifiers 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 6:49,381,995...49,398,745
Ensembl chr 6:49,381,967...49,398,743 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1A ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,936,612 		JBrowse link
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name Qualifiers 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: Maple syrup urine disease type 1B ClinVar
OMIM		 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:11112664 More... NCBI chr 1:85,755,819...86,017,661
Ensembl chr 1:85,755,743...86,017,650 		JBrowse link
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name Qualifiers 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:1847055 PMID:1943690 PMID:1990841 PMID:2010537 PMID:8430702 More... NCBI chr 4:117,884,657...117,924,006
Ensembl chr 4:117,875,002...117,936,612 		JBrowse link
methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:9030548 PMID:21785126 PMID:21841779 PMID:22421630 PMID:25741868 More... NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186 		JBrowse link
G CAVIN1 caveolae associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr12:20,372,476...20,390,250
Ensembl chr12:20,372,476...20,389,509 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:93,388,198...93,393,861
Ensembl chr 4:93,388,092...93,394,155 		JBrowse link
G CYCS cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866 		JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr15:63,592,723...63,728,636
Ensembl chr15:63,619,762...63,728,633 		JBrowse link
G LOC100523624 methylmalonic aciduria type A protein, mitochondrial ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 More... NCBI chr 8:82,765,074...82,864,829
Ensembl chr 8:82,834,595...82,864,828
Ensembl chr 8:82,834,595...82,864,828 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:16697227 PMID:16752391 PMID:17823972 PMID:25741868 PMID:25763508 More... NCBI chr 1:143,993,714...144,022,372
Ensembl chr 1:143,993,394...144,024,879 		JBrowse link
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:9536098 PMID:12471062 PMID:15523652 PMID:15781192 PMID:16199547 More... NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,642 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,246...43,624,671 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
G SEPTIN11 septin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 8:72,543,641...72,679,173
Ensembl chr 8:72,543,621...72,679,171 		JBrowse link
G SEPTIN2 septin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr15:140,023,836...140,058,291
Ensembl chr15:140,024,049...140,058,289 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr13:48,650,851...49,090,521
Ensembl chr13:48,823,733...49,090,468 		JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPT centromere protein T ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr 6:28,450,568...28,456,620
Ensembl chr 6:28,450,569...28,456,229 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM
ClinVar		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G THAP11 THAP domain containing 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:25741868 PMID:28449119 NCBI chr 6:28,465,458...28,466,387
Ensembl chr 6:28,465,208...28,467,074 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
methylmalonic acidemia cblA type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:80,674,999...81,024,501
Ensembl chr 8:80,675,002...81,024,452 		JBrowse link
G EDNRA endothelin receptor type A ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853 		JBrowse link
G LOC100523624 methylmalonic aciduria type A protein, mitochondrial ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type OMIM
ClinVar		 PMID:9536098 PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 More... NCBI chr 8:82,765,074...82,864,829
Ensembl chr 8:82,834,595...82,864,828
Ensembl chr 8:82,834,595...82,864,828 		JBrowse link
G LSM6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:82,409,170...82,428,501
Ensembl chr 8:82,409,174...82,428,426 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412 		JBrowse link
G POU4F2 POU class 4 homeobox 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:82,044,443...82,046,377
Ensembl chr 8:82,043,643...82,047,675 		JBrowse link
G PRMT9 protein arginine methyltransferase 9 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:81,076,709...81,113,545
Ensembl chr 8:81,072,709...81,114,579 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655 		JBrowse link
G TMEM184C transmembrane protein 184C ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:81,115,140...81,140,465
Ensembl chr 8:81,084,639...81,140,413 		JBrowse link
G TTC29 tetratricopeptide repeat domain 29 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:81,746,479...81,981,617
Ensembl chr 8:81,746,489...81,982,760 		JBrowse link
G ZNF827 zinc finger protein 827 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:82,596,560...82,783,691
Ensembl chr 8:82,596,659...82,783,676 		JBrowse link
methylmalonic acidemia cblB type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type OMIM
ClinVar		 PMID:9536098 PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 More... NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type ClinVar PMID:15781192 PMID:16199547 PMID:16410054 PMID:20556797 PMID:23707710 More... NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD320 CD320 molecule ISO ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34978764 NCBI chr 2:70,961,897...70,970,289
Ensembl chr 2:70,965,672...70,970,288 		JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr 7:97,568,193...97,585,693
Ensembl chr 7:97,567,712...97,585,679 		JBrowse link
G DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 3:131,082,277...131,194,726
Ensembl chr 3:131,095,460...131,194,949 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 More... NCBI chr 1:49,869,184...49,977,984
Ensembl chr 1:49,868,613...49,977,965 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,642 		JBrowse link
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr15:2,499,080...2,517,361
Ensembl chr15:2,499,154...2,520,799 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442 		JBrowse link
G THAP11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chr 6:28,465,458...28,466,387
Ensembl chr 6:28,465,208...28,467,074 		JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 OMIM
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr15:2,499,080...2,517,361
Ensembl chr15:2,499,154...2,520,799 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr12:5,847,170...5,855,791
Ensembl chr12:5,847,187...5,854,882 		JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL19A1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 1:50,044,394...50,402,256
Ensembl chr 1:50,045,065...50,399,969 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 1:50,403,355...50,498,356
Ensembl chr 1:50,403,361...50,498,332 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 1:49,869,184...49,977,984
Ensembl chr 1:49,868,613...49,977,965 		JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar
OMIM		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 7:97,568,193...97,585,693
Ensembl chr 7:97,567,712...97,585,679 		JBrowse link
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:25085752 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27720647 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar NCBI chr 2:66,329,051...66,347,051
Ensembl chr 2:66,329,045...66,348,056 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 More... NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,642 		JBrowse link
G MMUT methylmalonyl-CoA mutase treatment ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency OMIM
ClinVar
RGD		 PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... RGD:13208535 NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,246...43,624,671 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:16,555,045...16,560,777
Ensembl chr 2:16,555,051...16,561,685 		JBrowse link
propionic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIVM basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:71,110,463...71,138,861
Ensembl chr11:71,110,857...71,138,863 		JBrowse link
G CCDC168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:71,047,611...71,069,998 JBrowse link
G CLYBL citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:68,507,828...68,768,322
Ensembl chr11:68,507,877...68,767,546 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322 		JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,446...70,422,192 		JBrowse link
G GGACT gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:15464417 PMID:19157943 PMID:22033733 PMID:28492532 NCBI chr11:69,287,685...69,349,540 JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:70,042,051...70,246,974
Ensembl chr11:70,042,232...70,246,968 		JBrowse link
G LOC100522678 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:31883641 NCBI chr 6:39,366,761...39,373,876
Ensembl chr 6:39,364,890...39,373,872 		JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:71,008,854...71,021,640
Ensembl chr11:71,008,846...71,020,730 		JBrowse link
G NALCN sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Propionic acidemia OMIM
ClinVar		 PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 More... NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,286,430 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Propionic acidemia OMIM
ClinVar		 PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 More... NCBI chr13:77,217,481...77,314,779
Ensembl chr13:77,217,428...77,316,568 		JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:71,095,116...71,110,490
Ensembl chr11:71,094,223...71,110,396 		JBrowse link
G SLC10A2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:71,328,801...71,348,779
Ensembl chr11:71,327,017...71,348,757 		JBrowse link
G TEX30 testis expressed 30 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:71,077,717...71,085,063
Ensembl chr11:71,077,728...71,084,646 		JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:68,407,834...68,469,956
Ensembl chr11:68,404,975...68,469,953 		JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039 		JBrowse link
G TPP2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:70,943,142...71,009,381
Ensembl chr11:70,943,141...71,009,627 		JBrowse link
G UBAC2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:68,144,835...68,319,771
Ensembl chr11:68,145,101...68,319,939 		JBrowse link
G ZIC2 Zic family member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:68,840,802...68,845,441
Ensembl chr11:68,840,631...68,845,378 		JBrowse link
G ZIC5 Zic family member 5 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr11:68,821,733...68,830,472
Ensembl chr11:68,821,735...68,830,540 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        inherited metabolic disorder 5434
          amino acid metabolic disorder 1490
            organic acidemia 376
              3-methylglutaconic aciduria + 155
              combined malonic and methylmalonic acidemia 1
              glutaric acidemia I 62
              isovaleric acidemia 1
              maple syrup urine disease + 100
              methylmalonic acidemia + 50
              propionic acidemia + 21
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          inherited metabolic disorder 5434
            amino acid metabolic disorder 1490
              organic acidemia 376
                3-methylglutaconic aciduria + 155
                combined malonic and methylmalonic acidemia 1
                glutaric acidemia I 62
                isovaleric acidemia 1
                maple syrup urine disease + 100
                methylmalonic acidemia + 50
                propionic acidemia + 21
paths to the root