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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:organic acidemia
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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 chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470 		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 protein/enoyl-coenzyme A hydratase ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 More... NCBI chr13:52,989,155...53,083,742
Ensembl chr13:52,989,155...53,083,717 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: 3MG CoA hydratase deficiency ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G Nfil3 nuclear factor, interleukin 3, regulated ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 ClinVar PMID:28492532 NCBI chr13:53,121,245...53,136,914
Ensembl chr13:53,121,245...53,135,109 		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 chr13:53,263,353...53,440,160
Ensembl chr13:53,263,348...53,440,160 		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 chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470 		JBrowse link
G Opa3 optic atrophy 3 ISO
IAGP		 ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
CTD Direct Evidence: marker/mechanism
OMIM:258501		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 7:18,962,314...18,980,742
Ensembl chr 7:18,962,259...18,990,468 		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 containing 39 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr 3:34,111,429...34,135,503
Ensembl chr 3:34,110,169...34,135,470 		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 chr 3:34,074,133...34,124,129
Ensembl chr 3:34,074,092...34,124,471 		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 caseinolytic peptidase B 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 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		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 C subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,530,508...101,551,056
Ensembl chr 7:101,512,922...101,551,056 		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 7:100,997,296...101,061,793
Ensembl chr 7:100,997,274...101,061,793 		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 7:100,518,953...100,581,368
Ensembl chr 7:100,518,959...100,581,314 		JBrowse link
G Arrb1 arrestin, beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,184,356...99,255,979
Ensembl chr 7:99,184,673...99,255,978 		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 7:100,935,521...100,951,474
Ensembl chr 7:100,912,241...100,951,458 		JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359 		JBrowse link
G Chrdl2 chordin-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,655,611...99,683,935
Ensembl chr 7:99,655,379...99,683,935 		JBrowse link
G Clpb ClpB caseinolytic peptidase B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		JBrowse link
G Coa4 cytochrome c oxidase assembly factor 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,186,307...100,189,579
Ensembl chr 7:100,186,278...100,189,576 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147 		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 7:100,152,218...100,182,834
Ensembl chr 7:100,150,923...100,164,167 		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 7:100,355,594...100,490,853
Ensembl chr 7:100,355,842...100,490,863 		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 7:100,757,836...100,933,613
Ensembl chr 7:100,742,070...100,933,612 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,507,551...101,519,974
Ensembl chr 7:101,507,538...101,519,995 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,489,195...101,506,397
Ensembl chr 7:101,489,195...101,506,401 		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 7:99,027,976...99,111,082
Ensembl chr 7:99,030,621...99,111,084 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,664,281...101,669,699
Ensembl chr 7:101,664,092...101,667,897 		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 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436 		JBrowse link
G Kcne3 potassium voltage-gated channel, Isk-related subfamily, gene 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,825,714...99,834,076
Ensembl chr 7:99,825,709...99,834,076 		JBrowse link
G Klhl35 kelch-like 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,112,328...99,123,229
Ensembl chr 7:99,115,211...99,123,229 		JBrowse link
G Krtap5-21 keratin associated protein 5-21 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:141,765,554...141,766,818
Ensembl chr 7:141,765,596...141,766,327 		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 7:101,555,044...101,561,110
Ensembl chr 7:101,555,111...101,575,882 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 (putative) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,808,484...99,810,138
Ensembl chr 7:99,808,484...99,810,572 		JBrowse link
G Mir139 microRNA 139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650 		JBrowse link
G Mir326 microRNA 326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,201,476...99,201,570
Ensembl chr 7:99,201,476...99,201,570 		JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,194,986...100,257,508
Ensembl chr 7:100,194,958...100,257,508 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:143,349,326...143,376,598
Ensembl chr 7:143,349,321...143,376,586 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,460,646...99,477,579
Ensembl chr 7:99,460,646...99,477,624 		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 7:101,583,169...101,664,166
Ensembl chr 7:101,583,318...101,664,171 		JBrowse link
G Or2at4 olfactory receptor family 2 subfamily AT member 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,384,352...99,385,302
Ensembl chr 7:99,379,480...99,385,606 		JBrowse link
G P2ry2 purinergic receptor P2Y, G-protein coupled 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,645,775...100,661,260
Ensembl chr 7:100,645,775...100,662,073 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y, G-protein coupled, 6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,586,837...100,628,528
Ensembl chr 7:100,586,837...100,623,856 		JBrowse link
G P4ha3 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,934,637...99,968,908
Ensembl chr 7:99,934,727...99,968,906 		JBrowse link
G Pde2a phosphodiesterase 2A, cGMP-stimulated ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,070,905...101,162,026
Ensembl chr 7:101,060,093...101,162,026
Ensembl chr 7:101,060,093...101,162,026 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,876,471...99,928,079
Ensembl chr 7:99,876,601...99,928,075 		JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933 		JBrowse link
G Plekhb1 pleckstrin homology domain containing, family B (evectins) member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,291,922...100,311,601
Ensembl chr 7:100,292,099...100,311,621 		JBrowse link
G Pold3 polymerase (DNA-directed), delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,731,317...99,770,709
Ensembl chr 7:99,731,318...99,770,772 		JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,975,944...100,021,103
Ensembl chr 7:99,975,944...100,021,514 		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 7:100,256,778...100,290,475
Ensembl chr 7:100,256,617...100,290,475 		JBrowse link
G Relt RELT tumor necrosis factor receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,668,344...101,721,712
Ensembl chr 7:101,668,344...101,714,676 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,569,461...99,630,537
Ensembl chr 7:99,569,461...99,629,655 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,127,103...99,132,916
Ensembl chr 7:99,127,103...99,132,945 		JBrowse link
G Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:98,994,583...99,002,321
Ensembl chr 7:98,994,583...99,002,446 		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 7:99,307,011...99,360,547
Ensembl chr 7:99,307,011...99,360,547 		JBrowse link
G Snord15a small nucleolar RNA, C/D box 15A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,131,992...99,132,139
Ensembl chr 7:99,131,992...99,132,139 		JBrowse link
G Spcs2 signal peptidase complex subunit 2 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,486,775...99,512,576
Ensembl chr 7:99,486,776...99,512,669 		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 7:100,966,293...100,995,833
Ensembl chr 7:100,966,293...100,995,833 		JBrowse link
G Tomt transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566 		JBrowse link
G Tpbgl trophoblast glycoprotein-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,273,274...99,276,310
Ensembl chr 7:99,273,289...99,276,310 		JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227 		JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639 		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 7:99,508,425...99,567,031
Ensembl chr 7:99,508,323...99,567,029 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:25531304 PMID:25741868 PMID:27208207 More... NCBI chr 6:83,028,247...83,031,552
Ensembl chr 6:83,028,247...83,032,254 		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 6:83,011,186...83,029,547
Ensembl chr 6:83,011,154...83,029,543 		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 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497 		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 caseinolytic peptidase B 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 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		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-Coenzyme A 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 chr17:13,161,929...13,179,612
Ensembl chr17:13,161,777...13,179,634 		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 chr17:12,337,372...12,438,536
Ensembl chr17:12,337,591...12,438,532 		JBrowse link
G Airn antisense Igf2r RNA 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 chr17:12,960,198...13,078,771
Ensembl chr17:12,960,198...13,079,023 		JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Dynlt1b dynein light chain Tctex-type 1B 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 chr17:6,697,511...6,703,695
Ensembl chr17:6,697,511...6,703,695 		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 chr17:7,005,530...7,050,179
Ensembl chr17:7,005,440...7,050,183 		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 chr17:7,957,401...8,046,158
Ensembl chr17:7,957,401...8,046,134 		JBrowse link
G Gtf2h5 general transcription factor IIH, polypeptide 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 chr17:6,130,103...6,135,763
Ensembl chr17:6,130,061...6,136,792 		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 chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		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 chr17:12,446,508...12,537,683
Ensembl chr17:12,446,508...12,537,683 		JBrowse link
G Mas1 MAS1 oncogene 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 chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030 		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 chr17:13,130,232...13,136,674
Ensembl chr17:13,130,236...13,135,232 		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 chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272 		JBrowse link
G Pnldc1 poly(A)-specific ribonuclease (PARN)-like 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 chr17:13,107,610...13,129,489
Ensembl chr17:13,107,616...13,129,117 		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 chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248 		JBrowse link
G Rsph3a radial spoke 3A homolog (Chlamydomonas) 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 chr17:8,164,446...8,198,388
Ensembl chr17:8,164,446...8,198,656 		JBrowse link
G Serac1 serine active site containing 1 ISO
IAGP		 ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome
CTD Direct Evidence: marker/mechanism
OMIM:614739		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016 		JBrowse link
G Slc22a1 solute carrier family 22 (organic cation transporter), 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 chr17:12,867,761...12,894,725
Ensembl chr17:12,867,756...12,894,716 		JBrowse link
G Slc22a2 solute carrier family 22 (organic cation transporter), 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 chr17:12,803,076...12,847,376
Ensembl chr17:12,803,019...12,847,375 		JBrowse link
G Slc22a3 solute carrier family 22 (organic cation transporter), 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 chr17:12,638,859...12,726,591
Ensembl chr17:12,637,847...12,726,591 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial 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 chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		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 chr17:6,925,633...7,005,449
Ensembl chr17:6,926,492...7,005,443 		JBrowse link
G Tagap T cell activation Rho GTPase 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 chr17:8,144,832...8,153,729
Ensembl chr17:8,144,832...8,153,729 		JBrowse link
G Tcp1 t-complex protein 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 chr17:13,135,216...13,143,954
Ensembl chr17:13,134,588...13,143,954 		JBrowse link
G Tmem181a transmembrane protein 181A 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 chr17:6,307,001...6,358,589
Ensembl chr17:6,307,135...6,358,589 		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 chr17:6,156,528...6,290,912
Ensembl chr17:6,156,712...6,301,403 		JBrowse link
G Wtap WT1 associating 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 chr17:13,185,686...13,211,430
Ensembl chr17:13,185,683...13,213,056 		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, sub-family 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:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		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:72,937,958...72,954,945
Ensembl chr  X:72,935,048...72,965,476 		JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 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:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G Atp6ap1 ATPase, H+ transporting, lysosomal 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:73,340,753...73,348,297
Ensembl chr  X:73,340,703...73,348,327 		JBrowse link
G Avpr2 arginine 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:72,935,371...72,938,034
Ensembl chr  X:72,935,708...72,939,108 		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:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781 		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:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		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:74,460,234...74,499,307
Ensembl chr  X:74,460,234...74,497,607 		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 chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555 		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:74,448,452...74,460,190
Ensembl chr  X:74,448,452...74,460,190 		JBrowse link
G Ctag2l2 CTAG2 like 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:73,784,533...73,785,794
Ensembl chr  X:73,784,533...73,785,794 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin 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:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		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:73,316,823...73,325,939
Ensembl chr  X:73,316,823...73,325,943 		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:72,682,995...72,687,120
Ensembl chr  X:72,683,025...72,687,120 		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:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		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:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F8a factor 8-associated gene 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:72,271,912...72,274,401
Ensembl chr  X:72,271,897...72,274,401 		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:73,427,816...73,436,856
Ensembl chr  X:73,428,325...73,436,878 		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:73,356,589...73,363,761
Ensembl chr  X:73,356,639...73,363,755 		JBrowse link
G Fkbp1a FK506 binding protein 1a IAGP OMIM:302060 MouseDO NCBI chr 2:151,384,403...151,403,611
Ensembl chr 2:151,384,403...151,403,612 		JBrowse link
G Flna filamin, alpha 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:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		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:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked 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:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gab3 growth factor receptor bound protein 2-associated 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:74,032,151...74,128,511
Ensembl chr  X:74,010,449...74,129,064 		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:73,348,618...73,355,473
Ensembl chr  X:73,348,604...73,355,468 		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:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G H2ab3 H2A.B variant histone 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:119,222,279...119,222,923
Ensembl chr  X:119,222,445...119,222,792 		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:72,480,921...72,502,635
Ensembl chr  X:72,480,921...72,502,650 		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:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G Idh3g isocitrate dehydrogenase 3 (NAD+), 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:72,822,569...72,830,471
Ensembl chr  X:72,822,569...72,830,503 		JBrowse link
G Ikbkg inhibitor of kappaB kinase 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:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		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:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		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:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		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:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G Magea5 MAGE family member A5 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:153,836,057...153,846,147
Ensembl chr  X:153,836,057...153,846,141 		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:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mest mesoderm specific transcript IAGP OMIM:302060 MouseDO NCBI chr 6:30,733,505...30,783,580
Ensembl chr 6:30,723,546...30,748,464 		JBrowse link
G Mpp1 membrane protein, palmitoylated 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:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		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:74,454,048...74,460,190
Ensembl chr  X:74,454,050...74,460,194 		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:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		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:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) 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:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		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:72,836,963...72,868,649
Ensembl chr  X:72,836,965...72,868,575 		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:73,372,644...73,388,295
Ensembl chr  X:73,372,672...73,388,295 		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:72,800,564...72,816,116
Ensembl chr  X:72,800,696...72,816,120 		JBrowse link
G Pnck pregnancy upregulated non-ubiquitously expressed 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:72,699,598...72,703,723
Ensembl chr  X:72,699,600...72,703,723 		JBrowse link
G Pnma3 paraneoplastic antigen MA3 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:72,108,393...72,111,797
Ensembl chr  X:72,108,393...72,111,797 		JBrowse link
G Pnma5 paraneoplastic antigen family 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:72,077,587...72,083,315
Ensembl chr  X:72,077,587...72,080,709 		JBrowse link
G Pnma6e PNMA family member 6E 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:72,438,793...72,442,418
Ensembl chr  X:72,440,045...72,442,342 		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:74,615,651...74,621,837
Ensembl chr  X:74,615,652...74,621,837 		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:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		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:73,314,463...73,316,741
Ensembl chr  X:73,314,418...73,316,741 		JBrowse link
G Slc10a3 solute carrier family 10 (sodium/bile acid cotransporter 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:73,412,823...73,416,955
Ensembl chr  X:73,412,823...73,416,955 		JBrowse link
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), 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:72,716,739...72,726,108
Ensembl chr  X:72,716,756...72,726,108 		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:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Srpk3 serine/arginine-rich protein specific 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:72,818,011...72,822,531
Ensembl chr  X:72,818,011...72,822,531 		JBrowse link
G Ssr4 signal sequence receptor, delta 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:72,830,778...72,834,432
Ensembl chr  X:72,830,634...72,834,436 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO
IAGP		 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:302060
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 More... NCBI chr  X:73,325,498...73,340,182
Ensembl chr  X:73,325,518...73,333,757 		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:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		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:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		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...
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:72,477,311...72,478,949
Ensembl chr  X:72,477,311...72,478,950 		JBrowse link
G Ubl4a ubiquitin-like 4A 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:73,409,324...73,412,154
Ensembl chr  X:73,409,324...73,416,824 		JBrowse link
G Vbp1 von Hippel-Lindau 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:74,557,903...74,578,552
Ensembl chr  X:74,557,905...74,578,548 		JBrowse link
G Zfp185 zinc finger protein 185 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:72,030,860...72,075,149
Ensembl chr  X:72,030,945...72,075,149 		JBrowse link
G Zfp92 zinc finger protein 92 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:72,454,555...72,473,980
Ensembl chr  X:72,454,702...72,471,991 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9030548 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21785126 More... NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr12:31,381,561...31,401,470
Ensembl chr12:31,381,276...31,401,452 		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 chr12:31,483,141...31,523,921
Ensembl chr12:31,440,870...31,523,916 		JBrowse link
glutaric acidemia I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AB124611 cDNA sequence AB124611 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,437,410...21,456,629
Ensembl chr 9:21,437,472...21,456,629 		JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain IGI RGD PMID:15840571 RGD:10047115 NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237 		JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:22,038,023...22,047,042
Ensembl chr 9:22,038,023...22,047,007 		JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,746,806...21,748,643
Ensembl chr 9:21,746,806...21,748,643 		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 8:85,733,831...85,741,160
Ensembl chr 8:85,733,831...85,741,160 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A 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 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		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 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,458,163...21,500,763
Ensembl chr 9:21,458,190...21,503,919 		JBrowse link
G Ccdc159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,838,767...21,847,168
Ensembl chr 9:21,838,767...21,847,168 		JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:22,010,501...22,020,517
Ensembl chr 9:22,010,512...22,020,926 		JBrowse link
G Dand5 DAN domain family member 5, BMP antagonist ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 8:85,542,034...85,558,894
Ensembl chr 8:85,542,033...85,559,038 		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 8:85,798,106...85,801,790
Ensembl chr 8:85,798,386...85,801,791 		JBrowse link
G Dnase2a deoxyribonuclease II 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 8:85,635,384...85,638,332
Ensembl chr 8:85,635,189...85,649,544 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
G Ecsit ECSIT signalling integrator ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,982,731...21,997,648
Ensembl chr 9:21,983,542...21,996,734 		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 9:21,926,301...21,963,442
Ensembl chr 9:21,926,301...21,963,319 		JBrowse link
G Elof1 ELF1 homolog, elongation factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:22,024,282...22,028,491
Ensembl chr 9:22,024,285...22,028,468 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase, alpha 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 8:85,583,597...85,595,886
Ensembl chr 8:85,583,618...85,595,886 		JBrowse link
G Fbxw9 F-box and WD-40 domain protein 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 8:85,786,748...85,793,750
Ensembl chr 8:85,786,684...85,793,753 		JBrowse link
G Gadd45gip1 growth arrest and DNA-damage-inducible, gamma 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 8:85,558,911...85,562,111
Ensembl chr 8:85,558,151...85,562,111 		JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO
IAGP
IMP		 ClinVar Annotator: match by term: Glutaric aciduria, type 1
OMIM:231670
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 More... RGD:13515124 NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550 		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 8:85,744,558...85,751,916
Ensembl chr 8:85,744,560...85,751,910 		JBrowse link
G Gm14295 predicted gene 14295 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:176,489,972...176,512,508
Ensembl chr 2:176,490,405...176,503,016 		JBrowse link
G Gm2026 predicted gene 2026 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:175,757,045...175,778,388
Ensembl chr 2:175,757,124...175,772,096 		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 8:85,715,402...85,729,981
Ensembl chr 8:85,717,232...85,729,978 		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 8:85,387,960...85,389,481
Ensembl chr 8:85,387,960...85,389,483 		JBrowse link
G Junb jun B proto-oncogene ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		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 9:21,678,069...21,709,842
Ensembl chr 9:21,678,080...21,710,040 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:7795610 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11825066 More... NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		JBrowse link
G Lyl1 lymphoblastomic leukemia 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 8:85,428,051...85,432,876
Ensembl chr 8:85,428,078...85,431,569 		JBrowse link
G Man2b1 mannosidase 2, alpha B1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911 		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 8:85,638,482...85,672,811
Ensembl chr 8:85,638,532...85,663,988 		JBrowse link
G Mir199a-1 microRNA 199a-1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,407,791...21,407,860
Ensembl chr 9:21,407,791...21,407,860 		JBrowse link
G Nacc1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 8:85,397,106...85,414,528
Ensembl chr 8:85,397,108...85,414,531 		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 8:85,431,341...85,527,086
Ensembl chr 8:85,426,505...85,526,973 		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 9:21,901,167...21,914,268
Ensembl chr 9:21,901,167...21,913,930 		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 8:85,696,251...85,701,440
Ensembl chr 8:85,696,216...85,701,463 		JBrowse link
G Prkcsh protein kinase C substrate 80K-H ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,914,314...21,925,521
Ensembl chr 9:21,914,102...21,925,518 		JBrowse link
G Rab3d RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,818,787...21,829,623
Ensembl chr 9:21,818,787...21,829,488 		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 8:85,561,540...85,567,361
Ensembl chr 8:85,560,648...85,567,294 		JBrowse link
G Rgl3 ral guanine nucleotide dissociation stimulator-like 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,882,475...21,900,765
Ensembl chr 9:21,880,007...21,900,742 		JBrowse link
G Rnaseh2a ribonuclease H2, large 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 8:85,683,239...85,694,498
Ensembl chr 8:85,683,239...85,696,396 		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 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232 		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 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Spc24 SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,666,730...21,671,741
Ensembl chr 9:21,666,738...21,671,599 		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 9:21,867,049...21,869,566
Ensembl chr 9:21,867,051...21,869,560 		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 8:85,598,740...85,614,075
Ensembl chr 8:85,598,740...85,614,850 		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 9:21,504,018...21,507,266
Ensembl chr 9:21,504,018...21,507,266 		JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,418,676...21,421,530
Ensembl chr 9:21,418,849...21,421,548 		JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,832,305...21,838,831
Ensembl chr 9:21,832,304...21,838,852 		JBrowse link
G Tnpo2 transportin 2 (importin 3, karyopherin beta 2b) ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 8:85,763,502...85,784,214
Ensembl chr 8:85,763,544...85,784,212 		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 8:85,753,440...85,756,920
Ensembl chr 8:85,753,452...85,756,915 		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 8:85,412,953...85,426,437
Ensembl chr 8:85,412,936...85,426,437 		JBrowse link
G Wdr83 WD repeat domain containing 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 8:85,801,664...85,807,375
Ensembl chr 8:85,801,664...85,807,935 		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 8:85,807,592...85,808,968
Ensembl chr 8:85,807,369...85,808,968 		JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,499,978...21,504,131
Ensembl chr 9:21,499,978...21,504,124 		JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:21,966,705...21,982,707
Ensembl chr 9:21,966,707...21,982,672 		JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:72,635,912...72,646,409
Ensembl chr 8:72,635,863...72,649,571 		JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:85,833,797...85,849,724
Ensembl chr 8:85,835,182...85,849,724 		JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr17:33,031,125...33,049,235
Ensembl chr17:33,034,423...33,049,235 		JBrowse link
G Zfp867 zinc finger protein 867 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr11:59,352,023...59,363,353
Ensembl chr11:59,352,023...59,363,300 		JBrowse link
G Zfp872 zinc finger protein 872 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 9:22,099,462...22,113,419
Ensembl chr 9:22,099,386...22,113,419 		JBrowse link
G Zfp931 zinc finger protein 931 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 2:177,708,239...177,721,858
Ensembl chr 2:177,709,488...177,720,269 		JBrowse link
G Zfp958 zinc finger protein 958 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:4,663,170...4,682,572
Ensembl chr 8:4,663,167...4,680,231 		JBrowse link
G Zfp961 zinc finger protein 961 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:72,704,910...72,724,177
Ensembl chr 8:72,704,882...72,747,636 		JBrowse link
G Zfp997 zinc finger protein 997 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr13:66,258,188...66,271,523
Ensembl chr13:66,261,294...66,271,953 		JBrowse link
isovaleric acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ivd isovaleryl coenzyme A 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1310317 PMID:2063866 PMID:2318964 PMID:9536098 PMID:9665741 More... NCBI chr 2:118,692,475...118,713,388
Ensembl chr 2:118,692,435...118,713,390 		JBrowse link
maple syrup urine disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310022A10Rik RIKEN cDNA 2310022A10 gene ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,252,482...27,281,524
Ensembl chr 7:27,252,658...27,281,524 		JBrowse link
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611 		JBrowse link
G Agl amylo-1,6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:116,533,648...116,601,815
Ensembl chr 3:116,533,648...116,601,815 		JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		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 7:24,601,762...24,626,019
Ensembl chr 7:24,602,337...24,626,019 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		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 7:25,327,025...25,328,917
Ensembl chr 7:25,326,079...25,334,525 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Bcat2 branched chain aminotransferase 2, mitochondrial IMP
ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:246900 | OMIM:248600 | OMIM:615135		 CTD
MouseDO
RGD		 PMID:14755340 PMID:14755340 RGD:1300291 NCBI chr 7:45,219,773...45,239,134
Ensembl chr 7:45,219,577...45,239,135 		JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 More... RGD:737779, RGD:734637 NCBI chr 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406 		JBrowse link
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide ISO
IAGP		 DNA:deletion mutation:exon 1;
ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease
OMIM:246900 | OMIM:248600 | OMIM:615135		 ClinVar
MouseDO
RGD		 PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 More... RGD:1599466 NCBI chr 9:83,807,190...84,006,293
Ensembl chr 9:83,807,198...84,006,293 		JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar PMID:25741868 PMID:35205278 NCBI chr 7:127,503,245...127,508,836
Ensembl chr 7:127,503,254...127,509,393 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,410,537...25,418,460
Ensembl chr 7:25,410,531...25,418,513 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Cdc14a CDC14 cell division cycle 14A ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:116,066,202...116,222,390
Ensembl chr 3:116,066,202...116,222,394 		JBrowse link
G Ceacam10 CEA cell adhesion molecule 10 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,476,592...24,484,081
Ensembl chr 7:24,476,631...24,484,082 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:16,405,256...16,409,630
Ensembl chr 7:16,405,256...16,409,630 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,067,041...25,069,149
Ensembl chr 7:25,067,045...25,069,149 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375 		JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2f2 cytochrome P450, family 2, subfamily f, polypeptide 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,819,380...26,833,085
Ensembl chr 7:26,819,334...26,833,085 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,501,894...25,515,950
Ensembl chr 7:25,501,900...25,516,338 		JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 IAGP
ISO		 OMIM:246900 | OMIM:248600 | OMIM:615135
ClinVar Annotator: match by term: Maple syrup urine disease		 MouseDO
ClinVar		 PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 More... NCBI chr 3:116,306,776...116,343,630
Ensembl chr 3:116,306,719...116,343,630 		JBrowse link
G Dedd2 death effector domain-containing DNA binding protein 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,899,337...24,920,035
Ensembl chr 7:24,899,340...24,920,040 		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 chr12:31,381,561...31,401,470
Ensembl chr12:31,381,276...31,401,452 		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 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Dmac2 distal membrane arm assembly complex 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,318,839...25,324,975
Ensembl chr 7:25,318,839...25,324,976 		JBrowse link
G Dmrtc2 doublesex and mab-3 related transcription factor like family C2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,569,242...24,577,080
Ensembl chr 7:24,569,482...24,577,076 		JBrowse link
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:115,681,785...115,728,010
Ensembl chr 3:115,681,486...115,728,010 		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 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 7:26,858,083...26,866,227
Ensembl chr 7:26,858,083...26,866,227 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,967,306...27,968,593
Ensembl chr 7:27,967,306...27,968,697 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,977,152...27,978,916
Ensembl chr 7:27,977,164...27,978,914 		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 9:83,660,745...83,688,358
Ensembl chr 9:83,660,745...83,688,330 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,314,045...25,315,278
Ensembl chr 7:25,314,045...25,315,317 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
G Extl2 exostosin-like glycosyltransferase 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:115,801,083...115,822,666
Ensembl chr 3:115,801,111...115,822,666 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,868,293...27,878,701
Ensembl chr 7:27,869,135...27,878,694 		JBrowse link
G Fcgbp Fc fragment of IgG binding protein ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,770,661...27,820,289
Ensembl chr 7:27,770,661...27,820,287 		JBrowse link
G Gm38591 predicted gene, 38591 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,942,447...27,942,941 JBrowse link
G Gm9881 predicted gene 9881 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr16:90,963,733...90,968,496 JBrowse link
G Gpr88 G-protein coupled receptor 88 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:116,043,304...116,047,123
Ensembl chr 3:116,043,303...116,047,152 		JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,927,683...24,937,276
Ensembl chr 7:24,927,683...24,937,276 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600 		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 9:82,991,995...83,029,411
Ensembl chr 9:82,992,001...83,028,738 		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 7:25,420,586...25,455,695
Ensembl chr 7:25,420,590...25,454,182 		JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086 		JBrowse link
G Lamb1 laminin B1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,315,230...31,379,643
Ensembl chr12:31,315,233...31,379,643 		JBrowse link
G Lca5 Leber congenital amaurosis 5 (human) ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr 9:83,273,408...83,325,047
Ensembl chr 9:83,272,346...83,323,180 		JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		JBrowse link
G Lrrc39 leucine rich repeat containing 39 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:116,356,610...116,376,793
Ensembl chr 3:116,356,622...116,376,783 		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 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,564,044...24,569,180
Ensembl chr 7:24,564,045...24,569,366 		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 7:27,355,800...27,374,059
Ensembl chr 7:27,355,800...27,374,023 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342 		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 3:116,424,813...116,456,264
Ensembl chr 3:116,424,813...116,456,326 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,879,166...26,880,574
Ensembl chr 7:26,879,167...26,880,582 		JBrowse link
G Numbl numb-like ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411 		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 9:82,748,212...82,857,776
Ensembl chr 9:82,748,212...82,857,569 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151 		JBrowse link
G Ppm1k protein phosphatase 1K (PP2C domain containing) ISO
IAGP		 OMIM:246900 | OMIM:248600 | OMIM:615135
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Maple syrup urine disease, mild variant		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23086801 PMID:25741868 PMID:28492532 NCBI chr 6:57,483,487...57,512,537
Ensembl chr 6:57,483,487...57,512,453 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,000,784...25,003,565
Ensembl chr 7:25,000,836...25,003,557 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,741,127...27,749,517
Ensembl chr 7:27,741,132...27,749,526 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,867,858...26,878,308
Ensembl chr 7:26,867,849...26,878,321 		JBrowse link
G Rabac1 Rab acceptor 1 (prenylated) ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 7:24,669,175...24,672,153
Ensembl chr 7:24,669,177...24,672,179 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:28,050,114...28,052,123
Ensembl chr 7:28,050,077...28,052,580 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
G Rtca RNA 3'-terminal phosphate cyclase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:116,282,612...116,301,852
Ensembl chr 3:116,282,612...116,301,857 		JBrowse link
G S1pr1 sphingosine-1-phosphate receptor 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:115,504,082...115,508,704
Ensembl chr 3:115,504,082...115,508,721 		JBrowse link
G Sass6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:116,388,577...116,424,816
Ensembl chr 3:116,388,631...116,424,653 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,984,077...27,990,611
Ensembl chr 7:27,984,077...27,990,611 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,186,378...27,189,741
Ensembl chr 7:27,186,335...27,189,741 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,173,265...27,176,789
Ensembl chr 7:27,173,193...27,176,789 		JBrowse link
G Sh3bgrl2 SH3 domain binding glutamic acid-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 9:83,430,391...83,482,345
Ensembl chr 9:83,430,380...83,520,854 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,041,553...27,055,440
Ensembl chr 7:27,041,558...27,055,444 		JBrowse link
G Slc30a7 solute carrier family 30 (zinc transporter), member 7 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:115,732,622...115,801,079
Ensembl chr 3:115,732,622...115,801,055 		JBrowse link
G Slc35a3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:116,463,118...116,506,366
Ensembl chr 3:116,463,119...116,506,480 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:26,886,431...26,895,696
Ensembl chr 7:26,886,430...26,895,696 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111 		JBrowse link
G Supt5 suppressor of Ty 5, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:28,014,316...28,038,341
Ensembl chr 7:28,014,316...28,038,171 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		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 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,004,981...25,015,621
Ensembl chr 7:25,005,531...25,015,620 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:25,368,564...25,379,011
Ensembl chr 7:25,368,564...25,374,591 		JBrowse link
G Trmt13 tRNA methyltransferase 13 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:116,365,706...116,408,236
Ensembl chr 3:116,374,742...116,408,236 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,353,349...27,355,632
Ensembl chr 7:27,353,340...27,356,771 		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 9:83,716,704...83,754,442
Ensembl chr 9:83,716,742...83,754,442 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 5:129,731,659...129,747,152
Ensembl chr 5:129,731,657...129,747,163 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,919,272...24,929,688
Ensembl chr 7:24,920,850...24,926,932 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:24,775,099...24,782,917
Ensembl chr 7:24,771,992...24,782,917 		JBrowse link
G Zfp607a zinc finger protein 607A ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,559,922...27,606,709
Ensembl chr 7:27,556,952...27,580,250 		JBrowse link
G Zfp780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 7:27,658,560...27,678,768
Ensembl chr 7:27,658,560...27,678,596 		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 ketoacid dehydrogenase E1, alpha polypeptide 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 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406 		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 3:116,306,776...116,343,630
Ensembl chr 3:116,306,719...116,343,630 		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 ketoacid dehydrogenase E1, beta polypeptide 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 9:83,807,190...84,006,293
Ensembl chr 9:83,807,198...84,006,293 		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 3:116,306,776...116,343,630
Ensembl chr 3:116,306,719...116,343,630 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia		 CTD
ClinVar		 PMID:9030548 PMID:21785126 PMID:21841779 PMID:22421630 PMID:25741868 More... NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619 		JBrowse link
G Cavin1 caveolae associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr11:100,847,562...100,861,443
Ensembl chr11:100,847,559...100,861,713 		JBrowse link
G Crabp2 cellular retinoic acid binding protein II ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683 		JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518 		JBrowse link
G Gpd2 glycerol phosphate dehydrogenase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 2:57,127,690...57,260,731
Ensembl chr 2:57,127,647...57,260,731 		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 7:64,042,370...64,061,869
Ensembl chr 7:64,042,355...64,061,873 		JBrowse link
G Mmaa methylmalonic aciduria (cobalamin deficiency) type A ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 More... NCBI chr 8:79,990,226...80,021,637
Ensembl chr 8:79,990,227...80,021,566 		JBrowse link
G Mmab methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:9536098 PMID:12471062 PMID:15523652 PMID:15781192 PMID:16199547 More... NCBI chr 5:114,569,095...114,582,134
Ensembl chr 5:114,569,095...114,582,121 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO ClinVar Annotator: match by term: Methylmalonic aciduria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia		 CTD
ClinVar		 PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... NCBI chr17:41,245,576...41,272,880
Ensembl chr17:41,245,576...41,272,879 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:114,582,324...114,598,652
Ensembl chr 5:114,582,330...114,598,652 		JBrowse link
G Septin11 septin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 5:93,227,445...93,329,237
Ensembl chr 5:93,241,296...93,324,306 		JBrowse link
G Septin2 septin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 1:93,406,238...93,437,455
Ensembl chr 1:93,406,686...93,437,982
Ensembl chr 1:93,406,686...93,437,982 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Suclg2 succinate-Coenzyme A ligase, GDP-forming, beta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 6:95,449,992...95,695,799
Ensembl chr 6:95,449,990...95,695,781 		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 8:106,571,297...106,581,678
Ensembl chr 8:106,571,305...106,579,910 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Hcfc1 host cell factor C1 ISO
IAGP		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
CTD Direct Evidence: marker/mechanism
OMIM:309541		 OMIM
ClinVar
CTD
MouseDO		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		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:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		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:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		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:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		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:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		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:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		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 8:106,581,735...106,583,582
Ensembl chr 8:106,581,764...106,583,582 		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:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		JBrowse link
methylmalonic acidemia cblA type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700011L22Rik RIKEN cDNA 1700011L22 gene ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:79,937,059...79,975,212
Ensembl chr 8:79,937,060...79,975,199 		JBrowse link
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 8:77,976,995...78,244,628
Ensembl chr 8:77,976,995...78,244,582 		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 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		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 8:79,531,497...79,547,781
Ensembl chr 8:79,531,494...79,547,769 		JBrowse link
G Mmaa methylmalonic aciduria (cobalamin deficiency) type A ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 More... NCBI chr 8:79,990,226...80,021,637
Ensembl chr 8:79,990,227...80,021,566 		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 8:77,626,422...77,971,641
Ensembl chr 8:77,626,070...77,971,641 		JBrowse link
G Pou4f2 POU domain, class 4, transcription factor 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:79,159,638...79,163,276
Ensembl chr 8:79,159,639...79,163,274 		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 8:78,276,015...78,307,966
Ensembl chr 8:78,276,026...78,307,967 		JBrowse link
G Slc10a7 solute carrier family 10 (sodium/bile acid cotransporter family), member 7 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:79,235,957...79,460,641
Ensembl chr 8:79,235,975...79,460,632 		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 8:78,322,607...78,337,343
Ensembl chr 8:78,322,611...78,337,327 		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 8:78,939,911...79,120,955
Ensembl chr 8:78,939,926...79,120,955 		JBrowse link
G Zfp827 zinc finger protein 827 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr 8:79,753,754...79,920,397
Ensembl chr 8:79,755,066...79,920,395 		JBrowse link
methylmalonic acidemia cblB type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 More... NCBI chr 5:114,569,095...114,582,134
Ensembl chr 5:114,569,095...114,582,121 		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 chr 5:114,582,324...114,598,652
Ensembl chr 5:114,582,330...114,598,652 		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 antigen ISO
IAGP		 ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect
CTD Direct Evidence: marker/mechanism
OMIM:613646		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34978764 NCBI chr17:34,062,065...34,068,748
Ensembl chr17:34,062,065...34,068,748 		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, sub-family 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 chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187 		JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr12:28,487,794...28,602,941
Ensembl chr12:28,487,794...28,602,448 		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:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		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 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:277400		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G Mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 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 chr 2:50,169,893...50,189,033
Ensembl chr 2:50,169,893...50,186,813 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO 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 and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr 4:116,542,796...116,557,196
Ensembl chr 4:116,542,741...116,558,019 		JBrowse link
G Thap11 THAP domain containing 11 IAGP OMIM:277400 MouseDO NCBI chr 8:106,581,735...106,583,582
Ensembl chr 8:106,581,764...106,583,582 		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 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr 2:50,169,893...50,189,033
Ensembl chr 2:50,169,893...50,186,813 		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 chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920 		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 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 1:24,296,764...24,627,870
Ensembl chr 1:24,300,971...24,626,553 		JBrowse link
G Col9a1 collagen, type IX, alpha 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr 1:24,216,670...24,291,819
Ensembl chr 1:24,216,691...24,291,765 		JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382 		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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG		 CTD
OMIM
ClinVar		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		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, sub-family D member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187 		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 chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Man2b1 mannosidase 2, alpha B1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria 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 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase treatment ISO
IAGP
IMP		 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
CTD Direct Evidence: marker/mechanism
OMIM:251000
DNA:mutations:multiple:		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... RGD:13208535, RGD:13208534, RGD:11526224 NCBI chr17:41,245,576...41,272,880
Ensembl chr17:41,245,576...41,272,879 		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 2:92,205,043...92,211,563
Ensembl chr 2:92,205,021...92,211,562 		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 chr 1:44,158,032...44,183,931
Ensembl chr 1:44,158,117...44,183,930 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 1:44,095,031...44,118,906
Ensembl chr 1:44,095,032...44,118,906 		JBrowse link
G Clybl citrate lyase beta like ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:122,408,289...122,639,646
Ensembl chr14:122,419,116...122,639,646 		JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		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 chr14:123,128,272...123,151,173
Ensembl chr14:123,053,635...123,151,169 		JBrowse link
G Itgbl1 integrin, beta-like 1 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:123,897,331...124,215,173
Ensembl chr14:123,897,383...124,213,030 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 1:44,048,559...44,081,745
Ensembl chr 1:44,048,568...44,059,194 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:123,514,046...123,864,846
Ensembl chr14:123,514,046...123,864,556 		JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO
IAGP		 ClinVar Annotator: match by term: Propionic acidemia
CTD Direct Evidence: marker/mechanism
OMIM:606054		 OMIM
ClinVar
CTD
MouseDO		 PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 More... NCBI chr14:122,721,822...123,127,372
Ensembl chr14:122,771,736...123,128,512 		JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO ClinVar Annotator: match by term: Propionic acidemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 More... NCBI chr 9:100,864,085...100,916,993
Ensembl chr 9:100,864,085...100,916,951 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 1:44,143,060...44,158,844
Ensembl chr 1:44,145,706...44,157,968 		JBrowse link
G Slc10a2 solute carrier family 10, member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 8:5,133,219...5,155,287
Ensembl chr 8:5,133,219...5,155,351 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 1:44,125,773...44,141,650
Ensembl chr 1:44,125,773...44,141,601 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:122,342,290...122,397,015
Ensembl chr14:122,344,450...122,397,016 		JBrowse link
G Tmtc4 transmembrane and tetratricopeptide repeat containing 4 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:123,156,383...123,220,697
Ensembl chr14:123,156,383...123,221,447 		JBrowse link
G Tpp2 tripeptidyl peptidase II ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr 1:43,973,130...44,042,160
Ensembl chr 1:43,972,807...44,042,160 		JBrowse link
G Ubac2 ubiquitin associated domain containing 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:122,115,970...122,258,447
Ensembl chr14:122,116,032...122,258,446 		JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:31883641 NCBI chr13:30,724,295...30,729,299
Ensembl chr13:30,724,291...30,729,345 		JBrowse link
G Zic2 zinc finger protein of the cerebellum 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:122,712,796...122,717,740
Ensembl chr14:122,712,847...122,717,264 		JBrowse link
G Zic5 zinc finger protein of the cerebellum 5 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr14:122,696,572...122,703,127
Ensembl chr14:122,694,207...122,703,089 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        inherited metabolic disorder 5665
          amino acid metabolic disorder 1526
            organic acidemia 392
              3-methylglutaconic aciduria + 158
              combined malonic and methylmalonic acidemia 1
              glutaric acidemia I 69
              isovaleric acidemia 1
              maple syrup urine disease + 105
              methylmalonic acidemia + 50
              propionic acidemia + 21
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          inherited metabolic disorder 5665
            amino acid metabolic disorder 1526
              organic acidemia 392
                3-methylglutaconic aciduria + 158
                combined malonic and methylmalonic acidemia 1
                glutaric acidemia I 69
                isovaleric acidemia 1
                maple syrup urine disease + 105
                methylmalonic acidemia + 50
                propionic acidemia + 21
paths to the root