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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:amino acid metabolic disorder
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Accession:DOID:9252 term browser browse the term
Definition:An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (DO)
Synonyms:exact_synonym: Amino Acid Metabolism, Inborn Error;   Amino Acid Metabolism, Inherited Disorders;   Congenital Amino Acidopathies;   Congenital Amino Acidopathy;   Inborn Amino Acidopathies;   amino acid metabolism, inborn errors;   inborn amino acid metabolism disorders;   inborn amino acidopathy;   inborn errors of amino acid metabolism;   inherited errors of amino acid metabolism
 primary_id: MESH:D000592
 xref: GARD:5793;   ICD10CM:E72.9;   ICD9CM:270;   NCI:C97090


show annotations for term's descendants           Sort by:
amino acid metabolic disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15024124 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10947204 NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G ARG1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ASL argininosuccinate lyase ISO Argininosuccinic Aciduria; DNA:mutations:multiple (human) RGD PMID:2263616 RGD:734610 NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G CTH cystathionine gamma-lyase ISO cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E RGD PMID:12574942 RGD:1600761 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609246 NCBI chr25:51,561,821...51,576,852
Ensembl chr25:51,553,404...51,576,570 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8651275 PMID:15651030 RGD:1601275 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:10515893 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GCSH glycine cleavage system protein H ISO protein:decreased activity:liver: RGD PMID:7070876 RGD:12904659 NCBI chr 5:70,745,591...70,757,292
Ensembl chr 5:70,745,258...70,756,830 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency DNA:deletion, frameshift_mutation:CDS:2-bp deletion in the serine-69 codon RGD PMID:8440722 RGD:1599500 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO isovaleric acidemia, OMIM:243500 RGD PMID:2063866 RGD:1600039 NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
G LOC477562 proline dehydrogenase 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12217952 PMID:17412540 RGD:1599206 NCBI chr26:29,039,007...29,059,722 JBrowse link
G MAT1A methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:7560086 PMID:8770875 NCBI chr 4:29,450,857...29,467,251
Ensembl chr 4:29,452,601...29,466,929 		JBrowse link
G NAGS N-acetylglutamate synthase ISO N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X RGD PMID:12594532 RGD:1600560 NCBI chr 9:19,344,073...19,349,395
Ensembl chr 9:19,344,902...19,349,207 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT RGD PMID:9385377 RGD:1600306 NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W RGD PMID:8411997 RGD:1600331 NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M RGD PMID:11055895 RGD:1600412 NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSPH phosphoserine phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14673469 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089 		JBrowse link
G SECISBP2 SECIS binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16228000 NCBI chr 1:96,879,840...96,927,583
Ensembl chr 1:96,880,369...96,933,862 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11544277 NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9804340 NCBI chr20:4,299,644...4,328,826
Ensembl chr20:4,300,386...4,328,768 		JBrowse link
2-aminoadipic 2-oxoadipic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria | ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: DHTKD1-related condition OMIM
ClinVar		 PMID:8069629 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23141293 More... NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:51,561,821...51,576,852
Ensembl chr25:51,553,404...51,576,570 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP L-2-hydroxyglutaricacidemia OMIA PMID:11708646 PMID:12892272 PMID:12892307 PMID:15715007 PMID:17475916 More... NCBI chr 8:26,721,501...26,760,411
Ensembl chr 8:26,723,309...26,760,984 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria ClinVar PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 More... NCBI chr26:30,002,732...30,006,696
Ensembl chr26:30,002,861...30,005,444 		JBrowse link
2-Methylbutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADSB acyl-CoA dehydrogenase short/branched chain ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase OMIM
ClinVar		 PMID:9536098 PMID:10832746 PMID:11013134 PMID:12837870 PMID:15615815 More... NCBI chr28:32,563,697...32,604,006
Ensembl chr28:32,563,671...32,601,063 		JBrowse link
G IKZF5 IKAROS family zinc finger 5 ISO ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase ClinVar PMID:28492532 NCBI chr28:32,547,300...32,564,471
Ensembl chr28:32,550,437...32,562,804 		JBrowse link
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR7A2 aldo-keto reductase family 7 member A2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,334,179...79,343,880
Ensembl chr 2:79,334,205...79,343,007 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820 		JBrowse link
G ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,944,774...75,992,586 JBrowse link
G C1QA complement C1q A chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977 		JBrowse link
G C1QB complement C1q B chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549 		JBrowse link
G C1QC complement C1q C chain ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577 		JBrowse link
G CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532
G CAPZB capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,182,668...79,311,529
Ensembl chr 2:79,181,851...79,311,518 		JBrowse link
G CDA cytidine deaminase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,305,328...78,327,229
Ensembl chr 2:78,304,726...78,327,247 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,268,540...78,275,789
Ensembl chr 2:78,267,912...78,294,463 		JBrowse link
G E2F2 E2F transcription factor 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,901,009...75,923,406
Ensembl chr 2:75,901,058...75,923,255 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		JBrowse link
G EIF4G3 eukaryotic translation initiation factor 4 gamma 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,822,686...78,149,943
Ensembl chr 2:77,822,688...78,149,443 		JBrowse link
G ELOA elongin A ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,730,467...75,746,438
Ensembl chr 2:75,732,725...75,741,999 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314 		JBrowse link
G EPHA8 EPH receptor A8 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,703,538...76,739,327
Ensembl chr 2:76,703,524...76,739,259 		JBrowse link
G EPHB2 EPH receptor B2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786 		JBrowse link
G FAM43B family with sequence similarity 43 member B ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532
G FUCA1 alpha-L-fucosidase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:9817922 PMID:17692550 PMID:23465862 PMID:28492532 NCBI chr 2:75,665,473...75,677,087
Ensembl chr 2:75,665,469...75,688,629 		JBrowse link
G GALE UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,704,012...75,708,206
Ensembl chr 2:75,704,558...75,708,169 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar Annotator: match by term: HMGCL DEFICIENCY | ClinVar Annotator: match by term: Hydroxymethylglutaric aciduria OMIM
ClinVar		 PMID:2443756 PMID:6085636 PMID:7479590 PMID:8617516 PMID:8798725 More... NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,073,553...76,108,763
Ensembl chr 2:76,077,022...76,105,433 		JBrowse link
G HP1BP3 heterochromatin protein 1 binding protein 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,164,239...78,203,032
Ensembl chr 2:78,164,173...78,201,555 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G HTR1D 5-hydroxytryptamine receptor 1D ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,198,343...76,200,005 JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,022,790...79,033,975
Ensembl chr 2:79,022,775...79,033,975 		JBrowse link
G ID3 inhibitor of DNA binding 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,880,659...75,881,786
Ensembl chr 2:75,880,657...75,882,010 		JBrowse link
G IFFO2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,636,428...79,685,207
Ensembl chr 2:79,636,302...79,680,696 		JBrowse link
G IFNLR1 interferon lambda receptor 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,431,842...75,447,917
Ensembl chr 2:75,437,617...75,444,768 		JBrowse link
G IL22RA1 interleukin 22 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,454,087...75,475,211
Ensembl chr 2:75,454,164...75,474,218 		JBrowse link
G KDM1A lysine demethylase 1A ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632 		JBrowse link
G KIF17 kinesin family member 17 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,224,838...78,266,612
Ensembl chr 2:78,224,461...78,266,610 		JBrowse link
G LACTBL1 lactamase beta like 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,392,492...76,410,641
Ensembl chr 2:76,397,773...76,410,641 		JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126 		JBrowse link
G LOC100684639 proline-rich nuclear receptor coactivator 2-like ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr22:3,585,510...3,587,147 JBrowse link
G LOC403934 cell division cycle 42 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211 		JBrowse link
G LOC478196 proproteinase E ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,223,095...77,228,755 JBrowse link
G LUZP1 leucine zipper protein 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,242,226...76,312,361
Ensembl chr 2:76,242,572...76,309,688 		JBrowse link
G LYPLA2 lysophospholipase 2 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,708,254...75,711,155
Ensembl chr 2:75,708,988...75,721,286 		JBrowse link
G MRTO4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,360,897...79,367,038
Ensembl chr 2:79,360,970...79,366,935 		JBrowse link
G MUL1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,394,013...78,402,032
Ensembl chr 2:78,394,040...78,425,482 		JBrowse link
G MYOM3 myomesin 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,481,191...75,529,559
Ensembl chr 2:75,483,897...75,528,402 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,040,206...79,102,792
Ensembl chr 2:79,041,105...79,102,820 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,068,865...79,102,818
Ensembl chr 2:79,041,105...79,102,820 		JBrowse link
G OTUD3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,843,627...78,875,215
Ensembl chr 2:78,847,177...78,875,121 		JBrowse link
G PINK1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123 		JBrowse link
G PITHD1 PITH domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,714,592...75,721,301
Ensembl chr 2:75,708,988...75,721,286 		JBrowse link
G PLA2G2C phospholipase A2 group IIC ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,609,852...78,700,940 JBrowse link
G PLA2G2D phospholipase A2 group IID ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,739,826...78,745,839
Ensembl chr 2:78,739,769...78,745,920 		JBrowse link
G PLA2G2E phospholipase A2 group IIE ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,834,820...78,838,058
Ensembl chr 2:78,831,309...78,841,821 		JBrowse link
G PLA2G2F phospholipase A2 group IIF ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,714,251...78,724,257
Ensembl chr 2:78,716,228...78,723,984 		JBrowse link
G PLA2G5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,762,851...78,781,642
Ensembl chr 2:78,762,852...78,781,983 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205 		JBrowse link
G RNF186 ring finger protein 186 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,915,131...78,916,909
Ensembl chr 2:78,915,339...78,916,037 		JBrowse link
G RPL11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,781,210...75,785,614
Ensembl chr 2:75,781,091...75,785,605 		JBrowse link
G SH2D5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,210,752...78,223,629
Ensembl chr 2:78,211,112...78,223,634 		JBrowse link
G SLC66A1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,318,200...79,334,047
Ensembl chr 2:79,318,345...79,320,885 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,587,561...75,601,099
Ensembl chr 2:75,587,584...75,598,925 		JBrowse link
G STPG1 sperm tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,236,800...75,286,872
Ensembl chr 2:75,237,141...75,287,953 		JBrowse link
G TCEA3 transcription elongation factor A3 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:75,998,154...76,040,461
Ensembl chr 2:75,998,214...76,040,413 		JBrowse link
G TEX46 testis expressed 46 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,380,574...76,383,485
Ensembl chr 2:76,379,803...76,383,411 		JBrowse link
G TMCO4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,930,982...79,022,247
Ensembl chr 2:78,937,040...79,022,250 		JBrowse link
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:79,403,336...79,536,385
Ensembl chr 2:79,403,351...79,536,208 		JBrowse link
G UBXN10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,670,300...78,680,361
Ensembl chr 2:78,674,817...78,675,671 		JBrowse link
G USP48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,401,101...77,484,139
Ensembl chr 2:77,379,440...77,484,089 		JBrowse link
G VWA5B1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:78,525,507...78,582,674
Ensembl chr 2:78,528,654...78,593,983 		JBrowse link
G WNT4 Wnt family member 4 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111 		JBrowse link
G ZBTB40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,767,650...76,841,353
Ensembl chr 2:76,769,571...76,818,727 		JBrowse link
G ZNF436 zinc finger protein 436 ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar PMID:28492532 NCBI chr 2:76,049,169...76,058,428
Ensembl chr 2:76,049,313...76,057,277 		JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,856,624...16,947,844
Ensembl chr34:16,856,633...16,946,422 		JBrowse link
G ABCF3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,082,911...17,089,942
Ensembl chr34:17,082,987...17,089,911 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,135,362...17,141,284
Ensembl chr34:17,132,853...17,152,901 		JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,071,199...17,080,445
Ensembl chr34:17,071,235...17,080,445 		JBrowse link
G B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,208,518...16,228,592
Ensembl chr34:16,225,002...16,226,147 		JBrowse link
G CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,149,064...17,151,371 JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,053,534...17,069,965
Ensembl chr34:17,053,343...17,068,389 		JBrowse link
G ECE2 endothelin converting enzyme 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,141,411...17,174,413
Ensembl chr34:17,141,494...17,148,444
Ensembl chr34:17,141,494...17,148,444 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,038,163...17,047,390
Ensembl chr34:17,038,203...17,046,928 		JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,194,588...17,214,498
Ensembl chr34:17,195,562...17,214,052 		JBrowse link
G FAM131A family with sequence similarity 131 member A ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,216,651...17,224,214
Ensembl chr34:17,216,864...17,223,872 		JBrowse link
G HTR3C 5-hydroxytryptamine receptor 3C ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,969,213...16,976,401 JBrowse link
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,583,683...16,625,778
Ensembl chr34:16,590,368...16,621,041 		JBrowse link
G KLHL6 kelch like family member 6 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,443,282...16,556,991
Ensembl chr34:16,446,944...16,504,549 		JBrowse link
G LAMP3 lysosomal associated membrane protein 3 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,092,172...16,126,563 JBrowse link
G LOC100856260 5-hydroxytryptamine receptor 3E ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,011,403...17,019,214
Ensembl chr34:17,011,555...17,018,941 		JBrowse link
G LOC478649 5-hydroxytryptamine receptor 3C-like ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,958,296...16,961,863
Ensembl chr34:16,958,083...16,961,857 		JBrowse link
G MAP6D1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,781,131...16,788,432 JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM
ClinVar		 PMID:9187484 PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 More... NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCF2L2 MCF.2 cell line derived transforming sequence-like 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,139,445...16,378,340
Ensembl chr34:16,142,177...16,380,259 		JBrowse link
G PARL presenilin associated rhomboid like ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545 		JBrowse link
G POLR2H RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,240,604...17,244,907
Ensembl chr34:17,240,624...17,244,904 		JBrowse link
G PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,180,119...17,189,298
Ensembl chr34:17,180,098...17,189,303 		JBrowse link
G THPO thrombopoietin ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
G VWA5B2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:17,125,012...17,135,285
Ensembl chr34:17,123,642...17,135,287 		JBrowse link
G YEATS2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 ClinVar PMID:11181649 PMID:15359379 PMID:22642865 PMID:28492532 NCBI chr34:16,654,672...16,777,493
Ensembl chr34:16,654,493...16,777,506 		JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency ClinVar PMID:28492532 NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2 OMIM
ClinVar		 PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 More... NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
3-methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 More... NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:9536098 PMID:11181649 PMID:16010683 PMID:16199547 PMID:16835865 More... NCBI chr 2:54,751,703...54,825,133
Ensembl chr 2:54,751,698...54,823,273 		JBrowse link
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 chr34:14,199,507...14,204,736
Ensembl chr34:14,199,675...14,204,687 		JBrowse link
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AUH AU RNA binding methylglutaconyl-CoA hydratase ISO ClinVar Annotator: match by term: 3 methylglutaconic aciduria type I | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 | ClinVar Annotator: match by term: 3MG CoA hydratase deficiency OMIM
ClinVar		 PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 More... NCBI chr 1:95,547,822...95,707,654
Ensembl chr 1:95,547,843...95,707,471 		JBrowse link
G NFIL3 nuclear factor, interleukin 3 regulated ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 ClinVar PMID:28492532 NCBI chr 1:95,508,224...95,510,452
Ensembl chr 1:95,508,764...95,510,152 		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 chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151 		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 chr34:14,199,507...14,204,736
Ensembl chr34:14,199,675...14,204,687 		JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr34:13,915,763...13,959,574
Ensembl chr34:13,905,434...13,959,340 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V OMIM
ClinVar		 PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 More... NCBI chr34:14,199,507...14,204,736
Ensembl chr34:14,199,675...14,204,687 		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 chr34:14,129,978...14,192,016
Ensembl chr34:14,130,017...14,191,370 		JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857 		JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558 		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 chr21:25,468,653...25,531,644
Ensembl chr21:25,443,386...25,531,165 		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 chr21:24,859,789...24,919,733
Ensembl chr21:24,862,295...24,919,667 		JBrowse link
G ARRB1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,261,020...23,304,448
Ensembl chr21:23,235,711...23,297,786 		JBrowse link
G ATG16L2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,404,667...25,433,456
Ensembl chr21:25,405,694...25,419,896 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,127,390...24,272,473
Ensembl chr21:24,127,598...24,272,657 		JBrowse link
G CBD108 beta-defensin 108B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr16:53,938,211...53,944,168 JBrowse link
G CHCHD8 coiled-coil-helix-coiled-coil-helix domain containing 8 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,379,195...24,417,941
Ensembl chr21:24,381,614...24,381,868 		JBrowse link
G CHRDL2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,670,257...23,702,788
Ensembl chr21:23,670,238...23,702,788 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236 		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 chr21:24,314,242...24,326,605
Ensembl chr21:24,314,248...24,338,253 		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 chr21:24,644,700...24,832,307
Ensembl chr21:24,768,108...24,827,784 		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 chr21:25,082,864...25,399,754
Ensembl chr21:25,072,161...25,397,717 		JBrowse link
G GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,070,875...23,157,078
Ensembl chr21:23,070,964...23,156,532 		JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,076,515...26,080,741
Ensembl chr21:26,076,700...26,078,612 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,900,308...25,914,527
Ensembl chr21:25,900,900...25,915,577 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,860,727...23,872,194
Ensembl chr21:23,871,648...23,871,947 		JBrowse link
G KLHL35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,159,703...23,170,899
Ensembl chr21:23,162,905...23,170,532 		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 chr21:25,981,170...25,986,942
Ensembl chr21:25,981,254...25,996,432 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,845,253...23,846,977
Ensembl chr21:23,845,268...23,846,537 		JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,975,547...25,981,097 JBrowse link
G LOC119865100 small nucleolar RNA SNORD15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532
G LOC476816 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,917,476...25,923,267 JBrowse link
G LOC609612 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,944,350...25,951,010 JBrowse link
G MIR139 microRNA mir-139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,597,025...25,597,081
Ensembl chr21:25,597,024...25,597,080 		JBrowse link
G MIR326 microRNA mir-326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,240,463...23,240,553
Ensembl chr21:23,240,463...23,240,553 		JBrowse link
G MRPL48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,391,538...24,456,860 JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514 		JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,456,424...23,484,872 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549 		JBrowse link
G OR2AT2 olfactory receptor family 2 subfamily AT member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,435,792...23,437,070
Ensembl chr21:23,436,132...23,437,070 		JBrowse link
G P2RY2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,987,568...25,009,754
Ensembl chr21:24,992,848...24,996,059 		JBrowse link
G P2RY6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,929,502...24,966,857
Ensembl chr21:24,929,771...24,930,757 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642 		JBrowse link
G PAAF1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,337,226...24,379,203
Ensembl chr21:24,338,333...24,379,074 		JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,542,030...25,635,661
Ensembl chr21:25,542,268...25,635,660 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306 		JBrowse link
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,895,628...25,900,338
Ensembl chr21:25,892,321...25,900,351 		JBrowse link
G PLEKHB1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,592,081...24,608,097
Ensembl chr21:24,593,030...24,608,035 		JBrowse link
G POLD3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,753,918...23,805,306
Ensembl chr21:23,754,278...23,802,104 		JBrowse link
G PPME1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,041,074...24,127,178
Ensembl chr21:24,042,240...24,127,081 		JBrowse link
G RAB6A RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,489,653...24,578,212
Ensembl chr21:24,492,359...24,576,524 		JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023 		JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,080,885...26,163,570
Ensembl chr21:26,079,692...26,163,493 		JBrowse link
G RNF169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,574,478...23,655,305
Ensembl chr21:23,579,370...23,655,290 		JBrowse link
G RPS3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,180,515...23,187,034
Ensembl chr21:23,180,515...23,187,034 		JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625 		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 chr21:23,347,593...23,393,480
Ensembl chr21:23,346,070...23,473,831 		JBrowse link
G SPCS2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,485,367...23,510,249
Ensembl chr21:23,484,965...23,510,249 		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 chr21:25,439,189...25,466,614
Ensembl chr21:25,433,208...25,466,583 		JBrowse link
G TPBGL trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,312,723...23,317,887
Ensembl chr21:23,314,357...23,315,535 		JBrowse link
G UCP2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128 		JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639 		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 chr21:23,510,403...23,573,862
Ensembl chr21:23,516,686...23,570,535 		JBrowse link
3-methylglutaconic aciduria type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25531304 PMID:25741868 PMID:27208207 More... NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399 		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 chr17:48,590,996...48,610,264
Ensembl chr17:48,591,768...48,610,392 		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 1:113,749,778...113,758,480
Ensembl chr 1:113,749,994...113,757,930 		JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 More... NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,709,437...49,837,848
Ensembl chr 1:49,709,741...49,837,091 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,058,804...48,066,389
Ensembl chr 1:48,058,804...48,066,609 		JBrowse link
G EZR ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,160,206...48,210,036
Ensembl chr 1:48,160,206...48,210,036 		JBrowse link
G FNDC1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,501,657...48,602,962
Ensembl chr 1:48,501,355...48,602,336 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,669,196...47,681,370
Ensembl chr 1:47,669,248...47,681,368 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277 		JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,590,615...49,702,289
Ensembl chr 1:49,548,274...49,702,289 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244 		JBrowse link
G MRPL18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,038,814...49,043,667
Ensembl chr 1:49,038,871...49,043,501 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,497,229...49,535,260
Ensembl chr 1:49,497,229...49,535,260 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,045,153...49,063,008
Ensembl chr 1:49,044,979...49,062,802 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764 		JBrowse link
G RSPH3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,329,171...48,349,924
Ensembl chr 1:48,329,211...48,349,088 		JBrowse link
G SERAC1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome OMIM
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,268,978...49,296,522 JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435 		JBrowse link
G SLC22A3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,407,949...49,496,627
Ensembl chr 1:49,407,966...49,496,620 		JBrowse link
G SOD2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SYTL3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,066,449...48,159,980
Ensembl chr 1:48,067,612...48,159,936 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188 		JBrowse link
G TCP1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,029,260...49,038,023
Ensembl chr 1:49,029,282...49,038,020 		JBrowse link
G TMEM181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,969,247...48,058,207
Ensembl chr 1:47,983,174...48,055,111 		JBrowse link
G TULP4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,727,642...47,952,818
Ensembl chr 1:47,791,993...47,951,710 		JBrowse link
G WTAP WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,976,523...49,004,536
Ensembl chr 1:48,976,499...49,003,961 		JBrowse link
5-Oxoprolinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: 5-Oxoprolinase deficiency | ClinVar Annotator: match by term: 5-alpha-oxoprolinase deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21651516 PMID:23430506 More... NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810 		JBrowse link
adenylosuccinase lyase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498 		JBrowse link
G ADSL adenylosuccinate lyase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency OMIM
ClinVar		 PMID:1302001 PMID:1405483 PMID:3234432 PMID:6150139 PMID:7334371 More... NCBI chr10:24,813,854...24,832,115 JBrowse link
G ANKRD54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,794,405...26,806,116
Ensembl chr10:26,794,426...26,806,131 		JBrowse link
G APOBEC3Z1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532
G APOBEC3Z3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,910,973...25,917,508
Ensembl chr10:25,911,291...25,913,808 		JBrowse link
G APOL5 apolipoprotein L5 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,504,282...28,524,541
Ensembl chr10:28,504,282...28,524,492 		JBrowse link
G APOL6 apolipoprotein L6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,536,085...28,556,766
Ensembl chr10:28,534,428...28,548,423 		JBrowse link
G ATF4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,528,880...25,531,018
Ensembl chr10:25,528,874...25,530,993 		JBrowse link
G BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,560,328...26,587,654
Ensembl chr10:26,560,494...26,574,052 		JBrowse link
G C10H22orf23 chromosome 10 C22orf23 homolog ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,707,503...26,714,808
Ensembl chr10:26,707,506...26,714,823 		JBrowse link
G C1QTNF6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,340,547...27,349,183
Ensembl chr10:27,340,623...27,348,494 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,381,446...25,493,680
Ensembl chr10:25,380,943...25,482,852 		JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885 		JBrowse link
G CARD10 caspase recruitment domain family member 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,055,293...27,080,109
Ensembl chr10:27,053,915...27,079,341 		JBrowse link
G CBX6 chromobox 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,967,305...25,973,489
Ensembl chr10:25,967,300...25,988,497 		JBrowse link
G CBX7 chromobox 7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,125,064...26,134,693
Ensembl chr10:26,125,189...26,128,285 		JBrowse link
G CDC42EP1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,016,415...27,020,700
Ensembl chr10:27,017,077...27,019,582 		JBrowse link
G CENPM centromere protein M ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,413,177...23,425,559
Ensembl chr10:23,412,393...23,425,981 		JBrowse link
G CHADL chondroadherin like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,992,848...24,006,492
Ensembl chr10:23,953,912...24,003,162 		JBrowse link
G CIMIP4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,495,451...27,510,203
Ensembl chr10:27,494,157...27,510,199 		JBrowse link
G CSDC2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,706,962...23,717,078
Ensembl chr10:23,709,176...23,711,093 		JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,541,645...27,566,907
Ensembl chr10:27,541,647...27,567,278 		JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,386,646...26,412,429
Ensembl chr10:26,393,033...26,411,624 		JBrowse link
G CYTH4 cytohesin 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,238,028...27,268,759
Ensembl chr10:27,239,405...27,268,823 		JBrowse link
G DDX17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,282,592...26,303,128
Ensembl chr10:26,282,598...26,301,633 		JBrowse link
G DESI1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,661,745...23,686,992
Ensembl chr10:23,661,745...23,681,331 		JBrowse link
G DMC1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,228,662...26,265,377
Ensembl chr10:26,230,428...26,264,820 		JBrowse link
G DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,372,364...24,373,715
Ensembl chr10:24,372,507...24,373,436 		JBrowse link
G DNAL4 dynein axonemal light chain 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,023,706...26,037,883
Ensembl chr10:26,030,850...26,035,690 		JBrowse link
G EIF3D eukaryotic translation initiation factor 3 subunit D ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,890,913...27,904,887
Ensembl chr10:27,890,938...27,904,886 		JBrowse link
G EIF3L eukaryotic translation initiation factor 3 subunit L ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,757,639...26,784,908
Ensembl chr10:26,757,639...26,785,008 		JBrowse link
G ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,185,104...27,191,461
Ensembl chr10:27,185,504...27,187,594 		JBrowse link
G ENTHD1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,226,464...25,331,715
Ensembl chr10:25,232,244...25,331,720 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G FAM227A family with sequence similarity 227 member A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,134,876...26,228,245
Ensembl chr10:26,139,315...26,213,928 		JBrowse link
G FAM83F family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,106,663...25,140,989
Ensembl chr10:25,108,003...25,140,989 		JBrowse link
G FOXRED2 FAD dependent oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,908,090...27,923,602
Ensembl chr10:27,908,629...27,923,304 		JBrowse link
G GALR3 galanin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,814,942...26,819,725
Ensembl chr10:26,814,942...26,816,727 		JBrowse link
G GCAT glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,821,121...26,827,496
Ensembl chr10:26,821,027...26,827,707 		JBrowse link
G GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,972,763...26,991,772
Ensembl chr10:26,972,760...26,991,689 		JBrowse link
G GRAP2 GRB2 related adaptor protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,156,233...25,220,106
Ensembl chr10:25,157,841...25,220,222 		JBrowse link
G GTPBP1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,074,969...26,103,520
Ensembl chr10:26,075,169...26,100,511 		JBrowse link
G H1-0 H1.0 linker histone ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,827,748...26,829,909
Ensembl chr10:26,829,089...26,829,673 		JBrowse link
G HMOX1 heme oxygenase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G IFT27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,688,742...27,707,343
Ensembl chr10:27,655,905...27,707,332 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775 		JBrowse link
G JOSD1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,103,874...26,115,728
Ensembl chr10:26,104,898...26,113,733 		JBrowse link
G KCNJ4 potassium inwardly rectifying channel subfamily J member 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,321,274...26,348,978
Ensembl chr10:26,347,140...26,348,486 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,439,280...27,447,961
Ensembl chr10:27,443,180...27,447,712 		JBrowse link
G KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,303,177...26,315,838
Ensembl chr10:26,297,635...26,315,826 		JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,000,008...24,021,883
Ensembl chr10:24,002,183...24,021,753 		JBrowse link
G LGALS1 galectin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646 		JBrowse link
G LGALS2 galectin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,012,534...27,015,935
Ensembl chr10:27,010,550...27,015,935 		JBrowse link
G LOC102156332 apolipoprotein L2-like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,126,272...28,137,982 JBrowse link
G LOC119873790 small nucleolar RNA U83B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532
G LOC119873791 small nucleolar RNA U83B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532
G LOC119873833 small nucleolar RNA SNORD43 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532
G MAFF MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,475,478...26,486,109
Ensembl chr10:26,476,851...26,485,931 		JBrowse link
G MB myoglobin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,573,819...28,583,526
Ensembl chr10:28,552,749...28,583,522 		JBrowse link
G MCHR1 melanin concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,526,687...24,560,948
Ensembl chr10:24,526,693...24,559,836 		JBrowse link
G MCM5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,721,421...28,738,457
Ensembl chr10:28,721,660...28,738,390 		JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816 		JBrowse link
G MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,082,616...27,098,994
Ensembl chr10:27,082,789...27,098,617 		JBrowse link
G MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,564,825...25,605,787
Ensembl chr10:25,568,053...25,570,413 		JBrowse link
G MICALL1 MICAL like 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,715,572...26,738,326
Ensembl chr10:26,717,322...26,738,850 		JBrowse link
G MIEF1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,534,231...25,548,565
Ensembl chr10:25,536,288...25,546,369 		JBrowse link
G MIR33A microRNA mir-33a ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,456,613...23,456,673
Ensembl chr10:23,456,613...23,456,673 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,465,007...27,469,788
Ensembl chr10:27,443,865...27,469,554 		JBrowse link
G MRTFA myocardin related transcription factor A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,561,161...24,759,586
Ensembl chr10:24,561,161...24,759,081 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,303,950...23,312,409
Ensembl chr10:23,304,354...23,396,068 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,597,296...27,672,199
Ensembl chr10:27,597,486...27,615,261 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,283,951...23,292,457
Ensembl chr10:23,283,933...23,292,638 		JBrowse link
G NOL12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,919,771...26,926,547 JBrowse link
G NPTXR neuronal pentraxin receptor ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,983,249...26,012,169
Ensembl chr10:25,988,906...26,008,258 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PDXP pyridoxal phosphatase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,945,751...26,952,234
Ensembl chr10:26,946,838...26,952,217 		JBrowse link
G PHETA2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,297,522...23,303,019 JBrowse link
G PHF5A PHD finger protein 5A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,798,854...23,809,024
Ensembl chr10:23,798,969...23,808,865 		JBrowse link
G PICK1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,595,301...26,614,170
Ensembl chr10:26,595,768...26,613,756 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087 		JBrowse link
G PMM1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,699,476...23,706,716
Ensembl chr10:23,700,387...23,706,547 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507 		JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,728,697...23,742,345
Ensembl chr10:23,728,998...23,741,349 		JBrowse link
G PVALB parvalbumin ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,655,896...27,674,309
Ensembl chr10:27,655,905...27,707,332 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,295,597...27,311,864
Ensembl chr10:27,295,640...27,311,397 		JBrowse link
G RANGAP1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,953,877...23,985,622
Ensembl chr10:23,953,912...24,003,162 		JBrowse link
G RASD2 RASD family member 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,626,761...28,637,861
Ensembl chr10:28,626,121...28,632,851 		JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:28,284,836...28,494,618
Ensembl chr10:28,192,683...28,489,114 		JBrowse link
G RBX1 ring-box 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,265,733...24,280,253
Ensembl chr10:24,266,408...24,280,235 		JBrowse link
G RPL3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,739,089...25,745,487
Ensembl chr10:25,739,089...25,762,501 		JBrowse link
G RPS19BP1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,518,543...25,521,806
Ensembl chr10:25,518,629...25,521,736 		JBrowse link
G SEPTIN3 septin 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,370,393...23,396,922
Ensembl chr10:23,371,558...23,396,205 		JBrowse link
G SGSM3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,759,714...24,803,333
Ensembl chr10:24,760,162...24,769,478 		JBrowse link
G SH3BP1 SH3 domain binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,953,993...26,966,417
Ensembl chr10:26,954,137...26,966,417 		JBrowse link
G SHISA8 shisa family member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,444,051...23,448,692 JBrowse link
G SLC16A8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,589,236...26,593,703
Ensembl chr10:26,589,236...26,593,483 		JBrowse link
G SLC25A17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,417,294...24,462,057
Ensembl chr10:24,417,155...24,461,964 		JBrowse link
G SMDT1 single-pass membrane protein with aspartate rich tail 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,293,713...23,296,889
Ensembl chr10:23,293,714...23,296,888 		JBrowse link
G SNU13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,622,897...23,631,526
Ensembl chr10:23,618,293...23,631,004 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,451,923...23,532,765
Ensembl chr10:23,452,561...23,518,689
Ensembl chr10:23,452,561...23,518,689 		JBrowse link
G SSTR3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,324,067...27,332,570
Ensembl chr10:27,329,174...27,330,451 		JBrowse link
G ST13 ST13 Hsp70 interacting protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,379,997...24,411,764
Ensembl chr10:24,379,997...24,411,766 		JBrowse link
G SUN2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,055,508...26,074,972
Ensembl chr10:26,055,536...26,074,434 		JBrowse link
G SYNGR1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,685,079...25,735,940
Ensembl chr10:25,687,633...25,713,300 		JBrowse link
G TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:25,623,381...25,657,630
Ensembl chr10:25,623,940...25,657,543 		JBrowse link
G TEF TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,852,551...23,878,353
Ensembl chr10:23,838,788...23,878,190 		JBrowse link
G TMEM184B transmembrane protein 184B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,424,014...26,473,885
Ensembl chr10:26,448,632...26,471,680 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,393,650...27,435,893
Ensembl chr10:27,397,123...27,435,908 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,430,960...23,434,972
Ensembl chr10:23,433,052...23,438,946 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393 		JBrowse link
G TOB2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,817,778...23,830,330
Ensembl chr10:23,826,437...23,827,447 		JBrowse link
G TOMM22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,116,635...26,118,692 JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083 		JBrowse link
G TST thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,474,101...27,486,603
Ensembl chr10:27,473,764...27,486,575 		JBrowse link
G TXN2 thioredoxin 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:27,947,647...27,960,634
Ensembl chr10:27,948,571...27,959,910 		JBrowse link
G WBP2NL WBP2 N-terminal like ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,333,420...23,368,234
Ensembl chr10:23,344,094...23,368,153 		JBrowse link
G XPNPEP3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:24,304,342...24,379,562
Ensembl chr10:24,307,091...24,379,448 		JBrowse link
G XRCC6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,637,905...23,661,618
Ensembl chr10:23,638,237...23,661,480 		JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131 		JBrowse link
adult-onset type II citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASS1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset ClinVar PMID:25741868 PMID:25741913 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia OMIM
ClinVar		 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 More... NCBI chr14:21,295,651...21,481,767
Ensembl chr14:21,296,512...21,482,236 		JBrowse link
AGAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,767,166...11,788,402
Ensembl chr30:11,767,064...11,788,398 		JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
G C30H15orf48 chromosome 30 C15orf48 homolog ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 Ensembl chr30:11,795,781...11,800,915
Ensembl chr30:11,795,781...11,800,915 		JBrowse link
G DUOX1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,556,024...11,588,203
Ensembl chr30:11,556,024...11,588,202 		JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716 		JBrowse link
G DUOXA1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,546,285...11,555,715
Ensembl chr30:11,547,014...11,555,110 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,541,849...11,546,019
Ensembl chr30:11,542,078...11,545,811 		JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency OMIM
ClinVar		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 More... NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G PATL2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,306,972...11,316,454
Ensembl chr30:11,307,492...11,316,427 		JBrowse link
G SHF Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,589,648...11,609,425
Ensembl chr30:11,590,211...11,609,837 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,827,719...11,859,413
Ensembl chr30:11,834,678...11,859,311 		JBrowse link
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,467,259...11,501,166
Ensembl chr30:11,467,253...11,500,641 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,233,709...11,305,454
Ensembl chr30:11,233,718...11,305,485 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,414,656...11,436,119
Ensembl chr30:11,414,737...11,436,113 		JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr30:11,363,995...11,408,494
Ensembl chr30:11,364,075...11,408,469 		JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II OMIM
ClinVar		 PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		JBrowse link
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCT dopachrome tautomerase ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:33100333 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346 		JBrowse link
G GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:11115845 PMID:11214907 PMID:26785811 PMID:28041643 More... NCBI chr  X:6,438,068...6,479,731
Ensembl chr  X:6,437,660...6,474,447 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:12664304 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29600982 NCBI chr26:20,131,658...20,157,532
Ensembl chr26:19,933,281...20,157,058 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 More... NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572 		JBrowse link
G TYR tyrosinase treatment ISO ClinVar Annotator: match by term: Albinism RGD
ClinVar		 PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 More... RGD:8694355 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 More... NCBI chr11:33,317,084...33,336,029
Ensembl chr11:33,317,121...33,335,498 		JBrowse link
alkaptonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABTB1 ankyrin repeat and BTB domain containing 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,753,031...1,760,424
Ensembl chr20:1,751,718...1,760,419 		JBrowse link
G ACAD11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,537,049...29,645,338
Ensembl chr23:29,538,555...29,645,176 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:3,155,754...3,205,307
Ensembl chr20:3,021,167...3,205,279 		JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,586,250...29,591,627
Ensembl chr23:29,589,767...29,590,819 		JBrowse link
G ACP3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,294,641...29,353,970
Ensembl chr23:29,294,843...29,343,499 		JBrowse link
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616 		JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:52,722...99,180
Ensembl chr20:61,349...99,160 		JBrowse link
G ASTE1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,233,165...28,244,036
Ensembl chr23:28,231,032...28,243,768 		JBrowse link
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,097,831...28,233,675
Ensembl chr23:28,066,639...28,235,215 		JBrowse link
G BFSP2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:30,334,080...30,394,202
Ensembl chr23:29,992,021...30,396,840 		JBrowse link
G C20H3orf22 chromosome 20 C3orf22 homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:752,614...758,180
Ensembl chr20:753,461...757,115 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G CCDC14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,958,752...27,009,159
Ensembl chr33:26,959,430...27,009,436 		JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087 		JBrowse link
G CDV3 CDV3 homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:30,464,103...30,483,633
Ensembl chr23:30,475,978...30,481,632 		JBrowse link
G CFAP100 cilia and flagella associated protein 100 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:565,571...619,536
Ensembl chr20:587,508...619,545 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:3,096,859...3,157,896
Ensembl chr20:3,097,395...3,157,888 		JBrowse link
G CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:871,137...1,120,433 JBrowse link
G CHST13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:723,380...746,935 JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,860,915...2,929,307
Ensembl chr20:2,916,624...2,929,303 		JBrowse link
G COL6A5 collagen type VI alpha 5 chain ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:27,596,450...27,726,246
Ensembl chr23:27,596,395...27,721,265 		JBrowse link
G COL6A6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:27,759,707...27,900,971
Ensembl chr23:27,759,103...27,900,154 		JBrowse link
G COPG1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,832,150...2,860,356
Ensembl chr20:2,832,198...2,860,320 		JBrowse link
G CPNE4 copine 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,621,511...29,077,743
Ensembl chr23:28,622,845...29,077,642 		JBrowse link
G CSTA cystatin A ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,477,789...25,489,123
Ensembl chr33:25,478,055...25,489,121 		JBrowse link
G DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,453,100...2,454,152
Ensembl chr20:2,453,297...2,453,650 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,676,686...25,684,270
Ensembl chr33:25,677,076...25,684,175 		JBrowse link
G EAF2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,113,348...25,147,064
Ensembl chr33:25,112,570...25,146,692 		JBrowse link
G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,138,475...2,405,420
Ensembl chr20:2,155,822...2,405,418 		JBrowse link
G EFCC1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:3,047,915...3,089,138
Ensembl chr20:3,049,673...3,087,023 		JBrowse link
G FAM162A family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,525,408...25,552,272
Ensembl chr33:25,525,411...25,552,256 		JBrowse link
G FBXO40 F-box protein 40 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,841,998...24,899,973
Ensembl chr33:24,880,530...24,897,129 		JBrowse link
G GATA2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991 		JBrowse link
G GOLGB1 golgin B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,927,631...25,025,187
Ensembl chr33:24,928,729...25,025,090 		JBrowse link
G GP9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:3,027,790...3,029,496 JBrowse link
G GTF2E1 general transcription factor IIE subunit 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,107,650...24,207,543
Ensembl chr33:24,151,700...24,186,512 		JBrowse link
G H1-10 H1.10 linker histone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,799,360...2,800,524 JBrowse link
G H1-8 H1.8 linker histone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,614,822...5,619,136
Ensembl chr20:5,617,001...5,624,352 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,530,221...26,643,477
Ensembl chr33:26,533,114...26,637,035 		JBrowse link
G HCLS1 hematopoietic cell-specific Lyn substrate 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,901,023...24,925,710
Ensembl chr33:24,901,287...24,922,923 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,982,127...28,044,379
Ensembl chr33:27,987,252...28,044,363 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: Homogentisic acidura OMIM
ClinVar		 PMID:1001939 PMID:1360590 PMID:2114497 PMID:8782815 PMID:9154114 More... NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HMCES 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,808,687...2,831,123
Ensembl chr20:2,808,689...2,830,462 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,803,224...25,868,587
Ensembl chr33:25,803,503...25,868,174 		JBrowse link
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,644,002...5,716,702
Ensembl chr20:5,644,089...5,715,906 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652 		JBrowse link
G ISY1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,945,636...2,972,245
Ensembl chr20:2,945,720...2,972,245 		JBrowse link
G ITGB5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,797,204...27,912,558
Ensembl chr33:27,797,667...27,912,584 		JBrowse link
G KALRN kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,161,403...27,752,891
Ensembl chr33:27,161,504...27,746,497 		JBrowse link
G KBTBD12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,955,638...2,034,355
Ensembl chr20:1,964,607...2,032,036 		JBrowse link
G KLF15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:513,649...524,873
Ensembl chr20:513,622...523,395 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,561,335...25,631,713
Ensembl chr33:25,566,419...25,631,718 		JBrowse link
G LOC477072 serotransferrin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881 		JBrowse link
G MCM2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366 		JBrowse link
G MGLL monoglyceride lipase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,765,650...1,880,710
Ensembl chr20:1,766,216...1,943,588 		JBrowse link
G MIX23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,498,248...25,524,037
Ensembl chr33:25,500,540...25,524,063 		JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,566,318...28,605,483
Ensembl chr23:28,563,757...28,605,460 		JBrowse link
G MUC13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,926,395...27,951,690
Ensembl chr33:27,926,442...27,958,778 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181 		JBrowse link
G NEK11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,244,116...28,496,595
Ensembl chr23:28,247,451...28,442,816 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805 		JBrowse link
G NUDT16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,498,730...28,500,998
Ensembl chr23:28,498,652...28,499,998 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:28,505,052...28,586,564
Ensembl chr33:28,356,828...28,592,415 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,763,282...25,798,284
Ensembl chr33:25,763,255...25,798,198 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,689,618...25,737,179
Ensembl chr33:25,700,353...25,735,540 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,643,439...25,676,979
Ensembl chr33:25,643,883...25,677,462 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,131,969...26,227,256
Ensembl chr33:26,131,893...26,227,253 		JBrowse link
G PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:27,902,500...27,973,609
Ensembl chr23:27,902,840...27,971,892 		JBrowse link
G PLXNA1 plexin A1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,143,072...1,186,623
Ensembl chr20:870,870...1,184,321 		JBrowse link
G PLXND1 plexin D1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,554,814...5,610,417
Ensembl chr20:5,554,708...5,610,122 		JBrowse link
G PODXL2 podocalyxin like 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,716,672...1,752,872
Ensembl chr20:1,716,666...1,760,035 		JBrowse link
G POLQ DNA polymerase theta ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,713,174...24,837,113
Ensembl chr33:24,714,086...24,837,402 		JBrowse link
G RAB43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,979,094...3,020,496
Ensembl chr20:2,978,727...3,011,715 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,704,716...2,776,518
Ensembl chr20:2,704,752...2,826,636 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,107,754...24,151,378
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,630,735...5,638,906 JBrowse link
G ROPN1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,021,990...27,056,675 JBrowse link
G RPL32 ribosomal protein L32 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,727,201...5,756,190
Ensembl chr20:5,727,377...5,748,468
Ensembl chr20:5,727,377...5,748,468 		JBrowse link
G RPN1 ribophorin I ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,611,316...2,640,047
Ensembl chr20:2,611,551...2,639,983 		JBrowse link
G RUVBL1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,095,807...2,137,528
Ensembl chr20:2,095,786...2,137,579 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,266,476...26,336,544
Ensembl chr33:26,267,429...26,333,831 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,070,739...2,087,790
Ensembl chr20:2,070,248...2,087,789 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,971,178...26,041,842
Ensembl chr33:25,970,764...26,091,087 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:28,085,345...28,200,779
Ensembl chr33:28,085,350...28,214,022 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,154,415...25,190,715
Ensembl chr33:25,154,448...25,189,929 		JBrowse link
G SLC41A3 solute carrier family 41 member 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:120,589...211,554
Ensembl chr20:115,011...211,075 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,869,848...25,945,328
Ensembl chr33:25,870,052...25,940,745 		JBrowse link
G SNX4 sorting nexin 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:28,413,586...28,468,546
Ensembl chr33:28,419,128...28,469,488 		JBrowse link
G STXBP5L syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,320,625...24,702,782
Ensembl chr33:24,320,650...24,697,153 		JBrowse link
G TMCC1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,352,304...5,525,798
Ensembl chr20:5,348,446...5,545,546 		JBrowse link
G TMEM108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,992,038...30,331,791
Ensembl chr23:29,992,021...30,396,840 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:30,517,172...30,578,664
Ensembl chr23:30,516,125...30,578,108 		JBrowse link
G TPRA1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,661,980...1,680,111
Ensembl chr20:1,653,855...1,671,666 		JBrowse link
G TRH thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866 		JBrowse link
G TXNRD3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:782,653...844,159
Ensembl chr20:782,653...831,351 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,645,755...29,658,587
Ensembl chr23:29,645,966...29,659,019 		JBrowse link
G UMPS uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
G UROC1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:676,624...717,109
Ensembl chr20:678,073...717,141 		JBrowse link
G WDR5B WD repeat domain 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,554,218...25,557,025
Ensembl chr33:25,555,419...25,556,408 		JBrowse link
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:28,229,270...28,347,939
Ensembl chr33:28,233,728...28,348,154 		JBrowse link
G ZXDC ZXD family zinc finger C ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:619,806...664,089
Ensembl chr20:621,331...651,488 		JBrowse link
Alkaptonuric Ochronosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGD homogentisate 1,2-dioxygenase ISO ClinVar Annotator: match by term: Alkaptonuric ochronosis ClinVar PMID:9529363 PMID:10205262 PMID:10340975 PMID:10482952 PMID:10594001 More... NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
Aminoacylase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: Aminoacylase 1 deficiency ClinVar PMID:25741868 NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G ACY1 aminoacylase 1 ISO ClinVar Annotator: match by term: Aminoacylase 1 deficiency OMIM
ClinVar		 PMID:16274666 PMID:16465618 PMID:17562838 PMID:20480396 PMID:21414403 More... NCBI chr20:37,732,231...37,736,986 JBrowse link
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme ClinVar NCBI chr24:33,226,636...33,246,496
Ensembl chr24:33,226,688...33,245,901 		JBrowse link
argininosuccinic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASL argininosuccinate lyase ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria OMIM
ClinVar		 PMID:705937 PMID:1705937 PMID:2263616 PMID:9045711 PMID:9256435 More... NCBI chr 6:768,522...779,144
Ensembl chr 6:730,358...779,424 		JBrowse link
G CRCP CGRP receptor component ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 6:806,892...843,066
Ensembl chr 6:806,744...842,424 		JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:19224584 PMID:28492532 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532
G RABGEF1 RAB guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 6:1,064,694...1,159,906
Ensembl chr 6:1,064,655...1,179,547 		JBrowse link
G SBDS SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 6:1,256,087...1,263,482
Ensembl chr 6:1,256,546...1,263,467 		JBrowse link
G TMEM248 transmembrane protein 248 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 6:1,189,540...1,223,091
Ensembl chr 6:1,211,658...1,222,768 		JBrowse link
G TPST1 tyrosylprotein sulfotransferase 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 6:950,068...1,050,281
Ensembl chr 6:905,637...1,055,080 		JBrowse link
aromatic L-amino acid decarboxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDC dopa decarboxylase ISO ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase OMIM
ClinVar		 PMID:1357595 PMID:9536098 PMID:9789536 PMID:14991824 PMID:15079002 More... NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chr14:22,718,020...22,734,109
Ensembl chr14:22,718,042...22,734,054 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579 		JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186 		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:121,754,965...121,772,209
Ensembl chr  X:121,755,221...121,772,541 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,133,314...122,140,949
Ensembl chr  X:122,133,325...122,140,447 		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:121,751,606...121,754,771
Ensembl chr  X:121,752,027...121,754,771 		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:121,515,417...121,550,373
Ensembl chr  X:121,507,084...121,545,263 		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:121,330,371...121,334,634
Ensembl chr  X:121,330,259...121,334,634 		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:123,081,262...123,143,509
Ensembl chr  X:123,081,050...123,140,133 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,409,169...121,418,666
Ensembl chr  X:121,409,625...121,418,395 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,268,867...123,291,467
Ensembl chr  X:123,268,867...123,291,467 		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:123,071,076...123,080,799 JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884 		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:122,101,992...122,109,240
Ensembl chr  X:122,101,992...122,109,165 		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:121,460,116...121,472,605
Ensembl chr  X:121,460,895...121,472,608 		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:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524 		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:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414 		JBrowse link
G F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,914,362...122,916,199 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:122,205,043...122,212,626
Ensembl chr  X:122,205,683...122,212,195 		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:122,148,234...122,158,172
Ensembl chr  X:122,148,282...122,154,807 		JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO OMIM:302060 MouseDO NCBI chr24:19,618,581...19,643,685
Ensembl chr24:19,618,558...19,643,046 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		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:123,046,451...123,064,580
Ensembl chr  X:123,045,954...123,064,580 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 More... NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,741,199...122,822,446
Ensembl chr  X:122,741,197...122,779,143 		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:122,141,633...122,146,724
Ensembl chr  X:122,141,566...122,146,824 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,910,412...122,913,373
Ensembl chr  X:122,910,968...122,913,382 		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:123,309,084...123,310,276 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:121,264,824...121,296,712
Ensembl chr  X:121,266,584...121,297,076 		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:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,599,368...121,608,707
Ensembl chr  X:121,599,368...121,608,643 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562 		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:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		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:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365 		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:122,185,300...122,186,498 JBrowse link
G LOC100683646 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,566,522...122,567,799 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:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G MEST mesoderm specific transcript ISO OMIM:302060 MouseDO NCBI chr14:6,435,693...6,454,358
Ensembl chr14:6,436,649...6,449,099 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,851,667...122,878,865
Ensembl chr  X:122,851,667...122,879,394 		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:123,071,076...123,080,695
Ensembl chr  X:123,074,956...123,080,793 		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:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		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:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G OPN1LW opsin 1, medium wave sensitive 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:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		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:121,616,122...121,647,326
Ensembl chr  X:121,616,114...121,647,697 		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:122,165,460...122,180,727
Ensembl chr  X:122,167,144...122,180,951 		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:121,577,564...121,593,294
Ensembl chr  X:121,580,073...121,593,287 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,489,041...121,491,356
Ensembl chr  X:121,489,040...121,491,431 		JBrowse link
G PNMA6A PNMA family member 6A 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:120,909,423...120,912,903
Ensembl chr  X:120,910,842...120,912,251 		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:121,218,147...121,220,896 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:123,245,227...123,251,283
Ensembl chr  X:123,247,760...123,251,288 		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:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		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:122,098,020...122,100,719
Ensembl chr  X:122,098,020...122,100,719 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,197,049...122,201,103
Ensembl chr  X:122,197,289...122,200,219 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,505,117...121,511,674
Ensembl chr  X:121,505,141...121,510,347 		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:122,885,491...122,893,466 JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,594,992...121,599,333
Ensembl chr  X:121,594,864...121,599,277 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,608,802...121,613,796
Ensembl chr  X:121,608,944...121,613,795 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II OMIM
ClinVar		 PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 More... NCBI chr  X:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506 		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:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		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:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,815,982...121,820,790 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,322,773...123,438,999
Ensembl chr  X:123,324,729...123,438,947 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,263,341...121,265,009
Ensembl chr  X:121,258,646...121,264,555 		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:122,195,500...122,196,579
Ensembl chr  X:122,195,502...122,196,577 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,210,965...123,231,847
Ensembl chr  X:123,203,722...123,231,091 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,237,905...121,248,856
Ensembl chr  X:121,237,827...121,248,862 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:120,770,099...120,846,855
Ensembl chr  X:120,782,011...120,843,322 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,161,954...121,179,207
Ensembl chr  X:121,173,094...121,174,224 		JBrowse link
Beta-Aminoisobutyric Acid, Urinary Excretion of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT2 alanine--glyoxylate aminotransferase 2 ISO ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of OMIM
ClinVar		 PMID:21572414 NCBI chr 4:73,292,117...73,327,769
Ensembl chr 4:73,292,101...73,327,962 		JBrowse link
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency ClinVar PMID:25741868 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency OMIM
ClinVar		 PMID:7122152 PMID:9536098 PMID:16199547 PMID:17160907 PMID:17576681 More... NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency ClinVar PMID:25741868 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
beta-ketothiolase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase OMIM
ClinVar		 PMID:1346617 PMID:1373235 PMID:1627655 PMID:1715688 PMID:4690360 More... NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812 		JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:25741868 PMID:31268215 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G C5H11orf65 chromosome 5 C11orf65 homolog ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291 		JBrowse link
G EXPH5 exophilin 5 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 5:24,006,577...24,078,136
Ensembl chr 5:23,985,054...24,075,963 		JBrowse link
G NPAT nuclear protein, coactivator of histone transcription ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 5:24,297,419...24,360,461
Ensembl chr 5:24,296,653...24,346,935 		JBrowse link
G POGLUT3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase ClinVar PMID:28492532 NCBI chr 5:24,082,818...24,104,620
Ensembl chr 5:24,082,812...24,103,829 		JBrowse link
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,211,533...21,323,851 JBrowse link
G BCO2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:20,914,658...20,969,847
Ensembl chr 5:20,915,647...20,964,177 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,559,307...21,578,314
Ensembl chr 5:21,559,298...21,592,854 		JBrowse link
G C5H11orf52 chromosome 5 C11orf52 homolog ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,168,810...21,177,594
Ensembl chr 5:21,169,460...21,176,171 		JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,199,494...21,205,441
Ensembl chr 5:21,201,326...21,205,111 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,097,000...21,168,470
Ensembl chr 5:21,100,045...21,167,166 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,205,520...21,210,629 JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,533,859...21,558,543
Ensembl chr 5:21,534,298...21,557,384 		JBrowse link
G HSPB2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,179,875...21,181,096
Ensembl chr 5:21,179,881...21,181,017 		JBrowse link
G IL18 interleukin 18 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,509,143...21,531,390
Ensembl chr 5:21,512,026...21,531,641 		JBrowse link
G MIR34B microRNA mir-34b ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,558,685...21,558,768
Ensembl chr 5:21,558,685...21,558,768 		JBrowse link
G MIR34C microRNA mir-34c ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,558,106...21,558,160 JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,042,931...21,053,891
Ensembl chr 5:21,044,817...21,053,847 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency ClinVar PMID:7833954 PMID:7981714 PMID:8088845 PMID:8268925 PMID:8533759 More... NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,053,927...21,060,591
Ensembl chr 5:21,053,216...21,063,122 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,671,000...21,695,757
Ensembl chr 5:21,628,439...21,694,773 		JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,731,093...21,740,770 JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,323,956...21,356,835
Ensembl chr 5:21,322,059...21,394,193 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency OMIM
ClinVar		 PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 More... NCBI chr 5:20,883,128...20,912,318
Ensembl chr 5:20,896,236...20,912,297 		JBrowse link
G QDPR quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr 3:62,970,850...62,987,512
Ensembl chr 3:62,970,121...63,028,395 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,030,295...21,041,125 JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,354,127...21,479,891
Ensembl chr 5:21,358,902...21,479,841 		JBrowse link
G TEX12 testis expressed 12 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:7563095 PMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 More... NCBI chr 5:20,968,201...20,972,710
Ensembl chr 5:20,968,185...20,972,850 		JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 5:21,041,139...21,042,769
Ensembl chr 5:21,040,715...21,042,769 		JBrowse link
BH4-deficient hyperphenylalaninemia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B OMIM
ClinVar		 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 More... NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B ClinVar PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 More... NCBI chr 5:20,883,128...20,912,318
Ensembl chr 5:20,896,236...20,912,297 		JBrowse link
BH4-deficient hyperphenylalaninemia C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G QDPR quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency OMIM
ClinVar		 PMID:1283784 PMID:2116088 PMID:7627180 PMID:8326489 PMID:8518287 More... NCBI chr 3:62,970,850...62,987,512
Ensembl chr 3:62,970,121...63,028,395 		JBrowse link
BH4-deficient hyperphenylalaninemia D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency OMIM
ClinVar		 PMID:958615 PMID:8352282 PMID:8618906 PMID:9585615 PMID:9760199 More... NCBI chr 4:21,719,863...21,723,493
Ensembl chr 4:21,719,863...21,721,574 		JBrowse link
biotin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO ClinVar Annotator: match by term: Biotin deficiency ClinVar PMID:88555 PMID:9099842 PMID:9158148 PMID:10400129 PMID:11313766 More... NCBI chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456 		JBrowse link
biotinidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO ClinVar Annotator: match by term: Biotinidase deficiency OMIM
ClinVar		 PMID:88555 PMID:1668630 PMID:7509806 PMID:7550325 PMID:9099842 More... NCBI chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456 		JBrowse link
G LOC608697 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:20083419 PMID:28492532 NCBI chr23:27,069,676...27,188,247 JBrowse link
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:16,782,732...16,789,490
Ensembl chr 6:16,781,860...16,788,878 		JBrowse link
G BCKDK branched chain keto acid dehydrogenase kinase ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22956686 PMID:25741868 PMID:26467025 More... NCBI chr 6:17,128,615...17,132,925
Ensembl chr 6:17,128,824...17,133,585 		JBrowse link
G BCL7C BAF chromatin remodeling complex subunit BCL7C ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,305,670...17,354,375
Ensembl chr 6:17,293,776...17,340,526 		JBrowse link
G CFAP119 cilia and flagella associated protein 119 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,414,722...17,419,011
Ensembl chr 6:17,414,809...17,418,848 		JBrowse link
G COX6A2 cytochrome c oxidase subunit 6A2 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:16,807,094...16,807,763
Ensembl chr 6:16,807,150...16,809,998 		JBrowse link
G CTF1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,299,561...17,303,095
Ensembl chr 6:17,299,561...17,303,095 		JBrowse link
G FBRS fibrosin ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,497,612...17,509,323
Ensembl chr 6:17,497,831...17,508,446 		JBrowse link
G FBXL19 F-box and leucine rich repeat protein 19 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,254,595...17,274,103
Ensembl chr 6:17,248,884...17,274,850 		JBrowse link
G FUS FUS RNA binding protein ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114 		JBrowse link
G ITGAD integrin subunit alpha D ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:16,808,680...16,834,019
Ensembl chr 6:16,808,971...16,996,286 		JBrowse link
G ITGAM integrin subunit alpha M ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286 		JBrowse link
G ITGAX integrin subunit alpha X ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:16,898,143...16,927,270
Ensembl chr 6:16,808,971...16,996,286 		JBrowse link
G KAT8 lysine acetyltransferase 8 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,114,528...17,125,287
Ensembl chr 6:17,114,528...17,125,203 		JBrowse link
G ORAI3 ORAI calcium release-activated calcium modulator 3 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,248,900...17,253,935
Ensembl chr 6:17,248,884...17,274,850 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,418,927...17,428,431
Ensembl chr 6:17,418,926...17,428,359 		JBrowse link
G PRR14 proline rich 14 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,512,349...17,517,799
Ensembl chr 6:17,512,391...17,517,590 		JBrowse link
G PRSS36 serine protease 36 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,096,996...17,107,676
Ensembl chr 6:17,096,996...17,107,420 		JBrowse link
G PRSS53 serine protease 53 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,144,099...17,148,767
Ensembl chr 6:17,144,154...17,148,673 		JBrowse link
G PRSS8 serine protease 8 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,110,251...17,114,564
Ensembl chr 6:17,110,300...17,114,816 		JBrowse link
G PYCARD PYD and CARD domain containing ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240 		JBrowse link
G RNF40 ring finger protein 40 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,402,022...17,414,494
Ensembl chr 6:17,402,908...17,414,362 		JBrowse link
G RUSF1 RUS family member 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:16,752,901...16,767,269
Ensembl chr 6:16,752,608...16,765,982 		JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,224,107...17,246,527
Ensembl chr 6:17,224,694...17,245,870 		JBrowse link
G SLC5A2 solute carrier family 5 member 2 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:16,765,935...16,772,145
Ensembl chr 6:16,765,938...16,772,137 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,437,097...17,470,724 JBrowse link
G STX1B syntaxin 1B ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,209,972...17,219,903
Ensembl chr 6:17,210,433...17,241,363 		JBrowse link
G STX4 syntaxin 4 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370 		JBrowse link
G TGFB1I1 transforming growth factor beta 1 induced transcript 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:16,775,438...16,781,695
Ensembl chr 6:16,775,836...16,780,935 		JBrowse link
G TRIM72 tripartite motif containing 72 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,031,175...17,053,399
Ensembl chr 6:17,031,913...17,039,556 		JBrowse link
G VKORC1 vitamin K epoxide reductase complex subunit 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,140,565...17,142,621
Ensembl chr 6:17,140,633...17,142,547 		JBrowse link
G ZNF629 zinc finger protein 629 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,371,716...17,398,895
Ensembl chr 6:17,340,326...17,395,541 		JBrowse link
G ZNF646 zinc finger protein 646 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,148,923...17,157,563
Ensembl chr 6:17,148,403...17,156,226 		JBrowse link
G ZNF668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,157,767...17,166,397
Ensembl chr 6:17,158,384...17,166,174 		JBrowse link
G ZNF688 zinc finger protein 688 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,576,983...17,580,040 JBrowse link
G ZNF689 zinc finger protein 689 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,552,119...17,557,077
Ensembl chr 6:17,540,075...17,591,092 		JBrowse link
G ZNF785 zinc finger protein 785 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 6:17,565,330...17,569,490
Ensembl chr 6:17,565,260...17,568,684 		JBrowse link
Brown Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Brown oculocutaneous albinism ClinVar PMID:7920637 PMID:11179026 PMID:17767372 NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572 		JBrowse link
Brunner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAOA monoamine oxidase A ISO ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition OMIM
ClinVar		 PMID:8211186 PMID:9536098 PMID:11700166 PMID:17296899 PMID:17576681 More... NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757 		JBrowse link
G MAOB monoamine oxidase B ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:37,765,810...37,883,955
Ensembl chr  X:37,765,813...37,883,955 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:37,949,560...37,975,573
Ensembl chr  X:37,950,489...37,975,346 		JBrowse link
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPS1 carbamoyl-phosphate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Congenital hyperammonemia, type I ClinVar
OMIM		 PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
carboxypeptidase N deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPN1 carboxypeptidase N subunit 1 ISO ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency OMIM
ClinVar		 PMID:7437116 PMID:12560874 PMID:24033266 NCBI chr28:12,875,737...12,902,514
Ensembl chr28:12,875,249...12,902,264 		JBrowse link
cerebral creatine deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342 		JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,351,242...57,357,934
Ensembl chr20:57,351,575...57,357,520 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,380,472...57,395,249
Ensembl chr20:57,380,460...57,395,226 		JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,656,693...57,668,324
Ensembl chr20:57,657,154...57,787,713 		JBrowse link
G ARID3A AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,724,747...57,746,637
Ensembl chr20:57,722,917...57,746,622 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722 		JBrowse link
G C20H19orf25 chromosome 20 C19orf25 homolog ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,376,356...57,380,511
Ensembl chr20:57,377,059...57,379,453 		JBrowse link
G CBARP CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,554,162...57,559,126
Ensembl chr20:57,554,032...57,559,612 		JBrowse link
G CFD complement factor D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713 		JBrowse link
G CIRBP cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,521,609...57,526,526
Ensembl chr20:57,519,119...57,526,435 		JBrowse link
G CNN2 calponin 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,684,959...57,691,621
Ensembl chr20:57,637,796...57,691,896 		JBrowse link
G DAZAP1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,411,249...57,435,852
Ensembl chr20:57,411,825...57,435,799 		JBrowse link
G EFNA2 ephrin A2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G FAM174C family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532
G FGF22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,899,300...57,903,064
Ensembl chr20:57,900,416...57,903,061 		JBrowse link
G FSTL3 follistatin like 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,878,623...57,884,240
Ensembl chr20:57,879,722...57,884,172 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr20:57,440,698...57,442,588 JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:25741868 PMID:29654216 NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214 		JBrowse link
G GPX4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,703,569...57,710,119 JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,920,089...57,941,057
Ensembl chr20:57,920,740...57,938,374 		JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,756,046...57,758,940
Ensembl chr20:57,756,197...57,758,940 		JBrowse link
G MBD3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,296,713...57,312,988
Ensembl chr20:57,296,713...57,307,110 		JBrowse link
G MED16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,771,543...57,782,839
Ensembl chr20:57,777,827...57,782,819 		JBrowse link
G MEX3D mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,317,232...57,323,854 JBrowse link
G MIDN midnolin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,535,165...57,543,014
Ensembl chr20:57,536,880...57,542,977 		JBrowse link
G MISP mitotic spindle positioning ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,839,423...57,847,013
Ensembl chr20:57,838,731...57,843,219 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:11978605 PMID:12468279 PMID:15108290 PMID:20301745 PMID:25741868 More... NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		JBrowse link
G PALM paralemmin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,847,631...57,868,790
Ensembl chr20:57,849,081...57,868,975 		JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,370,035...57,376,207
Ensembl chr20:57,369,328...57,375,590 		JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,337,808...57,343,993
Ensembl chr20:57,337,874...57,343,945 		JBrowse link
G PLPPR3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,800,998...57,806,233
Ensembl chr20:57,800,740...57,806,246 		JBrowse link
G POLR2E RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,649,836...57,653,661
Ensembl chr20:57,649,868...57,654,199 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,908,327...57,920,016
Ensembl chr20:57,908,351...57,920,027 		JBrowse link
G PRSS57 serine protease 57 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,873,891...57,877,890
Ensembl chr20:57,874,770...57,877,888 		JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,806,450...57,818,435
Ensembl chr20:57,807,826...57,818,359 		JBrowse link
G PWWP3A PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,452,289...57,469,207
Ensembl chr20:57,452,300...57,468,692 		JBrowse link
G R3HDM4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,761,100...57,769,656
Ensembl chr20:57,760,909...57,769,105 		JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,364,419...57,370,069 JBrowse link
G RNF126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,890,333...57,899,364
Ensembl chr20:57,891,413...57,898,863 		JBrowse link
G RPS15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,406,544...57,407,015
Ensembl chr20:57,406,545...57,413,421 		JBrowse link
G SBNO2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,592,901...57,640,047
Ensembl chr20:57,267,724...57,640,750 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981 		JBrowse link
G TMEM259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,695,004...57,703,650
Ensembl chr20:57,695,002...57,749,891 		JBrowse link
G UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:15108290 PMID:28492532 NCBI chr20:57,289,122...57,291,334 JBrowse link
G WDR18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr20:57,712,854...57,717,988
Ensembl chr20:57,712,740...57,718,107 		JBrowse link
cerebral creatine deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,754,965...121,772,209
Ensembl chr  X:121,755,221...121,772,541 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,133,314...122,140,949
Ensembl chr  X:122,133,325...122,140,447 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,751,606...121,754,771
Ensembl chr  X:121,752,027...121,754,771 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,515,417...121,550,373
Ensembl chr  X:121,507,084...121,545,263 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,330,371...121,334,634
Ensembl chr  X:121,330,259...121,334,634 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,081,262...123,143,509
Ensembl chr  X:123,081,050...123,140,133 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,409,169...121,418,666
Ensembl chr  X:121,409,625...121,418,395 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,268,867...123,291,467
Ensembl chr  X:123,268,867...123,291,467 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,071,076...123,080,799 JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,101,992...122,109,240
Ensembl chr  X:122,101,992...122,109,165 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,460,116...121,472,605
Ensembl chr  X:121,460,895...121,472,608 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414 		JBrowse link
G F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,914,362...122,916,199 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,205,043...122,212,626
Ensembl chr  X:122,205,683...122,212,195 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,148,234...122,158,172
Ensembl chr  X:122,148,282...122,154,807 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,046,451...123,064,580
Ensembl chr  X:123,045,954...123,064,580 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,741,199...122,822,446
Ensembl chr  X:122,741,197...122,779,143 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,141,633...122,146,724
Ensembl chr  X:122,141,566...122,146,824 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,910,412...122,913,373
Ensembl chr  X:122,910,968...122,913,382 		JBrowse link
G H2AB3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,309,084...123,310,276 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,264,824...121,296,712
Ensembl chr  X:121,266,584...121,297,076 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,599,368...121,608,707
Ensembl chr  X:121,599,368...121,608,643 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,185,300...122,186,498 JBrowse link
G LOC100683646 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,566,522...122,567,799 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,851,667...122,878,865
Ensembl chr  X:122,851,667...122,879,394 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,071,076...123,080,695
Ensembl chr  X:123,074,956...123,080,793 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,616,122...121,647,326
Ensembl chr  X:121,616,114...121,647,697 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,165,460...122,180,727
Ensembl chr  X:122,167,144...122,180,951 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,577,564...121,593,294
Ensembl chr  X:121,580,073...121,593,287 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,489,041...121,491,356
Ensembl chr  X:121,489,040...121,491,431 		JBrowse link
G PNMA6A PNMA family member 6A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:120,909,423...120,912,903
Ensembl chr  X:120,910,842...120,912,251 		JBrowse link
G PNMA6E PNMA family member 6E ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,218,147...121,220,896 JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,245,227...123,251,283
Ensembl chr  X:123,247,760...123,251,288 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,098,020...122,100,719
Ensembl chr  X:122,098,020...122,100,719 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,197,049...122,201,103
Ensembl chr  X:122,197,289...122,200,219 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency | ClinVar Annotator: match by term: X-linked creatine deficiency syndrome OMIM
ClinVar		 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11326334 PMID:11748843 More... NCBI chr  X:121,505,117...121,511,674
Ensembl chr  X:121,505,141...121,510,347 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,885,491...122,893,466 JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,594,992...121,599,333
Ensembl chr  X:121,594,864...121,599,277 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,608,802...121,613,796
Ensembl chr  X:121,608,944...121,613,795 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 More... NCBI chr  X:121,815,982...121,820,790 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,322,773...123,438,999
Ensembl chr  X:123,324,729...123,438,947 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,263,341...121,265,009
Ensembl chr  X:121,258,646...121,264,555 		JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,195,500...122,196,579
Ensembl chr  X:122,195,502...122,196,577 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,210,965...123,231,847
Ensembl chr  X:123,203,722...123,231,091 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,237,905...121,248,856
Ensembl chr  X:121,237,827...121,248,862 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:120,770,099...120,846,855
Ensembl chr  X:120,782,011...120,843,322 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,161,954...121,179,207
Ensembl chr  X:121,173,094...121,174,224 		JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:24552284 PMID:24552285 PMID:24737293 PMID:25075844 PMID:25075845 More... NCBI chr27:44,883,573...44,912,930
Ensembl chr27:44,884,882...44,912,850 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 More... NCBI chr 9:1,547,645...1,571,567
Ensembl chr 9:1,547,686...1,573,581 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:38,534,704...38,537,806
Ensembl chr27:38,534,707...38,537,604 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 More... NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G GNG4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr 4:4,308,892...4,389,812
Ensembl chr 4:4,354,050...4,387,191 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More... NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IL36RN interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:6147717 PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 More... NCBI chr17:37,184,527...37,190,094
Ensembl chr17:37,184,801...37,189,018 		JBrowse link
G ITK IL2 inducible T cell kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 NCBI chr 4:52,902,886...52,966,465
Ensembl chr 4:52,902,871...52,966,542 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More... NCBI chr 7:69,583,386...69,664,226
Ensembl chr 7:69,580,736...69,673,899 		JBrowse link
G LYST lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition OMIM
ClinVar		 PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More... NCBI chr 4:4,106,869...4,296,042
Ensembl chr 4:4,089,837...4,294,593 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 More... NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737 		JBrowse link
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr26:17,519,158...17,531,200
Ensembl chr26:17,519,199...17,529,514 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More... NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 1:103,571,756...103,605,692 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 More... NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More... NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232 		JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr12:2,419,456...2,422,832
Ensembl chr12:2,378,126...2,432,303 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138 NCBI chr30:39,270,852...39,309,507
Ensembl chr30:39,270,919...39,308,108 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 More... NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More... NCBI chr 9:1,540,933...1,547,029
Ensembl chr 9:1,540,932...1,547,029 		JBrowse link
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More... NCBI chr  X:95,739,568...95,762,117
Ensembl chr  X:95,739,669...95,760,698 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 More... NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 More... NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24524345 PMID:25741868 PMID:28492532 NCBI chr 1:35,600,440...35,645,421
Ensembl chr 1:35,601,133...35,644,819 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More... NCBI chr20:52,413,174...52,421,525
Ensembl chr20:52,413,191...52,421,517 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More... NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G UNC13D unc-13 homolog D ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 More... NCBI chr 9:4,753,300...4,766,751
Ensembl chr 9:4,753,166...4,766,756 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More... NCBI chr  X:95,300,234...95,356,103
Ensembl chr  X:95,331,827...95,351,582 		JBrowse link
citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307 		JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398 		JBrowse link
G ASS1 argininosuccinate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild
ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria		 RGD
ClinVar		 PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... RGD:1599301 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 9:53,266,396...53,276,236
Ensembl chr 9:53,266,401...53,276,677 		JBrowse link
G FUBP3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 9:53,317,955...53,370,040
Ensembl chr 9:53,317,438...53,370,112 		JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 9:53,284,455...53,300,951
Ensembl chr 9:53,284,455...53,299,312
Ensembl chr 9:53,284,455...53,299,312 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:9536098 PMID:10369257 PMID:11153906 PMID:11343052 PMID:11793471 More... NCBI chr14:21,295,651...21,481,767
Ensembl chr14:21,296,512...21,482,236 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239 RGD:1599240 NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
Citrullinemia Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO protein:altered expression:liver RGD PMID:3369364 RGD:13628398 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II ClinVar PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 More... NCBI chr14:21,295,651...21,481,767
Ensembl chr14:21,296,512...21,482,236 		JBrowse link
classic citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASS1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Citrullinemia type I OMIM
ClinVar		 PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I ClinVar PMID:10369257 PMID:14680984 PMID:16199547 PMID:23022256 PMID:23053473 More... NCBI chr14:21,295,651...21,481,767
Ensembl chr14:21,296,512...21,482,236 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
combined D-2- and L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria OMIM
ClinVar		 PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 More... NCBI chr26:30,002,732...30,006,696
Ensembl chr26:30,002,861...30,005,444 		JBrowse link
combined malonic and methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia OMIM
ClinVar		 PMID:9030548 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21785126 More... NCBI chr 5:64,288,339...64,338,596
Ensembl chr 5:64,289,295...64,414,637 		JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 OMIM
ClinVar		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		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 chr18:12,817,177...12,843,502
Ensembl chr18:12,808,806...12,843,076 		JBrowse link
cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency OMIM
ClinVar		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr 7:12,558,455...12,618,637
Ensembl chr 7:12,555,143...12,617,996 		JBrowse link
G CEP89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:119,124,042...119,197,394
Ensembl chr 1:119,123,933...119,197,338 		JBrowse link
G PREPL prolyl endopeptidase like ISO ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility ISO
IAGP		 ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I
Cystinuria, type I - A
Cystinuria, type II - A
DNA:missense mutations		 OMIM
ClinVar
OMIA
RGD		 PMID:7493896 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8334504 More... RGD:1600015 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO
IAGP		 ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition
Cystinuria, type II - B		 OMIM
ClinVar
OMIA		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054 		JBrowse link
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr25:51,561,821...51,576,852
Ensembl chr25:51,553,404...51,576,570 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496 		JBrowse link
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,968,291...50,976,089 JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,493,535...50,531,256
Ensembl chr25:50,493,519...50,531,444 		JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,209,628...51,226,581
Ensembl chr25:51,209,003...51,226,959 		JBrowse link
G AQP12 aquaporin 12 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,589,482...50,594,020 JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More...
G ATG4B autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,494,316...51,518,683
Ensembl chr25:51,504,537...51,517,659 		JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,449,700...51,450,967 JBrowse link
G CAPN10 calpain 10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,555,402...50,566,132
Ensembl chr25:50,555,425...50,566,135 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402 		JBrowse link
G COPS9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More...
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 OMIM
ClinVar		 PMID:7609436 PMID:9536098 PMID:15609246 PMID:16037974 PMID:16081310 More... NCBI chr25:51,561,821...51,576,852
Ensembl chr25:51,553,404...51,576,570 		JBrowse link
G DTYMK deoxythymidylate kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,520,307...51,535,407
Ensembl chr25:51,520,581...51,526,069
Ensembl chr25:51,520,581...51,526,069 		JBrowse link
G DUSP28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,533,767...50,537,513 JBrowse link
G ERFE erythroferrone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,656,576...48,665,620 JBrowse link
G ESPNL espin like ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,609,340...48,634,397 JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,331,876...51,425,754
Ensembl chr25:51,332,409...51,425,449 		JBrowse link
G GAL3ST2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,581,449...51,594,240
Ensembl chr25:51,581,546...51,597,774 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:8004109 PMID:9361298 PMID:10102421 PMID:10207904 PMID:10848620 More... NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659 		JBrowse link
G GPC1 glypican 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,484,554...50,492,940
Ensembl chr25:50,482,071...50,515,877 		JBrowse link
G GPR35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,566,263...50,841,473 JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478 		JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,228,194...51,296,743
Ensembl chr25:51,228,371...51,297,942 		JBrowse link
G HES6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,710,694...48,713,392 JBrowse link
G ILKAP ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,666,850...48,689,405
Ensembl chr25:48,666,849...48,689,381 		JBrowse link
G ING5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,535,521...51,556,264
Ensembl chr25:51,534,753...51,554,644 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964 		JBrowse link
G KLHL30 kelch like family member 30 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,638,889...48,650,050
Ensembl chr25:48,640,753...48,648,830 		JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,292,968...48,370,727
Ensembl chr25:48,292,720...48,370,469 		JBrowse link
G MAB21L4 mab-21 like 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,731,528...50,738,661 JBrowse link
G MLPH melanophilin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,121,499...48,167,535
Ensembl chr25:48,121,499...48,170,710 		JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,129,186...51,144,452 JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:49,920,748...49,968,966
Ensembl chr25:49,920,894...49,968,901 		JBrowse link
G NEU4 neuraminidase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,594,865...51,602,500 JBrowse link
G OR6B2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:49,989,139...49,990,077
Ensembl chr25:49,989,139...49,990,077 		JBrowse link
G OTOS otospiralin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,304,308...50,308,209
Ensembl chr25:50,304,312...50,306,339 		JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,145,094...51,181,040
Ensembl chr25:51,144,912...51,177,818 		JBrowse link
G PDCD1 programmed cell death 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,716,499...48,761,617
Ensembl chr25:48,717,173...48,758,755 		JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,181,092...51,206,237
Ensembl chr25:51,181,053...51,206,193 		JBrowse link
G PRLH prolactin releasing hormone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,180,216...48,181,105
Ensembl chr25:48,178,598...48,181,155 		JBrowse link
G RAB17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,181,557...48,220,729
Ensembl chr25:48,188,085...48,203,149 		JBrowse link
G RAMP1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,431,136...48,466,070
Ensembl chr25:48,437,919...48,466,070 		JBrowse link
G RBM44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,378,913...48,420,011
Ensembl chr25:48,378,970...48,410,104 		JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:50,539,494...50,549,141
Ensembl chr25:50,543,752...50,548,847 		JBrowse link
G SCLY selenocysteine lyase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,574,648...48,608,367
Ensembl chr25:48,574,130...48,632,035 		JBrowse link
G SEPTIN2 septin 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,296,486...51,330,508
Ensembl chr25:51,296,554...51,328,616 		JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,057,358...51,139,808
Ensembl chr25:51,057,376...51,135,412 		JBrowse link
G STK25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,425,597...51,434,479
Ensembl chr25:51,425,597...51,434,479 		JBrowse link
G THAP4 THAP domain containing 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:51,456,349...51,480,753
Ensembl chr25:51,456,344...51,494,367 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,782,448...48,836,993
Ensembl chr25:48,782,463...48,834,374 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:49,165,450...49,216,545
Ensembl chr25:49,165,641...49,166,123 		JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chr25:48,503,866...48,558,950
Ensembl chr25:48,503,833...48,558,986 		JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,151,500...52,255,024
Ensembl chr 3:52,151,535...52,249,612 		JBrowse link
G ACAN aggrecan ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:51,995,100...52,031,812
Ensembl chr 3:51,969,779...52,031,544 		JBrowse link
G ANPEP alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,764,418...52,779,516
Ensembl chr 3:52,764,418...52,779,746 		JBrowse link
G AP3S2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,807,462...52,865,290
Ensembl chr 3:52,807,462...52,865,245 		JBrowse link
G ARPIN actin related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,870,775...52,880,742
Ensembl chr 3:52,870,822...52,881,098 		JBrowse link
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,408,120...53,506,728
Ensembl chr 3:53,408,217...53,473,146 		JBrowse link
G CIB1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224 		JBrowse link
G CRTC3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,564,244...53,669,778
Ensembl chr 3:53,563,597...53,649,809 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,346,975...53,356,547
Ensembl chr 3:53,347,012...53,356,516 		JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,357,491...53,368,285
Ensembl chr 3:53,358,045...53,365,423 		JBrowse link
G GDPGP1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,188,526...53,195,242
Ensembl chr 3:53,193,854...53,195,050 		JBrowse link
G HAPLN3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,033,985...52,052,572
Ensembl chr 3:52,033,991...52,051,617 		JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,310,364...53,312,034
Ensembl chr 3:53,310,404...53,311,693 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20171147 More... NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496 		JBrowse link
G IQGAP1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,683,869...53,791,136
Ensembl chr 3:53,683,791...53,792,186 		JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,319,938...53,338,538
Ensembl chr 3:53,322,299...53,338,598 		JBrowse link
G MESP1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,738,333...52,739,962
Ensembl chr 3:52,738,366...52,739,755 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,757,581...52,759,987
Ensembl chr 3:52,756,836...52,760,004 		JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,054,243...52,064,423
Ensembl chr 3:52,054,831...52,080,240 		JBrowse link
G MIR9-3 microRNA mir-9-3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,410,840...52,410,900
Ensembl chr 3:52,410,825...52,410,914 		JBrowse link
G NGRN neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,209,206...53,214,629
Ensembl chr 3:53,209,250...53,214,120 		JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,674,363...52,684,776
Ensembl chr 3:52,674,348...52,684,660 		JBrowse link
G PLIN1 perilipin 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,657,178...52,670,573
Ensembl chr 3:52,658,427...52,671,196 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,252,893...53,279,717
Ensembl chr 3:53,253,626...53,279,211 		JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,287,343...53,292,673 JBrowse link
G RHCG Rh family C glycoprotein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,503,172...52,526,362
Ensembl chr 3:52,503,176...52,526,719 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134 		JBrowse link
G SEMA4B semaphorin 4B ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,159,233...53,184,102
Ensembl chr 3:53,121,775...53,184,118 		JBrowse link
G TICRR TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,584,913...52,629,731
Ensembl chr 3:52,584,454...52,629,164 		JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,294,628...53,307,759
Ensembl chr 3:53,295,197...53,309,067 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732 		JBrowse link
G WDR93 WD repeat domain 93 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:52,684,741...52,732,984
Ensembl chr 3:52,693,206...52,732,941 		JBrowse link
G ZNF710 zinc finger protein 710 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,002,822...53,069,014
Ensembl chr 3:53,002,598...53,069,027 		JBrowse link
G ZNF774 zinc finger protein 774 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 3:53,821,244...53,829,092
Ensembl chr 3:53,821,256...53,828,959 		JBrowse link
dicarboxylic aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A1 solute carrier family 1 member 1 susceptibility ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria | ClinVar Annotator: match by term: Glutamate-aspartate transport defect ClinVar
OMIM		 PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260 		JBrowse link
Dimethylglycine Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMGDH dimethylglycine dehydrogenase ISO ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency OMIM
ClinVar		 PMID:10102904 PMID:10767172 PMID:11231903 PMID:25741868 PMID:28492532 More... NCBI chr 3:27,789,089...27,857,348
Ensembl chr 3:27,790,324...27,856,601 		JBrowse link
diphthamide deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair ClinVar PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chr 9:46,137,573...46,147,829
Ensembl chr 9:46,137,660...46,147,854 		JBrowse link
G DPH2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr15:16,287,300...16,291,079
Ensembl chr15:16,288,370...16,291,032 		JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32732226 More... NCBI chr 9:46,137,573...46,147,829
Ensembl chr 9:46,137,660...46,147,854 		JBrowse link
diphthamide deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 ClinVar
OMIM		 PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr15:16,287,300...16,291,079
Ensembl chr15:16,288,370...16,291,032 		JBrowse link
familial hypertryptophanemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TDO2 tryptophan 2,3-dioxygenase ISO ClinVar Annotator: match by term: Familial hypertryptophanemia OMIM
ClinVar		 PMID:28285122 NCBI chr15:53,406,110...53,424,260
Ensembl chr15:53,405,957...53,423,958 		JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHML CHM like Rab escort protein ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr 7:33,027,051...33,040,711 JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr 7:33,237,124...33,268,835
Ensembl chr 7:33,237,593...33,268,254 		JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency OMIM
ClinVar		 PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412 		JBrowse link
G KMO kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr 7:32,941,487...32,994,541
Ensembl chr 7:32,941,487...32,994,541 		JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr 7:33,364,569...33,369,080
Ensembl chr 7:33,365,045...33,368,969 		JBrowse link
G OPN3 opsin 3 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr 7:32,995,047...33,040,873
Ensembl chr 7:32,996,938...33,040,876 		JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr 7:33,422,964...33,836,252
Ensembl chr 7:33,429,409...33,836,258 		JBrowse link
G WDR64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chr 7:33,048,315...33,185,363 JBrowse link
GABA aminotransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency OMIM
ClinVar		 PMID:6148708 PMID:9536098 PMID:10407778 PMID:15642443 PMID:16199547 More... NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326 		JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:25738457 PMID:28492532 NCBI chr 6:33,338,577...33,345,125
Ensembl chr 6:33,338,571...33,343,750 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G HAPSTR1 HUWE1 associated protein modifying stress responses ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr 6:33,124,932...33,151,221
Ensembl chr 6:33,126,988...33,151,466 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:25738457 PMID:28492532 NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025 		JBrowse link
G TMEM186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:25738457 PMID:28492532
G USP7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:25738457 PMID:28492532 NCBI chr 6:33,277,328...33,315,601
Ensembl chr 6:33,277,444...33,314,491 		JBrowse link
gamma-glutamyl transpeptidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGT1 gamma-glutamyltransferase 1 ISO ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency OMIM
ClinVar		 PMID:25741868 NCBI chr26:28,301,455...28,315,029 JBrowse link
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLS glutaminase ISO ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine OMIM
ClinVar		 PMID:25741868 NCBI chr37:1,433,640...1,508,347
Ensembl chr37:1,433,398...1,508,146 		JBrowse link
glutamate-cysteine ligase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCLC glutamate-cysteine ligase catalytic subunit ISO ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency ClinVar
OMIM		 PMID:10515893 PMID:25741868 PMID:28492532 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
Glutamine Deficiency, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLUL glutamate-ammonia ligase ISO ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic OMIM
ClinVar		 PMID:9536098 PMID:16267323 PMID:17576681 PMID:21353613 PMID:25741868 More... NCBI chr 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241 		JBrowse link
glutaric acidemia I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO RGD PMID:15840571 RGD:10047115 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,812,444...49,816,262
Ensembl chr20:49,814,032...49,816,260 		JBrowse link
G ANGPTL8 angiopoietin like 8 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,040,383...50,043,312
Ensembl chr20:50,040,383...50,042,031 		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 chr20:49,384,595...49,388,758
Ensembl chr20:49,384,966...49,388,755 		JBrowse link
G C20H19orf38 chromosome 20 C19orf38 homolog ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,374,159...50,395,695
Ensembl chr20:50,373,622...50,386,594 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		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 chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,328,466...50,371,845
Ensembl chr20:50,331,030...50,348,195 		JBrowse link
G CCDC159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,964,345...49,970,461
Ensembl chr20:49,964,350...49,970,400 		JBrowse link
G CNN1 calponin 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,830,859...49,837,432
Ensembl chr20:49,831,265...49,837,385 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,225,351...49,228,940
Ensembl chr20:49,225,990...49,228,940 		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 chr20:49,435,956...49,439,493
Ensembl chr20:49,435,844...49,439,479 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,299,236...49,301,815
Ensembl chr20:49,299,406...49,301,814 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,029,354...50,066,829
Ensembl chr20:50,029,369...50,066,829 		JBrowse link
G ECSIT ECSIT signaling integrator ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,848,848...49,867,075
Ensembl chr20:49,848,912...49,867,066 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,886,379...49,904,706
Ensembl chr20:49,886,786...49,901,523 		JBrowse link
G ELOF1 elongation factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,821,968...49,828,052
Ensembl chr14:1,384,324...1,385,366 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,258,827...49,267,279
Ensembl chr20:49,258,845...49,267,198 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,425,423...49,430,673
Ensembl chr20:49,425,534...49,430,667 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,241,956...49,243,838
Ensembl chr20:49,241,962...49,243,837 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 OMIM
ClinVar		 PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 More... NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		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 chr20:49,392,662...49,398,662
Ensembl chr20:49,392,662...49,398,664 		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 chr20:49,367,450...49,383,109
Ensembl chr20:49,367,876...49,382,813 		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 chr20:49,071,243...49,074,184
Ensembl chr20:49,072,234...49,072,902 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442 		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 chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:7795610 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11825066 More... NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355 		JBrowse link
G LOC100682654 zinc finger protein 709 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,614,418...49,647,119 JBrowse link
G LOC484933 zinc finger protein 791 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,471,754...49,519,080
Ensembl chr20:49,473,392...49,500,773 		JBrowse link
G LOC611075 zinc finger protein 709 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,722,550...49,743,492 JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,109,358...49,113,911 JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,446,162...49,461,812 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 chr20:49,302,037...49,329,247
Ensembl chr20:49,302,162...49,329,837 		JBrowse link
G MIR199-1 microRNA mir-199-1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,410,924...50,410,984
Ensembl chr20:50,410,913...50,410,994 		JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,080,490...49,099,623
Ensembl chr20:49,083,132...49,099,884 		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 chr20:49,117,087...49,187,023
Ensembl chr20:49,117,943...49,214,788 		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 chr20:49,917,183...49,926,417
Ensembl chr20:49,917,350...49,926,424 		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 chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,905,246...49,916,551
Ensembl chr20:49,905,248...49,916,463 		JBrowse link
G RAB3D RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,974,592...49,985,362
Ensembl chr20:49,974,590...49,983,062 		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 chr20:49,244,330...49,250,058
Ensembl chr20:49,241,358...49,250,039 		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 chr20:49,926,916...49,942,013
Ensembl chr20:49,925,185...49,942,130 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167 		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 chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223 		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 chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,099,821...50,107,626
Ensembl chr20:50,099,878...50,107,607 		JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,075,302...49,078,694
Ensembl chr20:49,075,834...49,085,324 		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 chr20:49,951,633...49,953,281
Ensembl chr20:49,951,783...49,953,434 		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 chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880 		JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,323,735...50,326,483
Ensembl chr20:50,325,482...50,326,711 		JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,395,862...50,399,118
Ensembl chr20:50,396,005...50,407,535 		JBrowse link
G TMEM205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,970,042...49,973,040
Ensembl chr20:49,970,508...49,973,041 		JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,407,842...49,424,220
Ensembl chr20:49,407,152...49,424,752 		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 chr20:49,400,082...49,403,533
Ensembl chr20:49,400,179...49,403,530 		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 chr20:49,100,794...49,108,734
Ensembl chr20:49,101,158...49,108,732 		JBrowse link
G TSPAN16 tetraspanin 16 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,997,432...50,006,844 JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr20:49,439,387...49,443,661
Ensembl chr20:49,439,387...49,443,661 		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 chr20:49,443,893...49,445,342
Ensembl chr20:49,443,951...49,445,330 		JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:50,326,437...50,331,038
Ensembl chr20:50,325,271...50,331,031 		JBrowse link
G ZNF653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr20:49,867,522...49,883,889
Ensembl chr20:49,866,056...49,883,847 		JBrowse link
glutaric acidemia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUGCT succinyl-CoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: GA III | ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency OMIM
ClinVar		 PMID:1909402 PMID:12555941 PMID:18926513 PMID:20818383 PMID:23893049 More... NCBI chr18:9,051,920...9,766,342
Ensembl chr18:9,030,745...9,766,277 		JBrowse link
Glutaric Aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric acidemia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Glutaric acidemia ClinVar PMID:25741868 NCBI chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880 		JBrowse link
Glutaric Aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Glutaric acidemia type 2A ClinVar PMID:9536098 PMID:16510302 PMID:17576681 PMID:18289905 PMID:23785301 More... NCBI chr30:39,848,241...39,925,809
Ensembl chr30:39,848,270...39,964,823 		JBrowse link
glutathione synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSS glutathione synthetase ISO ClinVar Annotator: match by term: 5-Oxoprolinuria ClinVar PMID:25741868 PMID:28492532 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
glutathione synthetase deficiency of erythrocytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSS glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to OMIM
ClinVar		 PMID:5476481 PMID:8896573 PMID:9215686 PMID:11167850 PMID:15056072 More... NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
glutatione synthetase deficiency with 5-oxoprolinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSS glutathione synthetase ISO OMIM NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
glycine encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase susceptibility ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia RGD
ClinVar		 PMID:4434100 PMID:6179960 PMID:8005589 PMID:9536098 PMID:9580775 More... RGD:1599106 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506 		JBrowse link
G GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:9536098 PMID:12402263 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 5:70,745,591...70,757,292
Ensembl chr 5:70,745,258...70,756,830 		JBrowse link
G GLDC glycine decarboxylase ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:660 PMID:80128 PMID:445864 PMID:1634607 PMID:1996985 More... NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G KDM4C lysine demethylase 4C ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:8005589 PMID:9536098 PMID:9621520 PMID:16199547 PMID:16450403 More... NCBI chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr  X:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 ISO OMIM:605899 MouseDO NCBI chr15:16,235,342...16,267,161
Ensembl chr15:16,235,482...16,267,933 		JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Non-ketotic hyperglycinemia ClinVar PMID:28492532 NCBI chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200 		JBrowse link
Glycine Encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLDC glycine decarboxylase ISO ClinVar Annotator: match by term: Glycine encephalopathy 1 OMIM
ClinVar		 PMID:16450403 PMID:16802295 PMID:25741868 PMID:25741905 PMID:26179960 More... NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450 		JBrowse link
Glycine Encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 OMIM
ClinVar		 PMID:4434100 PMID:8005589 PMID:9580775 PMID:9600239 PMID:9621520 More... NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Glycine encephalopathy 2 ClinVar PMID:9621520 PMID:16450403 PMID:25741868 PMID:28492532 NCBI chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354 		JBrowse link
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC6A9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23265383 PMID:25741868 More... NCBI chr15:16,235,342...16,267,161
Ensembl chr15:16,235,482...16,267,933 		JBrowse link
glycine N-methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNMT glycine N-methyltransferase ISO ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency OMIM
ClinVar		 PMID:11596649 PMID:11810299 PMID:14739680 PMID:28492532 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481 		JBrowse link
Glycinuria with or without Oxalate Urolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC36A1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Hyperglycinuria ClinVar PMID:19033659 NCBI chr 4:57,815,337...57,903,811
Ensembl chr 4:57,837,526...57,904,250 		JBrowse link
G SLC36A2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II OMIM
ClinVar		 PMID:19033659 PMID:25741868 PMID:28492532 NCBI chr 4:57,933,506...57,959,359
Ensembl chr 4:57,933,453...57,992,587 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II ClinVar PMID:9536098 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 More... NCBI chr34:11,329,126...11,344,248
Ensembl chr34:11,329,111...11,344,293 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II ClinVar PMID:19033659 PMID:25741868 PMID:28492532 NCBI chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658 		JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr30:20,756,381...20,795,553
Ensembl chr30:20,716,761...20,795,586 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr30:20,778,497...20,871,304
Ensembl chr30:20,815,775...20,871,220 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr30:20,795,024...20,809,659 JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr30:20,718,622...20,756,394
Ensembl chr30:20,718,274...20,756,365 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLPH melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: Hypomelanosis with no immunologic or neurologic manifestations OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr25:48,121,499...48,167,535
Ensembl chr25:48,121,499...48,170,710 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061 		JBrowse link
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition OMIM
ClinVar		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr20:57,440,698...57,442,588 JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		JBrowse link
Hartnup disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC6A19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect OMIM
ClinVar		 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:18484095 More... NCBI chr34:11,329,126...11,344,248
Ensembl chr34:11,329,111...11,344,293 		JBrowse link
hawkinsinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Hawkinsinuria OMIM
ClinVar		 PMID:858207 PMID:1130176 PMID:1519651 PMID:9536098 PMID:10942115 More... NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:25741868 PMID:31064749 NCBI chr 1:110,325,351...110,328,226
Ensembl chr 1:110,326,843...110,327,442 		JBrowse link
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 ISO MouseDO NCBI chr 3:58,822,405...58,823,770
Ensembl chr 3:58,822,482...58,823,138 		JBrowse link
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:32565547 NCBI chr35:7,860,336...7,998,461
Ensembl chr35:7,955,923...7,998,505 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G DTNBP1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr35:14,738,025...14,862,609
Ensembl chr35:14,738,029...14,864,169 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr28:11,547,457...11,572,248
Ensembl chr28:11,547,741...11,571,613 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More... NCBI chr26:20,131,658...20,157,532
Ensembl chr26:19,933,281...20,157,058 		JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More... NCBI chr21:40,725,089...40,770,665
Ensembl chr21:40,726,274...40,770,112 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... NCBI chr28:14,614,434...14,617,138
Ensembl chr28:14,614,584...14,653,629 		JBrowse link
G KXD1 KxDL motif containing 1 ISO MouseDO NCBI chr20:44,480,634...44,489,287
Ensembl chr20:44,481,557...44,489,188 		JBrowse link
G RAB38 RAB38, member RAS oncogene family ISO RGD PMID:19897744 RGD:2324690 NCBI chr21:11,769,924...11,823,546
Ensembl chr21:11,769,351...11,822,815 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO MouseDO NCBI chr 8:4,244,731...4,250,836
Ensembl chr 8:4,244,781...4,250,744 		JBrowse link
G SLC7A11 solute carrier family 7 member 11 ISO MouseDO NCBI chr19:4,289,792...4,379,060
Ensembl chr19:4,289,850...4,389,048 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes ISO MouseDO NCBI chr26:7,090,669...7,119,913 JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO OMIM:203300 MouseDO NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 OMIM
ClinVar		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr28:11,547,457...11,572,248
Ensembl chr28:11,547,741...11,571,613 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO OMIM:203300 MouseDO NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521 		JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:32565547 NCBI chr35:7,860,336...7,998,461
Ensembl chr35:7,955,923...7,998,505 		JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGGF1 angiogenic factor with G-patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,578,050...29,682,265
Ensembl chr 3:29,647,592...29,682,776 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 OMIM
ClinVar		 PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532 NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G ARSB arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:27,870,111...28,034,906
Ensembl chr 3:27,870,151...28,034,906 		JBrowse link
G CRHBP corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,726,316...29,737,748
Ensembl chr 3:29,705,031...29,758,111 		JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,801,119...29,810,006
Ensembl chr 3:29,800,211...29,810,180 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
G LHFPL2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:28,255,389...28,279,510 JBrowse link
G OTP orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,063,359...29,071,533
Ensembl chr 3:29,064,681...29,071,509 		JBrowse link
G PDE8B phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,289,867...29,432,557
Ensembl chr 3:29,291,549...29,432,542 		JBrowse link
G S100Z S100 calcium binding protein Z ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,773,107...29,784,376 JBrowse link
G SCAMP1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:28,296,229...28,417,398
Ensembl chr 3:28,274,205...28,417,496 		JBrowse link
G TBCA tubulin folding cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:28,972,469...29,027,436
Ensembl chr 3:28,910,025...29,025,297 		JBrowse link
G WDR41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 3:29,082,481...29,286,632
Ensembl chr 3:29,073,073...29,286,681 		JBrowse link
G ZBED3 zinc finger BED-type containing 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More... NCBI chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555 		JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis ClinVar PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 NCBI chr28:11,547,457...11,572,248
Ensembl chr28:11,547,741...11,571,613 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 OMIM
ClinVar		 PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More... NCBI chr26:20,131,658...20,157,532
Ensembl chr26:19,933,281...20,157,058 		JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 OMIM
ClinVar		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More... NCBI chr21:40,725,089...40,770,665
Ensembl chr21:40,726,274...40,770,112 		JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 OMIM
ClinVar		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr28:14,614,434...14,617,138
Ensembl chr28:14,614,584...14,653,629 		JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DTNBP1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 OMIM
ClinVar		 PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More... NCBI chr35:14,738,025...14,862,609
Ensembl chr35:14,738,029...14,864,169 		JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 OMIM
ClinVar		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:110,325,351...110,328,226
Ensembl chr 1:110,326,843...110,327,442 		JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar		 PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		JBrowse link
histidinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAL histidine ammonia-lyase ISO ClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidine OMIM
ClinVar		 PMID:15173056 PMID:15806399 PMID:23361591 PMID:23806086 PMID:24088041 More... NCBI chr15:35,767,314...35,791,086
Ensembl chr15:35,759,672...35,791,003 		JBrowse link
HMG-CoA synthase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY OMIM
ClinVar		 PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 More... NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency ClinVar NCBI chr17:56,806,912...56,833,765 JBrowse link
holocarboxylase synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBR3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr31:31,416,441...31,423,797
Ensembl chr31:31,416,333...31,423,739 		JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784 		JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
G DOP1B DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr31:31,431,150...31,536,424
Ensembl chr31:31,430,887...31,536,379 		JBrowse link
G HLCS holocarboxylase synthetase ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency OMIM
ClinVar		 PMID:6133032 PMID:7842009 PMID:8319716 PMID:8541348 PMID:8817339 More... NCBI chr31:31,934,796...32,159,866
Ensembl chr31:31,937,087...32,150,861 		JBrowse link
G LOC610164 carbonyl reductase [NADPH] 1 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr31:31,316,573...31,321,413 JBrowse link
G MORC3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr31:31,547,783...31,589,185
Ensembl chr31:31,547,894...31,586,541 		JBrowse link
G SETD4 SET domain containing 4 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr31:31,283,623...31,309,527
Ensembl chr31:31,150,596...31,309,687 		JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr31:31,879,483...31,929,531
Ensembl chr31:31,879,360...31,930,359 		JBrowse link
homocarnosinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNDP1 carnosine dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4172777 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976 		JBrowse link
homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,574,406...36,627,598
Ensembl chr31:36,553,380...36,620,043 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,715,529...38,799,353
Ensembl chr31:38,678,184...38,796,521 		JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,855,323...37,879,816
Ensembl chr31:37,844,109...37,879,741 		JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,139,513...38,149,294
Ensembl chr31:38,139,099...38,149,296 		JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,291,853...36,355,472
Ensembl chr31:36,274,539...36,348,657 		JBrowse link
G C31H21orf58 chromosome 31 C21orf58 homolog ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,567,515...39,576,238
Ensembl chr31:39,567,614...39,574,285 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: CBS-related condition | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive OMIM
ClinVar		 PMID:1301198 PMID:2056790 PMID:2152033 PMID:6711564 PMID:7506602 More... NCBI chr31:37,230,900...37,247,170 JBrowse link
G CFAP410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,183,181...38,192,739
Ensembl chr31:38,183,188...38,196,113 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,915,872...38,957,484 JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,433,174...39,448,051 JBrowse link
G CRYAA crystallin alpha A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,307,070...37,310,262
Ensembl chr31:37,307,093...37,310,247 		JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,099,100...38,111,432 JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715 		JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,028,087...38,037,173 JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,543,448...37,643,534
Ensembl chr31:37,503,052...37,643,505 		JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,084,861...38,094,743 JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018 		JBrowse link
G LOC100685322 keratin-associated protein 2-3-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr 9:21,616,121...21,616,992 JBrowse link
G LOC100855886 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,396,048...38,396,735 JBrowse link
G LOC102151833 keratin-associated protein 10-7-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,306,220...38,307,536 JBrowse link
G LOC610875 keratin-associated protein 10-8 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,034,027...36,035,010 JBrowse link
G LOC610882 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,039,505...36,040,735 JBrowse link
G LOC610887 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,042,743...36,043,443 JBrowse link
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,260,952...38,265,951
Ensembl chr31:38,261,199...38,261,972 		JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042 		JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,507,714...39,559,855
Ensembl chr31:39,507,729...39,561,674 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria ClinVar PMID:10484769 PMID:15714522 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312 		JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,118,201...37,131,035
Ensembl chr31:37,118,247...37,130,810 		JBrowse link
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,025,744...39,275,239
Ensembl chr31:39,025,731...39,275,239 		JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,576,344...39,677,118
Ensembl chr31:39,578,039...39,676,820 		JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809 		JBrowse link
G PDXK pyridoxal kinase ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,686,002...37,710,059
Ensembl chr31:37,685,492...37,707,767 		JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,153,638...38,178,741
Ensembl chr31:38,156,451...38,178,507 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: CBS deficiency ClinVar PMID:25741868 NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141 		JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,189,753...37,223,844
Ensembl chr31:37,192,992...37,220,926 		JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,813,252...38,821,656
Ensembl chr31:38,813,255...38,818,734 		JBrowse link
G PRDM15 PR/SET domain 15 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,220,532...36,285,752
Ensembl chr31:36,223,507...36,286,699 		JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,494,608...38,513,997 JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,000,181...38,012,882 JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600 		JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,732,567...37,779,319
Ensembl chr31:37,732,618...37,746,376 		JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,652,584...37,670,396
Ensembl chr31:37,652,863...37,667,895 		JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,771,829...36,811,067
Ensembl chr31:36,789,571...36,812,050 		JBrowse link
G SIK1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,455,130...37,466,829 JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094 		JBrowse link
G SLC37A1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,815,384...36,889,563
Ensembl chr31:36,828,382...36,889,520 		JBrowse link
G SLX9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,559,175...38,593,152
Ensembl chr31:38,558,629...38,591,996 		JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,467,365...39,475,061
Ensembl chr31:39,459,176...39,475,074 		JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,472,076...38,484,358 JBrowse link
G TFF1 trefoil factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		JBrowse link
G TFF2 trefoil factor 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,665,647...36,668,423
Ensembl chr31:36,665,514...36,668,440 		JBrowse link
G TFF3 trefoil factor 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,638,762...36,641,696 JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,910,480...37,999,559
Ensembl chr31:37,910,322...37,997,188 		JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,201,075...38,224,076 JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,263,265...37,276,710 JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,735,790...36,778,405
Ensembl chr31:36,735,835...36,778,405 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:38,432,855...38,470,202
Ensembl chr31:38,433,332...38,470,136 		JBrowse link
G UMODL1 uromodulin like 1 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,452,008...36,510,649
Ensembl chr31:36,449,660...36,510,683 		JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788 		JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:39,559,933...39,565,775
Ensembl chr31:39,561,849...39,565,074 		JBrowse link
G ZBTB21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED ClinVar PMID:10338090 PMID:12124992 PMID:28492532 NCBI chr31:36,378,200...36,394,894
Ensembl chr31:36,379,566...36,394,911 		JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr31:37,230,900...37,247,170 JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE ClinVar
OMIM		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312 		JBrowse link
homocystinuria-megaloblastic anemia cblG type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
hydroxykynureninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KYNU kynureninase ISO ClinVar Annotator: match by term: Hydroxykynureninuria OMIM
ClinVar		 PMID:25741868 NCBI chr19:45,022,450...45,150,977
Ensembl chr19:45,022,072...45,149,339 		JBrowse link
hyperargininemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 susceptibility ISO ClinVar Annotator: match by term: Arginase deficiency OMIM
ClinVar
RGD		 PMID:480013 PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 More... RGD:1599208 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305 		JBrowse link
G ARNTL aryl hydrocarbon receptor nuclear translocator like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27056296 NCBI chr21:36,254,235...36,323,915
Ensembl chr21:36,290,070...36,323,622 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718 		JBrowse link
G ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:28492532 NCBI chr12:97,426...195,939
Ensembl chr12:97,483...182,082 		JBrowse link
G MED23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Arginase deficiency ClinVar PMID:624188 PMID:1463019 PMID:1598908 PMID:2365823 PMID:7649538 More... NCBI chr12:195,638...240,741
Ensembl chr12:195,726...240,516 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:71,454,814...71,830,482
Ensembl chr 3:71,454,585...71,826,749 		JBrowse link
G CHRNA9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:72,190,431...72,204,092
Ensembl chr 3:72,190,555...72,203,404 		JBrowse link
G FAM114A1 family with sequence similarity 114 member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:73,424,277...73,494,419
Ensembl chr 3:73,427,758...73,495,256 		JBrowse link
G KLB klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:72,996,725...73,033,566
Ensembl chr 3:72,998,816...73,033,651 		JBrowse link
G KLHL5 kelch like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:73,258,925...73,347,262
Ensembl chr 3:73,262,895...73,344,879 		JBrowse link
G LIAS lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr 3:72,973,527...72,989,522
Ensembl chr 3:72,949,512...72,989,487 		JBrowse link
G LIMCH1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr13:38,518,653...38,816,804
Ensembl chr13:38,518,644...38,814,369 		JBrowse link
G N4BP2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:72,323,016...72,439,593
Ensembl chr 3:72,277,190...72,439,615 		JBrowse link
G NSUN7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:71,832,051...71,891,020
Ensembl chr 3:71,833,198...71,891,453 		JBrowse link
G PDS5A PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:72,521,839...72,673,164
Ensembl chr 3:72,521,868...72,673,164 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854 		JBrowse link
G RBM47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:71,985,725...72,135,271
Ensembl chr 3:71,985,831...72,132,918 		JBrowse link
G RFC1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096 		JBrowse link
G RHOH ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:72,272,446...72,277,015
Ensembl chr 3:72,276,418...72,276,993 		JBrowse link
G RPL9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 3:72,989,526...72,993,944
Ensembl chr 3:72,989,592...72,993,949 		JBrowse link
G SMIM14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:72,839,897...72,934,335
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G TLR1 toll like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624 		JBrowse link
G TLR10 toll like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:73,561,596...73,589,286
Ensembl chr 3:73,568,321...73,570,744 		JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099 		JBrowse link
G TMEM156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:73,363,397...73,409,729
Ensembl chr 3:73,362,879...73,409,737 		JBrowse link
G UBE2K ubiquitin conjugating enzyme E2 K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:72,713,035...72,780,199
Ensembl chr 3:72,717,236...72,780,210 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512 		JBrowse link
hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24386282 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:12208805 RGD:1598896 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767 		JBrowse link
G APOE apolipoprotein E treatment ISO RGD PMID:22762542 RGD:6903856 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cerebral cortex RGD PMID:23467881 RGD:11576285 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167 		JBrowse link
G BCHE butyrylcholinesterase ISO Protein:increased expression:serum RGD PMID:16442260 RGD:1599454 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		JBrowse link
G CBS cystathionine beta-synthase susceptibility ISO associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
ClinVar Annotator: match by term: Hyperhomocysteinemia		 RGD
ClinVar		 PMID:7762555 PMID:10704624 PMID:12686134 PMID:16205833 PMID:16479318 More... RGD:40903036 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:17977907 RGD:8549578 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CTH cystathionine gamma-lyase ISO ClinVar Annotator: match by term: Homocysteine, total plasma, elevated ClinVar PMID:15151507 PMID:25741868 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A ISO protein:decreased expression:heart (rat) RGD PMID:19906449 RGD:401959215 NCBI chr31:32,564,970...32,655,232
Ensembl chr31:32,511,502...32,652,572 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO RGD PMID:19371338 RGD:4892572 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19371338 RGD:4892572 NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463 		JBrowse link
G F10 coagulation factor X treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr22:60,585,563...60,597,027
Ensembl chr22:60,571,822...60,597,024 		JBrowse link
G F12 coagulation factor XII treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:16046705 RGD:1601105 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:16046705 RGD:1601105 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:lung RGD PMID:21717134 RGD:10449171 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16317120 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:25457025 RGD:13792697 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:descending aorta, endothelial cells (rat) RGD PMID:20871618 RGD:4144131 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:renal glomerulus (mouse) RGD PMID:22647887 RGD:7175168 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G LOC106557449 alveolar macrophage chemotactic factor-like ISO protein:increased expression:plasma RGD PMID:11950713 RGD:5135249 NCBI chr13:62,514,244...62,516,439
Ensembl chr13:62,513,898...62,515,218 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO DNA:missense mutations, nonsense mutations:CDS:multiple (human)
associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)
CTD Direct Evidence: marker/mechanism|therapeutic		 RGD
CTD		 PMID:10459572 PMID:10679944 PMID:12471611 PMID:15226090 PMID:16317120 More... RGD:10449400 RGD:1601421 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO RGD PMID:12068375 RGD:1601425 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16575899 PMID:17369066 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:21044172 RGD:5144149 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546 		JBrowse link
G NPPB natriuretic peptide B ISO mRNA, protein:increased expression:heart, plasma RGD PMID:17303690 RGD:1642265 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292331 PMID:19028542 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G PYCARD PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204075 NCBI chr 9:42,638,670...42,650,241
Ensembl chr 9:42,643,328...42,650,188 		JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:24563435 RGD:11035307 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:24739303 RGD:13204791 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12615666 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
hyperlysinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Hyperlysinemia OMIM
ClinVar		 PMID:934735 PMID:10775527 PMID:23570448 PMID:23890588 PMID:25741868 More... NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212 		JBrowse link
hypermethioninemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO ClinVar Annotator: match by term: Hypermethioninemia ClinVar PMID:25741868 NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767 		JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11596649 PMID:11810299 NCBI chr12:11,500,363...11,503,075
Ensembl chr12:11,500,392...11,503,481 		JBrowse link
G MAT1A methionine adenosyltransferase 1A ISO ClinVar Annotator: match by term: Deficiency of methionine adenosyltransferase | ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar Annotator: match by term: Hypermethioninemia OMIM
ClinVar		 PMID:1527987 PMID:1683972 PMID:3812486 PMID:4421454 PMID:7229751 More... NCBI chr 4:29,450,857...29,467,251
Ensembl chr 4:29,452,601...29,466,929 		JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADK adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr 4:24,540,626...25,047,032
Ensembl chr 4:24,540,659...25,046,464 		JBrowse link
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCY adenosylhomocysteinase ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase OMIM
ClinVar		 PMID:9536098 PMID:15024124 PMID:16435181 PMID:16736098 PMID:16872278 More... NCBI chr24:23,410,553...23,423,494
Ensembl chr24:23,411,140...23,419,767 		JBrowse link
Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency ClinVar PMID:7493990 PMID:8178819 PMID:10220141 PMID:22237589 PMID:25741868 More... NCBI chr 5:20,883,128...20,912,318
Ensembl chr 5:20,896,236...20,912,297 		JBrowse link
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 ISO ClinVar Annotator: match by term: DNAJC12-related condition | ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient OMIM
ClinVar		 PMID:9159748 PMID:25741868 PMID:28132689 PMID:28492532 PMID:28794131 More... NCBI chr 4:19,096,656...19,147,722
Ensembl chr 4:19,096,656...19,147,655 		JBrowse link
Hyperphenylalaninemia, Non-Pku Mild term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD ClinVar PMID:1301200 PMID:8364546 PMID:9450897 PMID:9634518 PMID:10234516 More... NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
hyperprolinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Hyperprolinemia ClinVar NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
hyperprolinemia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC477562 proline dehydrogenase 1, mitochondrial susceptibility ISO ClinVar Annotator: match by term: Proline dehydrogenase deficiency ClinVar
OMIM		 PMID:9536098 PMID:11510941 PMID:11891283 PMID:12217952 PMID:12525555 More... NCBI chr26:29,039,007...29,059,722 JBrowse link
hyperprolinemia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR7A2 aldo-keto reductase family 7 member A2 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,334,179...79,343,880
Ensembl chr 2:79,334,205...79,343,007 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 OMIM
ClinVar		 PMID:2624476 PMID:9536098 PMID:9700195 PMID:16199547 PMID:17576681 More... NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820 		JBrowse link
G C1QA complement C1q A chain ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977 		JBrowse link
G C1QB complement C1q B chain ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:76,650,440...76,655,546
Ensembl chr 2:76,650,586...76,655,549 		JBrowse link
G C1QC complement C1q C chain ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:76,660,039...76,664,602
Ensembl chr 2:76,660,035...76,664,577 		JBrowse link
G CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532
G CAPZB capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,182,668...79,311,529
Ensembl chr 2:79,181,851...79,311,518 		JBrowse link
G CDA cytidine deaminase ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,305,328...78,327,229
Ensembl chr 2:78,304,726...78,327,247 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,268,540...78,275,789
Ensembl chr 2:78,267,912...78,294,463 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		JBrowse link
G EIF4G3 eukaryotic translation initiation factor 4 gamma 3 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,822,686...78,149,943
Ensembl chr 2:77,822,688...78,149,443 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314 		JBrowse link
G EPHA8 EPH receptor A8 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:76,703,538...76,739,327
Ensembl chr 2:76,703,524...76,739,259 		JBrowse link
G FAM43B family with sequence similarity 43 member B ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532
G HP1BP3 heterochromatin protein 1 binding protein 3 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,164,239...78,203,032
Ensembl chr 2:78,164,173...78,201,555 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,022,790...79,033,975
Ensembl chr 2:79,022,775...79,033,975 		JBrowse link
G IFFO2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,636,428...79,685,207
Ensembl chr 2:79,636,302...79,680,696 		JBrowse link
G KIF17 kinesin family member 17 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,224,838...78,266,612
Ensembl chr 2:78,224,461...78,266,610 		JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126 		JBrowse link
G LOC403934 cell division cycle 42 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211 		JBrowse link
G LOC478196 proproteinase E ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,223,095...77,228,755 JBrowse link
G MRTO4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,360,897...79,367,038
Ensembl chr 2:79,360,970...79,366,935 		JBrowse link
G MUL1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,394,013...78,402,032
Ensembl chr 2:78,394,040...78,425,482 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,040,206...79,102,792
Ensembl chr 2:79,041,105...79,102,820 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,068,865...79,102,818
Ensembl chr 2:79,041,105...79,102,820 		JBrowse link
G OTUD3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,843,627...78,875,215
Ensembl chr 2:78,847,177...78,875,121 		JBrowse link
G PINK1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123 		JBrowse link
G PLA2G2C phospholipase A2 group IIC ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,609,852...78,700,940 JBrowse link
G PLA2G2D phospholipase A2 group IID ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,739,826...78,745,839
Ensembl chr 2:78,739,769...78,745,920 		JBrowse link
G PLA2G2E phospholipase A2 group IIE ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,834,820...78,838,058
Ensembl chr 2:78,831,309...78,841,821 		JBrowse link
G PLA2G2F phospholipase A2 group IIF ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,714,251...78,724,257
Ensembl chr 2:78,716,228...78,723,984 		JBrowse link
G PLA2G5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,762,851...78,781,642
Ensembl chr 2:78,762,852...78,781,983 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205 		JBrowse link
G RNF186 ring finger protein 186 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,915,131...78,916,909
Ensembl chr 2:78,915,339...78,916,037 		JBrowse link
G SH2D5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,210,752...78,223,629
Ensembl chr 2:78,211,112...78,223,634 		JBrowse link
G SLC66A1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,318,200...79,334,047
Ensembl chr 2:79,318,345...79,320,885 		JBrowse link
G TMCO4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,930,982...79,022,247
Ensembl chr 2:78,937,040...79,022,250 		JBrowse link
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:79,403,336...79,536,385
Ensembl chr 2:79,403,351...79,536,208 		JBrowse link
G UBXN10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,670,300...78,680,361
Ensembl chr 2:78,674,817...78,675,671 		JBrowse link
G USP48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,401,101...77,484,139
Ensembl chr 2:77,379,440...77,484,089 		JBrowse link
G VWA5B1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:78,525,507...78,582,674
Ensembl chr 2:78,528,654...78,593,983 		JBrowse link
G WNT4 Wnt family member 4 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:77,112,045...77,129,702
Ensembl chr 2:77,101,300...77,127,111 		JBrowse link
G ZBTB40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Hyperprolinemia type 2 ClinVar PMID:28492532 NCBI chr 2:76,767,650...76,841,353
Ensembl chr 2:76,769,571...76,818,727 		JBrowse link
Hypertaurinuric Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy OMIM
ClinVar		 PMID:25741868 PMID:31345061 PMID:31903486 NCBI chr20:4,544,739...4,616,797
Ensembl chr20:4,531,771...4,620,605 		JBrowse link
HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCAT2 branched chain amino acid transaminase 2 ISO ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia OMIM
ClinVar		 PMID:25653144 NCBI chr 1:107,539,125...107,549,286
Ensembl chr 1:107,538,465...107,549,234 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chr10:46,792,795...47,185,951
Ensembl chr10:46,792,936...47,185,416 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,590,110...46,680,792
Ensembl chr10:46,590,079...46,665,866 		JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition OMIM
ClinVar		 PMID:24130096 PMID:24728327 PMID:25741868 PMID:26619011 PMID:28492532 More... NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLS glutaminase ISO ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development OMIM
ClinVar		 PMID:25741868 PMID:30239721 NCBI chr37:1,433,640...1,508,347
Ensembl chr37:1,433,398...1,508,146 		JBrowse link
Isobutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase OMIM
ClinVar		 PMID:9536098 PMID:9889013 PMID:12359132 PMID:15505379 PMID:16199547 More... NCBI chr 5:974,673...992,143
Ensembl chr 5:976,008...992,330 		JBrowse link
G IGSF9B immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 5:1,273,897...1,330,449
Ensembl chr 5:1,273,444...1,320,283 		JBrowse link
G JAM3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 5:1,082,619...1,165,188
Ensembl chr 5:1,084,560...1,165,121 		JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 5:1,021,588...1,081,846
Ensembl chr 5:1,020,690...1,081,446 		JBrowse link
G THYN1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 5:992,126...999,609
Ensembl chr 5:993,705...999,597 		JBrowse link
G VPS26B VPS26, retromer complex component B ISO ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase ClinVar PMID:16857760 PMID:21109224 PMID:23255084 PMID:28492532 NCBI chr 5:1,000,035...1,020,195
Ensembl chr 5:999,392...1,020,196 		JBrowse link
isolated sulfite oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUOX sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria OMIM
ClinVar		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chr10:327,656...331,826
Ensembl chr10:327,671...331,825 		JBrowse link
isovaleric acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:1310317 PMID:2063866 PMID:2318964 PMID:9536098 PMID:9665741 More... NCBI chr30:7,584,122...7,594,599
Ensembl chr30:7,584,086...7,594,150 		JBrowse link
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMAC2L distal membrane arm assembly component 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741905 More... NCBI chr 8:26,760,350...26,770,971
Ensembl chr 8:26,760,530...26,770,920 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition OMIM
ClinVar		 PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 PMID:16199547 More... NCBI chr 8:26,721,501...26,760,411
Ensembl chr 8:26,723,309...26,760,984 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr 8:26,636,849...26,698,837
Ensembl chr 8:26,637,895...26,717,781 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr 8:26,611,333...26,636,700
Ensembl chr 8:26,625,677...26,636,316 		JBrowse link
leucine-sensitive hypoglycemia of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy OMIM
ClinVar		 PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840 PMID:10204114 More... NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: Leucine-induced hypoglycemia ClinVar PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532 NCBI chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723 		JBrowse link
Lysine Intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Lysine intolerance ClinVar PMID:25741868 PMID:28492532 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212 		JBrowse link
lysinuric protein intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACIN1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,370,469...3,405,710
Ensembl chr 8:3,371,004...3,405,682 		JBrowse link
G ADCY4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,288,708...4,304,092
Ensembl chr 8:4,288,714...4,304,589 		JBrowse link
G AJUBA ajuba LIM protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,272,408...3,302,179
Ensembl chr 8:3,272,405...3,301,708 		JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,785,085...3,793,081
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G BCL2L2 BCL2 like 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,569,335...3,573,922
Ensembl chr 8:3,569,399...3,586,070 		JBrowse link
G C8H14orf93 chromosome 8 C14orf93 homolog ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,305,532...3,316,072
Ensembl chr 8:3,305,751...3,316,079 		JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,059,154...4,076,385
Ensembl chr 8:4,059,133...4,076,396 		JBrowse link
G CBLN3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,399,188...4,402,478
Ensembl chr 8:4,400,462...4,401,754 		JBrowse link
G CDH24 cadherin 24 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,359,452...3,369,590
Ensembl chr 8:3,359,875...3,367,942 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,423,046...3,425,595
Ensembl chr 8:3,423,040...3,425,217 		JBrowse link
G CHMP4A charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,195,766...4,200,101
Ensembl chr 8:4,195,975...4,200,086 		JBrowse link
G CIDEB cell death inducing DFFA like effector b ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,275,700...4,278,612 JBrowse link
G CMA1 chymase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189 		JBrowse link
G CMTM5 CKLF like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,625,246...3,627,964
Ensembl chr 8:3,625,309...3,661,444 		JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,046,532...4,058,498
Ensembl chr 8:4,046,544...4,084,744 		JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,078,240...4,084,744
Ensembl chr 8:4,046,544...4,084,744 		JBrowse link
G CTSG cathepsin G ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,483,327...4,485,933
Ensembl chr 8:4,470,577...4,512,628 		JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,115,756...4,124,329
Ensembl chr 8:4,116,912...4,123,596 		JBrowse link
G DHRS1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,263,707...4,269,453
Ensembl chr 8:4,263,700...4,270,271 		JBrowse link
G DHRS2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,820,269...3,847,217
Ensembl chr 8:3,836,476...3,845,916 		JBrowse link
G EFS embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,600,597...3,612,563
Ensembl chr 8:3,600,589...3,613,947 		JBrowse link
G EMC9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,133,997...4,136,144
Ensembl chr 8:4,134,020...4,136,290 		JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,127,148...4,128,779
Ensembl chr 8:4,127,488...4,128,794 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,213,238...4,220,740
Ensembl chr 8:4,213,373...4,220,740 		JBrowse link
G GZMB granzyme B ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,508,718...4,511,824
Ensembl chr 8:4,470,577...4,512,628 		JBrowse link
G HOMEZ homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,545,434...3,558,923
Ensembl chr 8:3,545,472...3,558,440 		JBrowse link
G IL25 interleukin 25 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043 		JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,171,525...4,180,666
Ensembl chr 8:4,171,527...4,181,151 		JBrowse link
G IRF9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,152,146...4,157,201 JBrowse link
G JPH4 junctophilin 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,793,413...3,803,831
Ensembl chr 8:3,794,734...3,802,082 		JBrowse link
G KHNYN KH and NYN domain containing ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,402,719...4,411,688
Ensembl chr 8:4,403,201...4,411,598 		JBrowse link
G LOC480264 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,200,466...4,201,945
Ensembl chr 8:4,200,472...4,201,950 		JBrowse link
G LOC607014 uncharacterized protein C14orf119 homolog ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr33:16,805,934...16,806,688 JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,208,710...3,214,888
Ensembl chr 8:3,208,269...3,382,311 		JBrowse link
G LTB4R leukotriene B4 receptor ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,282,924...4,286,869
Ensembl chr 8:4,285,323...4,286,534 		JBrowse link
G LTB4R2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,278,047...4,282,326
Ensembl chr 8:4,280,869...4,281,948 		JBrowse link
G MIR208A microRNA mir-208a ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,636,919...3,636,987
Ensembl chr 8:3,636,919...3,636,987 		JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,665,163...3,665,236
Ensembl chr 8:3,665,163...3,665,236 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122 		JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,177,010...3,181,526
Ensembl chr 8:3,177,093...3,181,518 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,202,621...4,213,090
Ensembl chr 8:4,202,621...4,213,049 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,337,098...4,346,409
Ensembl chr 8:4,336,450...4,346,100 		JBrowse link
G NGDN neuroguidin ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,704,430...3,713,517
Ensembl chr 8:3,705,005...3,713,517 		JBrowse link
G NOP9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,270,192...4,275,722
Ensembl chr 8:4,270,243...4,275,677 		JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,086,487...4,090,373
Ensembl chr 8:4,086,508...4,089,216 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,368,702...4,389,565
Ensembl chr 8:4,368,560...4,387,842 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:18716612 NCBI chr 8:3,108,669...3,132,337
Ensembl chr 8:3,108,757...3,132,334 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,580,768...3,585,546
Ensembl chr 8:3,569,399...3,586,070 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,099,016...4,107,870
Ensembl chr 8:4,098,671...4,107,865 		JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,559,296...3,564,849
Ensembl chr 8:3,563,457...3,564,524 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456 		JBrowse link
G PSMB11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,355,239...3,356,505 JBrowse link
G PSMB5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,344,157...3,349,921
Ensembl chr 8:3,344,233...3,349,926 		JBrowse link
G PSME1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,131,197...4,134,001
Ensembl chr 8:4,131,345...4,134,006 		JBrowse link
G PSME2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,137,247...4,141,380
Ensembl chr 8:4,137,247...4,140,706 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,244,731...4,250,836
Ensembl chr 8:4,244,781...4,250,744 		JBrowse link
G RBM23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,233,715...3,247,014
Ensembl chr 8:3,234,859...3,246,981 		JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,165,637...4,171,488
Ensembl chr 8:4,165,879...4,171,486 		JBrowse link
G REM2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,215,023...3,223,470
Ensembl chr 8:3,208,269...3,382,311 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325 		JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,509,481...3,552,600
Ensembl chr 8:3,509,638...3,544,740 		JBrowse link
G RNF31 ring finger protein 31 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,141,501...4,151,999 JBrowse link
G SDR39U1 short chain dehydrogenase/reductase family 39U member 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,412,944...4,416,013
Ensembl chr 8:4,412,951...4,416,013 		JBrowse link
G SLC22A17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,594,572...3,600,380
Ensembl chr 8:3,594,572...3,600,286 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance | ClinVar Annotator: match by term: SLC7A7-related condition OMIM
ClinVar		 PMID:9536098 PMID:9829974 PMID:10080182 PMID:10080183 PMID:10631139 More... NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644 		JBrowse link
G THTPA thiamine triphosphatase ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,781,931...3,785,093
Ensembl chr 8:3,782,163...3,785,394 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512 		JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,180,496...4,186,249 JBrowse link
G TSSK4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:4,192,060...4,195,052
Ensembl chr 8:4,192,230...4,194,685 		JBrowse link
G ZFHX2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Lysinuric protein intolerance ClinVar PMID:28492532 NCBI chr 8:3,750,043...3,782,679
Ensembl chr 8:3,750,230...3,763,829 		JBrowse link
Maleylacetoacetate Isomerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSTZ1 glutathione S-transferase zeta 1 ISO ClinVar Annotator: match by term: Maleylacetoacetate isomerase deficiency OMIM
ClinVar		 PMID:25741868 PMID:27876694 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439 		JBrowse link
maple syrup urine disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,031,906...113,037,418
Ensembl chr 1:113,031,764...113,036,229 		JBrowse link
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:50,039,661...50,112,543
Ensembl chr 6:50,041,947...50,112,279 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131 		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 1:112,391,670...112,410,160 JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G AXL AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,699,679...112,727,434
Ensembl chr 1:112,700,365...112,726,960 		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 1:112,576,992...112,579,104 JBrowse link
G B9D2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BCAT2 branched chain amino acid transaminase 2 ISO OMIM:246900 | OMIM:248600 | OMIM:615135
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:14755340 RGD:1300291 NCBI chr 1:107,539,125...107,549,286
Ensembl chr 1:107,538,465...107,549,234 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant		 ClinVar PMID:1356170 PMID:1682165 PMID:1867199 PMID:1885764 PMID:1943689 More... NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant		 ClinVar PMID:8161368 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 More... NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		JBrowse link
G BCKDK branched chain keto acid dehydrogenase kinase ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant ClinVar PMID:25741868 PMID:35205278 NCBI chr 6:17,128,615...17,132,925
Ensembl chr 6:17,128,824...17,133,585 		JBrowse link
G BLVRB biliverdin reductase B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,244,484...113,258,170
Ensembl chr 1:113,244,503...113,258,073 		JBrowse link
G C1H19orf47 chromosome 1 C19orf47 homolog ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,325,289...113,353,039
Ensembl chr 1:113,322,757...113,343,736 		JBrowse link
G CCDC97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,648,610...112,659,740
Ensembl chr 1:112,650,467...112,659,650 		JBrowse link
G CCNP cyclin P ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,412,012...113,417,046
Ensembl chr 1:113,415,225...113,416,496 		JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,411,281...112,414,827
Ensembl chr 1:112,411,281...112,427,381 		JBrowse link
G CDC14A cell division cycle 14A ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665 		JBrowse link
G CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 1:111,745,413...111,756,011 JBrowse link
G CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:111,812,571...111,834,985
Ensembl chr 1:111,745,413...111,917,830 		JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082 		JBrowse link
G CNFN cornifelin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,014,089...112,015,884
Ensembl chr 1:112,014,746...112,015,784 		JBrowse link
G COQ8B coenzyme Q8B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,056,369...113,075,773
Ensembl chr 1:113,057,141...113,102,074 		JBrowse link
G CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,932,246...112,938,248
Ensembl chr 1:112,931,985...112,938,350 		JBrowse link
G CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076 		JBrowse link
G CYP2B6 cytochrome P450 2B11 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293 		JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,973,776...112,986,419
Ensembl chr 1:112,974,847...112,986,123 		JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,735,586...112,747,534
Ensembl chr 1:112,736,706...112,747,555 		JBrowse link
G DBT dihydrolipoamide branched chain transacylase E2 ISO ClinVar Annotator: match by term: Maple syrup urine disease
ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease		 ClinVar PMID:1547285 PMID:1847055 PMID:8430702 PMID:9239422 PMID:9536098 More... NCBI chr 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
G DEDD2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,148,146...112,164,473
Ensembl chr 1:112,148,925...112,163,770 		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 chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		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 1:113,737,662...113,745,936 JBrowse link
G DMAC2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,567,786...112,573,471
Ensembl chr 1:112,567,837...112,573,531 		JBrowse link
G DMRTC2 DMRT like family C2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,434,046...112,439,712
Ensembl chr 1:112,434,485...112,439,088 		JBrowse link
G DPH5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,095,188...49,131,427
Ensembl chr 6:49,095,895...49,130,484 		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 1:113,644,191...113,652,441
Ensembl chr 1:113,644,100...113,828,488 		JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,992,779...113,001,836
Ensembl chr 1:112,992,780...113,000,677 		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 chr12:40,845,357...40,876,658
Ensembl chr12:40,846,202...40,876,758 		JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077 		JBrowse link
G ERICH4 glutamate rich 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,562,457...112,578,101
Ensembl chr 1:112,562,437...112,564,498 		JBrowse link
G EXOSC5 exosome component 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,599,519...112,609,039
Ensembl chr 1:112,599,568...112,608,941 		JBrowse link
G EXTL2 exostosin like glycosyltransferase 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,233,266...49,252,568
Ensembl chr 6:49,232,596...49,250,945 		JBrowse link
G FBL fibrillarin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,632,899...113,643,805
Ensembl chr 1:113,632,929...113,643,748 		JBrowse link
G FCGBP Fc gamma binding protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 1:113,586,795...113,625,932 JBrowse link
G GPR88 G protein-coupled receptor 88 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,473,399...49,478,504
Ensembl chr 6:49,475,536...49,476,669 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,270,157...112,321,672
Ensembl chr 1:112,270,424...112,321,672 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,129,116...112,138,714
Ensembl chr 1:112,103,825...112,138,559 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,297,079...113,304,399
Ensembl chr 1:113,297,258...113,304,101 		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 chr12:40,135,984...40,168,281
Ensembl chr12:40,135,988...40,168,266 		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 1:112,661,955...112,699,112
Ensembl chr 1:112,662,429...112,697,403 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,037,833...113,053,877
Ensembl chr 1:113,039,093...113,053,738 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:25741868 PMID:28492532 NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		JBrowse link
G LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292 		JBrowse link
G LEUTX leucine twenty homeobox ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532
G LIPE lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:111,987,862...112,006,492
Ensembl chr 1:111,988,029...112,006,461 		JBrowse link
G LOC100684414 zinc finger protein 780A-like ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,506,667...113,528,250 JBrowse link
G LOC612523 EP300-interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,712,193...113,713,420 JBrowse link
G LRRC39 leucine rich repeat containing 39 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,810,093...49,839,540
Ensembl chr 6:49,818,971...49,839,109 		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 1:113,124,109...113,152,283
Ensembl chr 1:113,124,109...113,150,442 		JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,439,900...112,445,935
Ensembl chr 1:112,443,993...112,445,932 		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 1:113,422,239...113,435,979
Ensembl chr 1:113,422,518...113,428,688 		JBrowse link
G MEGF8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,020,344...112,063,120
Ensembl chr 1:112,021,960...112,024,773 		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 6:49,902,739...49,927,631
Ensembl chr 6:49,903,484...49,927,638 		JBrowse link
G MIA MIA SH3 domain containing ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,012,765...113,016,742 JBrowse link
G NUMBL NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,076,678...113,103,114
Ensembl chr 1:113,057,141...113,102,074 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,078,131...112,080,874
Ensembl chr 1:112,063,074...112,080,873 		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 chr12:39,899,738...40,015,795
Ensembl chr12:39,904,603...40,032,194 		JBrowse link
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,800,620...113,811,478
Ensembl chr 1:113,800,305...113,810,683 		JBrowse link
G POU2F2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,165,908...112,252,712
Ensembl chr 1:112,220,511...112,321,672 		JBrowse link
G PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K ISO ClinVar Annotator: match by term: Maple syrup urine disease, mild variant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23086801 PMID:25741868 PMID:28492532 NCBI chr32:11,599,758...11,624,777
Ensembl chr32:11,597,814...11,623,390 		JBrowse link
G PRR19 proline rich 19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,074,045...112,076,036
Ensembl chr 1:112,073,031...112,075,316 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,279,940...113,294,042 JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,548,351...113,557,725
Ensembl chr 1:113,548,373...113,557,630 		JBrowse link
G RAB4B RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,003,317...113,011,978
Ensembl chr 1:113,003,318...113,011,947 		JBrowse link
G RABAC1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,351,416...112,354,010
Ensembl chr 1:112,351,388...112,354,045 		JBrowse link
G RPS16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,795,239...113,798,380
Ensembl chr 1:113,644,100...113,828,488 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381 		JBrowse link
G RTCA RNA 3'-terminal phosphate cyclase ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,711,984...49,759,977
Ensembl chr 6:49,718,271...49,747,389 		JBrowse link
G S1PR1 sphingosine-1-phosphate receptor 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:48,897,320...48,902,206
Ensembl chr 6:48,897,449...48,900,037 		JBrowse link
G SASS6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,859,597...49,902,407
Ensembl chr 6:49,859,182...49,900,757 		JBrowse link
G SELENOV selenoprotein V ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,718,244...113,730,599 JBrowse link
G SERTAD1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,270,199...113,273,112
Ensembl chr 1:113,272,051...113,272,764 		JBrowse link
G SERTAD3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,258,274...113,264,013
Ensembl chr 1:113,261,354...113,263,899 		JBrowse link
G SH3BGRL2 SH3 domain binding glutamate rich protein like 2 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 NCBI chr12:40,579,997...40,656,376
Ensembl chr12:40,597,149...40,654,005 		JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,154,285...113,165,988
Ensembl chr 1:113,154,460...113,165,992 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,142,520...49,232,251
Ensembl chr 6:49,147,142...49,232,241 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,954,148...49,976,260
Ensembl chr 6:49,950,821...49,976,260 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,018,268...113,030,827
Ensembl chr 1:113,018,304...113,030,734 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,167,251...113,243,071
Ensembl chr 1:113,168,484...113,240,934 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,759,419...113,788,490
Ensembl chr 1:113,759,423...113,788,447 		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 1:113,749,778...113,758,480
Ensembl chr 1:113,749,994...113,757,930 		JBrowse link
G TMEM145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,063,552...112,072,095
Ensembl chr 1:112,063,551...112,072,244 		JBrowse link
G TMEM91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,610,660...112,615,813 JBrowse link
G TRMT13 tRNA methyltransferase 13 homolog ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,836,551...49,859,458
Ensembl chr 6:49,839,047...49,859,316 		JBrowse link
G TTC9B tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:113,419,556...113,422,057
Ensembl chr 1:113,419,715...113,422,045 		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 chr12:40,915,733...40,959,423
Ensembl chr12:40,915,439...40,957,279 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Maple syrup urine disease ClinVar PMID:28492532 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
G ZNF526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,141,455...112,148,728
Ensembl chr 1:112,142,061...112,144,184 		JBrowse link
G ZNF574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Keto acid decarboxylase deficiency ClinVar PMID:28492532 NCBI chr 1:112,261,547...112,266,706 JBrowse link
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1A OMIM
ClinVar		 PMID:1356170 PMID:1867199 PMID:1885764 PMID:1943689 PMID:2060625 More... NCBI chr 1:112,579,345...112,599,163 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 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCKDHB branched chain keto acid dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Maple syrup urine disease type 1B ClinVar
OMIM		 PMID:8312380 PMID:8430702 PMID:9375800 PMID:9536098 PMID:11112664 More... NCBI chr12:41,009,798...41,224,802
Ensembl chr12:41,009,730...41,224,802 		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 6:49,753,233...49,805,493
Ensembl chr 6:49,753,323...49,805,882 		JBrowse link
Maternal Phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAH phenylalanine hydroxylase ISO RGD PMID:14654659 RGD:1601526 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G PSPH phosphoserine phosphatase ISO RGD PMID:7201630 RGD:2308873 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2H1orf167 chromosome 2 C1orf167 homolog ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 2:84,457,743...84,477,328 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency ClinVar
OMIM		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
Methylmalonate Semialdehyde Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency OMIM
ClinVar		 PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chr 8:47,280,872...47,304,460
Ensembl chr 8:47,282,235...47,304,283 		JBrowse link
G BBOF1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency ClinVar PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 More... NCBI chr 8:47,245,995...47,286,650
Ensembl chr 8:47,246,126...47,285,518 		JBrowse link
methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:9030548 PMID:21785126 PMID:21841779 PMID:22421630 PMID:25741868 More... NCBI chr 5:64,288,339...64,338,596
Ensembl chr 5:64,289,295...64,414,637 		JBrowse link
G CAVIN1 caveolae associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 9:20,511,079...20,525,973
Ensembl chr 9:20,511,089...20,524,794 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833 		JBrowse link
G CYCS cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr14:38,579,446...38,581,983
Ensembl chr14:38,579,446...38,581,983 		JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr36:2,678,749...2,780,173
Ensembl chr36:2,681,188...2,777,535 		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 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MMAA metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 More... NCBI chr15:44,221,082...44,243,530
Ensembl chr15:44,220,934...44,241,101 		JBrowse link
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:9536098 PMID:12471062 PMID:15523652 PMID:15781192 PMID:16199547 More... NCBI chr26:17,519,158...17,531,200
Ensembl chr26:17,519,199...17,529,514 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113 		JBrowse link
G MMUT methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
G SEPTIN11 septin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr32:1,553,208...1,608,132
Ensembl chr32:1,475,748...1,607,107 		JBrowse link
G SEPTIN2 septin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr25:51,296,486...51,330,508
Ensembl chr25:51,296,554...51,328,616 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr20:23,915,149...24,167,740
Ensembl chr20:23,895,802...24,182,869 		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 5:81,641,261...81,647,047
Ensembl chr 5:81,641,426...81,647,039 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 OMIM
ClinVar		 PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 More... NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		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:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		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:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		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:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		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:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		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:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		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 5:81,635,251...81,637,379
Ensembl chr 5:81,635,970...81,636,902 		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:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,815,982...121,820,790 JBrowse link
methylmalonic acidemia cblA type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr15:46,064,489...46,382,079
Ensembl chr15:46,070,312...46,381,839 		JBrowse link
G C15H4orf51 chromosome 15 C4orf51 homolog ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr15:44,255,853...44,282,782 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 chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463 		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 chr15:44,651,830...44,666,418
Ensembl chr15:44,651,830...44,666,418 		JBrowse link
G MMAA metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type OMIM
ClinVar		 PMID:9536098 PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 More... NCBI chr15:44,221,082...44,243,530
Ensembl chr15:44,220,934...44,241,101 		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 chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131 		JBrowse link
G POU4F2 POU class 4 homeobox 2 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr15:45,030,818...45,034,446
Ensembl chr15:45,031,094...45,032,784 		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 chr15:45,981,568...46,023,026
Ensembl chr15:45,955,356...46,022,854 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr15:44,718,085...44,957,787
Ensembl chr15:44,720,629...44,957,495 		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 chr15:45,955,521...45,979,986
Ensembl chr15:45,955,802...45,979,616 		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 chr15:45,093,105...45,338,890
Ensembl chr15:45,093,132...45,338,159 		JBrowse link
G ZNF827 zinc finger protein 827 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type ClinVar PMID:15523652 PMID:15781192 PMID:28492532 NCBI chr15:44,300,109...44,469,337
Ensembl chr15:44,303,300...44,468,680 		JBrowse link
methylmalonic acidemia cblB type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type OMIM
ClinVar		 PMID:9536098 PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 More... NCBI chr26:17,519,158...17,531,200
Ensembl chr26:17,519,199...17,529,514 		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 chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385 		JBrowse link
methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD320 CD320 molecule ISO ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34978764 NCBI chr20:52,886,087...52,890,361
Ensembl chr20:52,886,087...52,890,366 		JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chr 8:47,488,414...47,507,041
Ensembl chr 8:47,488,475...47,504,654 		JBrowse link
G DCDC2C doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr17:2,216,402...2,310,398
Ensembl chr17:2,216,391...2,310,174 		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:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		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 chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578 		JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar		 PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113 		JBrowse link
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr19:51,154,227...51,177,950
Ensembl chr19:51,154,249...51,177,836 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971 		JBrowse link
G THAP11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chr 5:81,635,251...81,637,379
Ensembl chr 5:81,635,970...81,636,902 		JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMADHC metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 OMIM
ClinVar		 PMID:5524089 PMID:9536098 PMID:15292234 PMID:16199547 PMID:17576681 More... NCBI chr19:51,154,227...51,177,950
Ensembl chr19:51,154,249...51,177,836 		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 chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483 		JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL19A1 collagen type XIX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr12:32,452,653...32,760,310
Ensembl chr12:32,449,744...32,755,226 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF ClinVar PMID:19136951 PMID:21303734 PMID:28492532 NCBI chr12:32,763,782...32,847,456
Ensembl chr12:32,764,496...32,847,574 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19136951 PMID:21303734 More... NCBI chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578 		JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar
OMIM		 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 8:47,488,414...47,507,041
Ensembl chr 8:47,488,475...47,504,654 		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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar NCBI chr20:49,446,162...49,461,812 JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113 		JBrowse link
G MMUT methylmalonyl-CoA mutase treatment ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency OMIM
ClinVar
RGD		 PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 More... RGD:13208535 NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Methylmalonic aciduria, mut type ClinVar PMID:25741868 PMID:28492532 NCBI chr18:43,506,531...43,513,735
Ensembl chr18:43,507,193...43,516,235 		JBrowse link
Methylmalonyl-CoA Epimerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,144,184...49,168,872
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625 		JBrowse link
G ANKRD53 ankyrin repeat domain 53 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,288,201...69,293,813
Ensembl chr10:69,286,164...69,298,600 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G AUP1 AUP1 lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,613,648...48,617,091
Ensembl chr17:48,613,725...48,616,728 		JBrowse link
G BOLA3 bolA family member 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,941,730...48,952,327
Ensembl chr17:48,941,387...48,989,852 		JBrowse link
G C17H2orf78 chromosome 17 C2orf78 homolog ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,231,377...49,239,686
Ensembl chr17:49,231,149...49,238,621 		JBrowse link
G C17H2orf81 chromosome 17 C2orf81 homolog ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,704,515...48,717,648 JBrowse link
G CCDC142 coiled-coil domain containing 142 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,655,347...48,662,609
Ensembl chr17:48,655,383...48,662,583 		JBrowse link
G CD207 CD207 molecule ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,186,698...69,190,289 JBrowse link
G CLEC4F C-type lectin domain family 4 member F ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,170,393...69,179,578
Ensembl chr10:69,170,437...69,179,914 		JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894 		JBrowse link
G DCTN1 dynactin subunit 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,728,096...48,759,187
Ensembl chr17:48,728,270...48,759,147 		JBrowse link
G DGUOK deoxyguanosine kinase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		JBrowse link
G DOK1 docking protein 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,588,579...48,591,523
Ensembl chr17:48,589,023...48,591,721 		JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,617,170...48,623,591
Ensembl chr17:48,617,613...48,623,591 		JBrowse link
G DUSP11 dual specificity phosphatase 11 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,245,476...49,261,774
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876 		JBrowse link
G EGR4 early growth response 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,575,964...49,580,697
Ensembl chr17:49,575,466...49,578,251 		JBrowse link
G EMX1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More...
G EXOC6B exocyst complex component 6B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,986,330...50,607,658
Ensembl chr17:49,986,390...50,604,451 		JBrowse link
G FBXO41 F-box protein 41 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,585,511...49,613,406
Ensembl chr17:49,599,488...49,609,166 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,148,938...69,170,371
Ensembl chr10:69,157,741...69,163,028 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,610,408...48,613,399
Ensembl chr17:48,610,408...48,613,399 		JBrowse link
G INO80B INO80 complex subunit B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,674,004...48,676,869 JBrowse link
G LBX2 ladybird homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,641,630...48,643,411
Ensembl chr17:48,641,674...48,643,239 		JBrowse link
G LOC100856782 T-complex protein 1 subunit eta ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr34:37,026,053...37,027,839 JBrowse link
G LOXL3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,590,996...48,610,264
Ensembl chr17:48,591,768...48,610,392 		JBrowse link
G MCEE methylmalonyl-CoA epimerase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III OMIM
ClinVar		 PMID:16199547 PMID:16697227 PMID:16752391 PMID:17823972 PMID:22522443 More... NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830 		JBrowse link
G MOB1A MOB kinase activator 1A ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,915,300...48,936,522
Ensembl chr17:48,915,346...48,933,303 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,666,220...48,670,848
Ensembl chr17:48,667,224...48,670,646 		JBrowse link
G MPHOSPH10 M-phase phosphoprotein 10 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr 3:38,057,290...38,080,489
Ensembl chr 3:38,060,743...38,080,242 		JBrowse link
G MRPL53 mitochondrial ribosomal protein L53 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,663,271...48,666,078
Ensembl chr17:48,663,598...48,664,554 		JBrowse link
G MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,882,838...48,896,816
Ensembl chr17:48,883,724...48,941,949 		JBrowse link
G NAGK N-acetylglucosamine kinase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,367,477...51,376,461 JBrowse link
G NAT8 N-acetyltransferase 8 (putative) ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,285,915...49,288,362 JBrowse link
G NOTO notochord homeobox ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More...
G PAIP2B poly(A) binding protein interacting protein 2B ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,381,891...51,388,964
Ensembl chr17:51,385,194...51,413,360 		JBrowse link
G PCGF1 polycomb group ring finger 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,633,207...48,642,435
Ensembl chr17:48,633,332...48,635,554 		JBrowse link
G PRADC1 protease associated domain containing 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,633,772...49,649,450
Ensembl chr17:49,633,769...49,637,708 		JBrowse link
G RAB11FIP5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,735,511...49,772,228
Ensembl chr17:49,735,097...49,803,741 		JBrowse link
G RTKN rhotekin ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,684,794...48,700,309
Ensembl chr17:48,685,089...48,699,966 		JBrowse link
G SFXN5 sideroflexin 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,773,446...49,896,373
Ensembl chr17:49,773,883...49,894,400 		JBrowse link
G SLC4A5 solute carrier family 4 member 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,769,963...48,882,201
Ensembl chr17:48,797,807...48,880,441 		JBrowse link
G SMYD5 SMYD family member 5 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,638,436...49,650,231
Ensembl chr17:49,639,765...49,650,182 		JBrowse link
G SPR sepiapterin reductase ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,950,192...49,957,455
Ensembl chr17:49,950,800...49,957,417 		JBrowse link
G STAMBP STAM binding protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,194,810...49,221,017
Ensembl chr17:49,195,101...49,221,013 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675 		JBrowse link
G TEX261 testis expressed 261 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,294,347...69,301,934 JBrowse link
G TLX2 T cell leukemia homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,625,008...48,627,085
Ensembl chr17:48,625,632...48,627,052 		JBrowse link
G TPRKB TP53RK binding protein ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G TTC31 tetratricopeptide repeat domain 31 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,647,765...48,655,413
Ensembl chr17:48,647,504...48,656,066 		JBrowse link
G VAX2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr10:69,252,926...69,262,225 JBrowse link
G WBP1 WW domain binding protein 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,671,039...48,673,817
Ensembl chr17:48,671,152...48,673,459 		JBrowse link
G WDR54 WD repeat domain 54 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:48,700,432...48,734,250
Ensembl chr17:48,700,431...48,704,344 		JBrowse link
G ZNF638 zinc finger protein 638 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III ClinVar PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 More... NCBI chr17:51,251,517...51,318,758
Ensembl chr17:51,251,520...51,318,590 		JBrowse link
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433 		JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499 		JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608 		JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr22:3,018,628...3,051,059
Ensembl chr22:3,018,137...3,051,269 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM
ClinVar		 PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 More... NCBI chr22:3,440,908...3,478,683
Ensembl chr22:3,440,923...3,478,683 		JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
multiple acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:1430199 PMID:1882842 PMID:9334218 PMID:9536098 PMID:12486872 More... NCBI chr30:39,848,241...39,925,809
Ensembl chr30:39,848,270...39,964,823 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta ISO ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:7912128 PMID:9350306 PMID:9536098 PMID:12706375 PMID:12815589 More... NCBI chr 1:105,612,791...105,628,125 JBrowse link
G ETFB electron transfer flavoprotein subunit beta ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:105,609,654...105,612,128
Ensembl chr 1:105,610,511...105,628,125 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency OMIM
ClinVar		 PMID:3126856 PMID:7173260 PMID:7757062 PMID:9536098 PMID:12359134 More... NCBI chr15:55,752,170...55,781,118
Ensembl chr15:55,752,200...55,792,105 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:25741868 PMID:27259049 PMID:28492532 PMID:30982706 PMID:31392824 NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471 		JBrowse link
G IGLON5 IgLON family member 5 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:105,640,708...105,649,052
Ensembl chr 1:105,642,094...105,650,847 		JBrowse link
G LIM2 lens intrinsic membrane protein 2 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:105,593,457...105,599,788
Ensembl chr 1:105,593,224...105,599,650 		JBrowse link
G LOC100686511 myeloid cell surface antigen CD33 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:105,722,187...105,731,616 JBrowse link
G MADD MAP kinase activating death domain ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type ClinVar PMID:25741868 PMID:32761064 NCBI chr18:42,290,226...42,332,237
Ensembl chr18:42,290,754...42,328,586 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Glutaric acidemia type 2 ClinVar PMID:21437237 PMID:25326637 PMID:25503501 PMID:25741868 PMID:26467025 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G NKG7 natural killer cell granule protein 7 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:105,607,558...105,608,870 JBrowse link
G SIGLECL1 SIGLEC family like 1 ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:105,683,766...105,698,305
Ensembl chr 1:105,674,317...105,674,871
Ensembl chr 1:105,674,317...105,674,871 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 2 ClinVar PMID:25326637 PMID:25741868 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636 		JBrowse link
G VSIG10L V-set and immunoglobulin domain containing 10 like ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency ClinVar PMID:16510302 PMID:23785301 PMID:28492532 NCBI chr 1:105,629,289...105,638,905
Ensembl chr 1:105,630,790...105,638,922 		JBrowse link
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BOLA3 bolA family member 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 OMIM
ClinVar		 PMID:11156534 PMID:21944046 PMID:22562699 PMID:24334290 PMID:25741868 More... NCBI chr17:48,941,730...48,952,327
Ensembl chr17:48,941,387...48,989,852 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 ClinVar NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675 		JBrowse link
N-Acetylaspartate Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAT8L N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: N-acetylaspartate deficiency OMIM
ClinVar		 PMID:19807691 NCBI chr 3:62,107,060...62,113,807
Ensembl chr 3:62,108,003...62,113,737 		JBrowse link
N-acetylglutamate synthase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGS N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Hyperammonemia due to N-acetylglutamate synthase deficiency | ClinVar Annotator: match by term: NAG synthetase deficiency OMIM
ClinVar		 PMID:12594532 PMID:16199547 PMID:23894642 PMID:25741868 PMID:28492532 NCBI chr 9:19,344,073...19,349,395
Ensembl chr 9:19,344,902...19,349,207 		JBrowse link
neonatal-onset type II citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II | ClinVar Annotator: match by term: SLC25A13-related condition OMIM
ClinVar		 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 More... NCBI chr14:21,295,651...21,481,767
Ensembl chr14:21,296,512...21,482,236 		JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162 		JBrowse link
Neu-Laxova syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350 		JBrowse link
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:80,992,992...81,178,362
Ensembl chr 1:80,992,863...81,177,674 		JBrowse link
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17436247 PMID:17576681 PMID:25152457 More... NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:81,191,125...81,426,337
Ensembl chr 1:81,192,349...81,426,322 		JBrowse link
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM
ClinVar		 PMID:25741868 PMID:35482014 NCBI chr 6:49,095,188...49,131,427
Ensembl chr 6:49,095,895...49,130,484 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chr 6:49,142,520...49,232,251
Ensembl chr 6:49,147,142...49,232,241 		JBrowse link
Non Ketotic Hyperglycinemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLYCTK glycerate kinase ISO ClinVar Annotator: match by term: Non ketotic hyperglycinemia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:37,462,651...37,495,581
Ensembl chr20:37,462,659...37,465,807 		JBrowse link
Nonsyndromic Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:7874125 PMID:8302318 PMID:10649493 PMID:12876664 PMID:18463683 More... NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:18821858 PMID:25741868 PMID:28266639 PMID:28492532 PMID:30868578 NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:1429711 PMID:1642278 PMID:1899321 PMID:1903591 PMID:1943686 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:16704458 PMID:21739261 PMID:25741868 PMID:28266639 PMID:28492532 NCBI chr11:33,317,084...33,336,029
Ensembl chr11:33,317,121...33,335,498 		JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM
ClinVar		 PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chr20:3,155,754...3,205,307
Ensembl chr20:3,021,167...3,205,279 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:10338090 PMID:14972327 PMID:16786517 PMID:22267502 PMID:23981774 More... NCBI chr31:37,230,900...37,247,170 JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chr20:3,096,859...3,157,896
Ensembl chr20:3,097,395...3,157,888 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 PMID:25533962 More... NCBI chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:25607374 PMID:25741868 PMID:28492532 NCBI chr24:47,219,977...47,248,791 JBrowse link
ocular albinism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:6,438,068...6,479,731
Ensembl chr  X:6,437,660...6,474,447 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr30:35,375,181...35,382,398 JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chr30:14,372,019...14,400,262
Ensembl chr30:14,371,778...14,400,152 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr11:33,317,084...33,336,029
Ensembl chr11:33,317,121...33,335,498 		JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
oculocutaneous albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMACR alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: RGD PMID:16185271 RGD:11354899 NCBI chr28:11,547,457...11,572,248
Ensembl chr28:11,547,741...11,571,613 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr26:20,131,658...20,157,532
Ensembl chr26:19,933,281...20,157,058 		JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532 NCBI chr30:14,399,747...14,447,113
Ensembl chr30:14,399,966...14,425,141 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:7874125 PMID:8302318 PMID:9259203 PMID:10987646 PMID:12876664 More... NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532 NCBI chr30:14,372,019...14,400,262
Ensembl chr30:14,371,778...14,400,152 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
G TYR tyrosinase treatment ISO ClinVar Annotator: match by term: Oculocutaneous albinism RGD
ClinVar		 PMID:1429711 PMID:1642278 PMID:1832718 PMID:1899321 PMID:1903591 More... RGD:8694345 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar NCBI chr11:33,317,084...33,336,029
Ensembl chr11:33,317,121...33,335,498 		JBrowse link
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYR tyrosinase ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | ClinVar Annotator: match by term: TYR-related condition ClinVar PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
oculocutaneous albinism type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYR tyrosinase treatment ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism RGD
ClinVar
OMIM		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... RGD:8694335 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
oculocutaneous albinism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYR tyrosinase ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism OMIM
ClinVar		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1B ClinVar PMID:25741868 NCBI chr  X:58,641,182...58,812,671
Ensembl chr  X:58,645,650...58,812,671 		JBrowse link
oculocutaneous albinism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5ME ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr  X:108,285,208...108,285,423 JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism OMIM
ClinVar		 PMID:7581459 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 More... NCBI chr 5:63,694,296...63,695,249 JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO
IAGP		 ClinVar Annotator: match by term: OCA2-related condition | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
Coat colour, oculocutaneous albinism, OCA2-related		 OMIM
ClinVar
OMIA		 PMID:1773534 PMID:7762554 PMID:7874125 PMID:7920637 PMID:8302318 More... NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572 		JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF ClinVar PMID:8651291 PMID:9345097 PMID:18680187 PMID:28492532 NCBI chr11:33,317,084...33,336,029
Ensembl chr11:33,317,121...33,335,498 		JBrowse link
oculocutaneous albinism type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 3 | ClinVar Annotator: match by term: TYRP1-related condition OMIM
ClinVar		 PMID:8651291 PMID:9345097 PMID:9536098 PMID:15996218 PMID:16199547 More... NCBI chr11:33,317,084...33,336,029
Ensembl chr11:33,317,121...33,335,498 		JBrowse link
oculocutaneous albinism type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition OMIM
ClinVar		 PMID:11574907 PMID:14070830 PMID:14722913 PMID:14961451 PMID:15565285 More... NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
oculocutaneous albinism type VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI ClinVar PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 More... NCBI chr30:14,399,747...14,447,113
Ensembl chr30:14,399,966...14,425,141 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI OMIM
ClinVar		 PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 More... NCBI chr30:14,372,019...14,400,262
Ensembl chr30:14,371,778...14,400,152 		JBrowse link
oculocutaneous albinism type VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRMDA leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 7 OMIM
ClinVar		 PMID:23395477 PMID:25741868 PMID:26818737 PMID:28492532 PMID:29345414 More... NCBI chr 4:25,610,656...26,636,351
Ensembl chr 4:25,610,174...26,633,127 		JBrowse link
G WDR45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:42,221,261...42,237,535
Ensembl chr  X:42,218,046...42,226,422 		JBrowse link
Oculocutaneous Albinism Type VIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCT dopachrome tautomerase ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII OMIM
ClinVar		 PMID:25741868 PMID:33100333 PMID:33959807 NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346 		JBrowse link
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,050,588...35,073,633
Ensembl chr  X:35,050,606...35,073,067 		JBrowse link
G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:34,621,314...34,735,502
Ensembl chr  X:34,621,886...34,645,766 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:30,880,335...31,390,675 JBrowse link
G CXHXorf38 chromosome X CXorf38 homolog ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,101,755...35,121,453
Ensembl chr  X:35,106,819...35,121,385 		JBrowse link
G CYBB cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:32,533,365...32,568,149
Ensembl chr  X:32,533,320...32,568,217 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		JBrowse link
G DYNLT3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:32,603,881...32,611,213
Ensembl chr  X:32,603,945...32,611,542 		JBrowse link
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:28492532 NCBI chr  X:38,133,964...38,297,285
Ensembl chr  X:38,134,891...38,329,080 		JBrowse link
G GK glycerol kinase ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:25,748,060...25,834,462 JBrowse link
G H2AP H2A.P histone ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:32,744,935...32,745,485 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G LANCL3 LanC like family member 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:32,349,007...32,452,130
Ensembl chr  X:32,349,269...32,443,254 		JBrowse link
G LOC100856762 melanoma-associated antigen B16-like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:30,061,692...30,064,909 JBrowse link
G LOC491820 family with sequence similarity 47, member E pseudogene ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:31,903,084...31,904,488 JBrowse link
G MED14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,125,270...35,191,260
Ensembl chr  X:35,125,774...35,191,122 		JBrowse link
G MID1IP1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:33,548,210...33,550,550
Ensembl chr  X:33,549,021...33,549,572 		JBrowse link
G MPC1L mitochondrial pyruvate carrier 1 like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,096,805...35,098,017 JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:25,396,527...25,401,587
Ensembl chr  X:25,396,527...25,401,715 		JBrowse link
G OTC ornithine transcarbamylase ISO ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency OMIM
ClinVar		 PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595 		JBrowse link
G PRRG1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:31,856,586...32,141,855
Ensembl chr  X:31,870,092...32,138,147 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841 		JBrowse link
G SRPX sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:32,905,380...33,017,642
Ensembl chr  X:32,745,020...33,330,841 		JBrowse link
G SYTL5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:32,652,389...32,886,793
Ensembl chr  X:32,651,968...32,879,525 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:25,950,071...26,039,180
Ensembl chr  X:25,954,145...26,008,169 		JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:25,664,361...25,679,044 JBrowse link
G TMEM47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:29,675,386...29,705,941
Ensembl chr  X:29,675,387...29,705,941 		JBrowse link
G TSPAN7 tetraspanin 7 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:33,336,821...33,465,097
Ensembl chr  X:33,336,846...33,464,163 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,522,873...35,676,086 JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16786505 PMID:18487280 PMID:19138872 More... NCBI chr  X:32,453,404...32,498,145
Ensembl chr  X:32,453,570...32,495,110 		JBrowse link
ornithine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A15 solute carrier family 25 member 15 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency OMIM
ClinVar		 PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 More... NCBI chr25:470,647...494,800
Ensembl chr25:471,777...493,054 		JBrowse link
oxoglutarate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLST dihydrolipoamide S-succinyltransferase ISO ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency ClinVar NCBI chr 8:48,003,730...48,025,001
Ensembl chr 8:48,002,211...48,024,999 		JBrowse link
G OGDH oxoglutarate dehydrogenase ISO ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32383294 More...
pentosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCXR dicarbonyl and L-xylulose reductase ISO ClinVar Annotator: match by term: Essential pentosuria OMIM
ClinVar		 PMID:22042873 NCBI chr 9:289,864...291,518
Ensembl chr 9:289,889...291,480 		JBrowse link
phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCL1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:28492532 NCBI chr15:41,694,021...41,696,933
Ensembl chr15:41,694,269...41,695,391 		JBrowse link
G CAST calpastatin ISO mRNA, protein:decreased expression:brain RGD PMID:15863237 RGD:5509818 NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959 		JBrowse link
G CAT catalase ISO protein:decreased activity:brain: RGD PMID:23232760 RGD:9068874 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO RGD PMID:24488205 RGD:10449120 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric ClinVar PMID:15389992 PMID:19491146 PMID:24993959 PMID:25125585 PMID:25398234 More... NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:forebrain (mouse) RGD PMID:16153867 RGD:13210766 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		JBrowse link
G HNF1A HNF1 homeobox A ISO OMIM:261600 MouseDO NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790 		JBrowse link
G NEFH neurofilament heavy chain ISO protein:decreased expression:brain RGD PMID:7507064 RGD:9693700 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria		 OMIM
ClinVar		 PMID:1146119 PMID:1301187 PMID:1301193 PMID:1301200 PMID:1301201 More... NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia ClinVar NCBI chr 4:21,719,863...21,723,493
Ensembl chr 4:21,719,863...21,721,574 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric ClinVar PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 More... NCBI chr 5:20,883,128...20,912,318
Ensembl chr 5:20,896,236...20,912,297 		JBrowse link
G QDPR quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2 ClinVar PMID:7627180 PMID:8326489 PMID:8518287 PMID:9744478 PMID:11153907 More... NCBI chr 3:62,970,850...62,987,512
Ensembl chr 3:62,970,121...63,028,395 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245 		JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,505,463...56,529,441
Ensembl chr17:56,505,506...56,528,954 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		JBrowse link
G LOC100682600 disintegrin and metalloproteinase domain-containing protein 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr17:56,768,324...56,772,594 JBrowse link
G LOC480786 regenerating islet-derived protein 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr17:56,728,398...56,772,734 JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr17:56,806,912...56,833,765 JBrowse link
G TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,079,739...56,190,417
Ensembl chr17:56,081,411...56,204,192 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,229,175...56,322,688
Ensembl chr17:56,229,769...56,322,638 		JBrowse link
G ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr17:56,573,771...56,604,278
Ensembl chr17:56,576,916...56,578,898
Ensembl chr17:56,576,916...56,578,898 		JBrowse link
piebaldism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18397875 RGD:12738207 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive OMIM
ClinVar		 PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 More... NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Piebaldism		 RGD
ClinVar		 PMID:12444107 PMID:12955764 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1600041 NCBI chr29:1,154,132...1,156,653
Ensembl chr29:1,154,036...1,156,653 		JBrowse link
prolidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEPD peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 1:118,662,560...118,773,193
Ensembl chr 1:118,662,626...118,773,153 		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 chr22:52,296,126...52,335,744 JBrowse link
G CCDC168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:52,228,429...52,257,920 JBrowse link
G CLYBL citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:49,608,997...49,893,766
Ensembl chr22:49,608,358...49,871,572 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:52,339,011...52,372,618 JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		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 chr22:50,429,066...50,471,624
Ensembl chr22:50,429,190...50,470,657 		JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:51,157,789...51,377,441
Ensembl chr22:51,158,169...51,380,430 		JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:52,181,222...52,194,859
Ensembl chr22:52,182,115...52,190,163 		JBrowse link
G NALCN sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:50,821,983...51,142,000
Ensembl chr22:50,823,478...51,141,644 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Propionic acidemia OMIM
ClinVar		 PMID:2037281 PMID:6790853 PMID:7915138 PMID:8083196 PMID:9385377 More... NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta ISO ClinVar Annotator: match by term: Propionic acidemia OMIM
ClinVar		 PMID:2154743 PMID:8023851 PMID:8225321 PMID:8295402 PMID:8411997 More... NCBI chr23:32,689,732...32,782,204
Ensembl chr23:32,687,839...32,836,366 		JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:52,274,616...52,295,981
Ensembl chr22:52,146,466...52,372,304 		JBrowse link
G SLC10A2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:52,523,679...52,541,976
Ensembl chr22:52,523,568...52,541,976 		JBrowse link
G TEX30 testis expressed 30 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:52,260,841...52,267,711
Ensembl chr22:52,260,841...52,267,664 		JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:49,515,350...49,578,519
Ensembl chr22:49,515,382...49,577,905 		JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:50,483,799...50,554,421
Ensembl chr22:50,485,190...50,555,587 		JBrowse link
G TPP2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:52,105,821...52,176,213
Ensembl chr22:52,105,886...52,175,426 		JBrowse link
G UBAC2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:49,246,210...49,425,611
Ensembl chr22:49,245,930...49,425,088 		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 chr 1:122,035,193...122,038,032
Ensembl chr 1:122,035,197...122,037,759 		JBrowse link
G ZIC2 Zic family member 2 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:49,948,743...49,952,007
Ensembl chr22:49,948,778...49,950,055 		JBrowse link
G ZIC5 Zic family member 5 ISO ClinVar Annotator: match by term: Propionic acidemia ClinVar PMID:28492532 NCBI chr22:49,929,198...49,938,002
Ensembl chr22:49,931,460...49,937,853 		JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSAT1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency | ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162 		JBrowse link
PSPH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCT6A chaperonin containing TCP1 subunit 6A ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 6:546,278...556,996
Ensembl chr 6:546,307...557,001 		JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 6:581,276...585,367
Ensembl chr 6:581,280...585,301 		JBrowse link
G PHKG1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 6:565,560...577,754
Ensembl chr 6:565,711...577,739 		JBrowse link
G PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency OMIM
ClinVar		 PMID:9222972 PMID:9536098 PMID:14673469 PMID:16199547 PMID:17576681 More... NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089 		JBrowse link
G SUMF2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 6:557,774...568,564
Ensembl chr 6:557,855...567,801 		JBrowse link
Saccharopinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Saccharopinuria ClinVar PMID:25741868 PMID:28492532 NCBI chr14:59,950,123...59,993,457
Ensembl chr14:59,951,216...60,000,212 		JBrowse link
sarcosinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of OMIM
ClinVar		 PMID:22825317 PMID:25741868 PMID:28492532 NCBI chr 9:50,030,397...50,093,556
Ensembl chr 9:50,030,707...50,091,553 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:23010199 PMID:25741868 NCBI chr30:14,399,747...14,447,113
Ensembl chr30:14,399,966...14,425,141 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:16357253 PMID:17999355 PMID:23010199 PMID:25741868 PMID:29025994 NCBI chr30:14,372,019...14,400,262
Ensembl chr30:14,371,778...14,400,152 		JBrowse link
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency OMIM
ClinVar		 PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 More... NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875 		JBrowse link
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776 		JBrowse link
G GPLD1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 More... NCBI chr35:22,495,001...22,556,264
Ensembl chr35:22,495,073...22,554,105 		JBrowse link
G MRS2 magnesium transporter MRS2 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:28492532 NCBI chr35:22,460,435...22,496,064
Ensembl chr35:22,459,436...22,492,543 		JBrowse link
systemic primary carnitine deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL6 acyl-CoA synthetase long chain family member 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:20,226,877...20,284,919
Ensembl chr11:20,227,268...20,285,631 		JBrowse link
G CDC42SE2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,641,815...19,757,867
Ensembl chr11:19,641,901...19,756,814 		JBrowse link
G CSF2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G FNIP1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,979,294...20,134,341
Ensembl chr11:19,979,163...20,134,229 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,551,057...19,555,390 JBrowse link
G IL3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668 		JBrowse link
G LYRM7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,560,143...19,585,350
Ensembl chr11:19,560,250...19,584,881 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr11:20,514,982...20,548,261
Ensembl chr11:20,514,978...20,549,541 		JBrowse link
G PDLIM4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr11:20,570,839...20,587,185
Ensembl chr11:20,570,833...20,585,594 		JBrowse link
G RAPGEF6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr11:19,775,874...19,973,784 JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr 5:31,673,540...31,676,705
Ensembl chr 5:31,674,284...31,676,441 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr11:20,599,281...20,643,893 JBrowse link
G SLC22A5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Carnitine Deficiency, Systemic | ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect | ClinVar Annotator: match by term: Systemic primary carnitine deficiency disease OMIM
ClinVar		 PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 More... NCBI chr11:20,659,023...20,686,359
Ensembl chr11:20,598,888...20,683,087 		JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: Tietz syndrome OMIM
ClinVar		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
tyrosinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAH fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Fumarylacetoacetase deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosinemia ClinVar PMID:7757089 PMID:7929843 PMID:7942842 PMID:7977370 PMID:8028615 More... NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Hypertyrosinemia ClinVar NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
G TAT tyrosine aminotransferase susceptibility ISO DNA:point mutations
ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosine aminotransferase deficiency		 RGD
ClinVar		 PMID:1357662 PMID:25741868 PMID:28492532 RGD:1600125 NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
tyrosinemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD17C abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:56,881,405...56,928,305 JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:57,005,106...57,139,585
Ensembl chr 3:57,008,570...57,159,713 		JBrowse link
G CEMIP cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:56,726,605...56,786,176
Ensembl chr 3:56,726,493...56,876,026 		JBrowse link
G FAH fumarylacetoacetate hydrolase treatment ISO ClinVar Annotator: match by term: Tyrosinemia type I OMIM
ClinVar
RGD		 PMID:1401056 PMID:7550234 PMID:7757089 PMID:7929843 PMID:7942842 More... RGD:14401588 NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:56,698,417...56,709,632
Ensembl chr 3:56,705,479...56,709,536 		JBrowse link
G ZFAND6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 3:57,341,757...57,406,205
Ensembl chr 3:57,342,448...57,406,182 		JBrowse link
tyrosinemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAT tyrosine aminotransferase ISO ClinVar Annotator: match by term: Tyrosinemia type II OMIM
ClinVar		 PMID:1357662 PMID:9536098 PMID:9544843 PMID:16199547 PMID:16574453 More... NCBI chr 5:77,365,589...77,378,474
Ensembl chr 5:77,366,138...77,378,419 		JBrowse link
tyrosinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: 4-Hydroxyphenylpyruvate dioxygenase deficiency | ClinVar Annotator: match by term: Tyrosinemia type III OMIM
ClinVar		 PMID:9343288 PMID:10942115 PMID:17560158 PMID:19630565 PMID:23036342 More... NCBI chr26:7,430,891...7,440,643
Ensembl chr26:7,430,933...7,440,611 		JBrowse link
urocanase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UROC1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Urocanate hydratase deficiency OMIM
ClinVar		 PMID:18414213 PMID:19304569 PMID:25741868 PMID:25741915 PMID:28492532 NCBI chr20:676,624...717,109
Ensembl chr20:678,073...717,141 		JBrowse link
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KYNU kynureninase ISO ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2 OMIM
ClinVar		 PMID:17334708 PMID:25741868 PMID:28492532 PMID:28792876 PMID:31923704 More... NCBI chr19:45,022,450...45,150,977
Ensembl chr19:45,022,072...45,149,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        inherited metabolic disorder 5525
          amino acid metabolic disorder 1508
            2-Methylacetoacetyl CoA Thiolase Deficiency 0
            2-Methylbutyryl-CoA Dehydrogenase Deficiency 2
            2-aminoadipic 2-oxoadipic aciduria 2
            2-hydroxyglutaric aciduria + 94
            3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 72
            3-Hydroxyisobutyric Aciduria 0
            5-Oxoprolinase Deficiency 1
            Adams Nance Syndrome 0
            Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
            Albinism + 95
            Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
            Aminoacylase 1 Deficiency 3
            Arakawa Syndrome 2 0
            Asparagine Synthetase Deficiency 1
            Beta-Aminoisobutyric Acid, Urinary Excretion of 1
            Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 3
            Blue Diaper Syndrome 0
            Brunner syndrome 3
            Camptodactyly Taurinuria 0
            Cysteine Peptiduria 0
            Diaminopentanuria 0
            Dibasic Amino Aciduria I 0
            Dimethylglycine Dehydrogenase Deficiency 1
            GABA aminotransferase deficiency 7
            Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
            Glucoglycinuria 0
            Glutamate Monosodium Sensitivity 0
            Glutamine Deficiency, Congenital 1
            Glutaric Aciduria + 65
            Glycinuria with or without Oxalate Urolithiasis 4
            HMG-CoA synthase 2 deficiency 2
            Hartnup disease 1
            Hydroxyprolinemia 0
            Hyperleucine-Isoleucinemia 0
            Hypertaurinuric Cardiomyopathy 1
            Hypertryptophanemia + 1
            IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
            Ichthyosis, Split Hairs, and Amino Aciduria 0
            Indolylacroyl Glycinuria with Mental Retardation 0
            Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
            Isobutyryl-CoA Dehydrogenase Deficiency 6
            Ketoadipicaciduria 0
            Lysine Malabsorption Syndrome 0
            Maleylacetoacetate Isomerase Deficiency 1
            Mercaptolactate-Cysteine Disulfiduria 0
            Methionine Malabsorption Syndrome 0
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
            Methylmalonyl-CoA Epimerase Deficiency + 56
            Myopathy due to Malate-Aspartate Shuttle Defect 0
            N-Acetylaspartate Deficiency 1
            Richards-Rundle Syndrome 0
            Tiglic Acidemia 0
            Tryptophanuria with Dwarfism 0
            Tyrosinosis 0
            Valinemia + 1
            Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
            adenylosuccinase lyase deficiency 122
            alkaptonuria + 104
            argininosuccinic aciduria 8
            aromatic L-amino acid decarboxylase deficiency 1
            beta-ketothiolase deficiency 7
            branched-chain keto acid dehydrogenase kinase deficiency 37
            carboxypeptidase N deficiency 1
            cerebral creatine deficiency syndrome + 128
            cystathioninuria 1
            cystinuria + 7
            dicarboxylic aminoaciduria 1
            diphthamide deficiency syndrome + 4
            fumarase deficiency 8
            gamma-amino butyric acid metabolism disorder + 12
            gamma-glutamyl transpeptidase deficiency 1
            glutamate-cysteine ligase deficiency 1
            glutathione synthetase deficiency + 1
            glycine encephalopathy + 37
            histidine metabolism disease + 2
            homocystinuria + 89
            homocystinuria-megaloblastic anemia cblG type 1
            hydroxykynureninuria 1
            hyperhomocysteinemia + 123
            hyperlysinemia + 1
            hypermethioninemia + 4
            hyperprolinemia + 46
            isolated sulfite oxidase deficiency 1
            isovaleric acidemia 1
            leucine-sensitive hypoglycemia of infancy 2
            lysinuric protein intolerance 74
            maple syrup urine disease + 101
            methylmalonic acidemia + 51
            mitochondrial DNA depletion syndrome 5 7
            multiple acyl-CoA dehydrogenase deficiency + 14
            multiple carboxylase deficiency + 11
            nuclear type mitochondrial complex I deficiency 20 8
            organic acidemia + 381
            oxoglutarate dehydrogenase deficiency 2
            pentosuria 1
            phenylketonuria + 42
            prolidase deficiency 1
            propionic acidemia + 21
            sarcosinemia 1
            serine deficiency + 20
            succinic semialdehyde dehydrogenase deficiency 4
            systemic primary carnitine deficiency disease 13
            tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia + 29
            tyrosinemia + 8
            urea cycle disorder + 82
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          inherited metabolic disorder 5525
            amino acid metabolic disorder 1508
              2-Methylacetoacetyl CoA Thiolase Deficiency 0
              2-Methylbutyryl-CoA Dehydrogenase Deficiency 2
              2-aminoadipic 2-oxoadipic aciduria 2
              2-hydroxyglutaric aciduria + 94
              3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 72
              3-Hydroxyisobutyric Aciduria 0
              5-Oxoprolinase Deficiency 1
              Adams Nance Syndrome 0
              Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
              Albinism + 95
              Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
              Aminoacylase 1 Deficiency 3
              Arakawa Syndrome 2 0
              Asparagine Synthetase Deficiency 1
              Beta-Aminoisobutyric Acid, Urinary Excretion of 1
              Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 3
              Blue Diaper Syndrome 0
              Brunner syndrome 3
              Camptodactyly Taurinuria 0
              Cysteine Peptiduria 0
              Diaminopentanuria 0
              Dibasic Amino Aciduria I 0
              Dimethylglycine Dehydrogenase Deficiency 1
              GABA aminotransferase deficiency 7
              Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
              Glucoglycinuria 0
              Glutamate Monosodium Sensitivity 0
              Glutamine Deficiency, Congenital 1
              Glutaric Aciduria + 65
              Glycinuria with or without Oxalate Urolithiasis 4
              HMG-CoA synthase 2 deficiency 2
              Hartnup disease 1
              Hydroxyprolinemia 0
              Hyperleucine-Isoleucinemia 0
              Hypertaurinuric Cardiomyopathy 1
              Hypertryptophanemia + 1
              IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
              Ichthyosis, Split Hairs, and Amino Aciduria 0
              Indolylacroyl Glycinuria with Mental Retardation 0
              Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
              Isobutyryl-CoA Dehydrogenase Deficiency 6
              Ketoadipicaciduria 0
              Lysine Malabsorption Syndrome 0
              Maleylacetoacetate Isomerase Deficiency 1
              Mercaptolactate-Cysteine Disulfiduria 0
              Methionine Malabsorption Syndrome 0
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
              Methylmalonyl-CoA Epimerase Deficiency + 56
              Myopathy due to Malate-Aspartate Shuttle Defect 0
              N-Acetylaspartate Deficiency 1
              Richards-Rundle Syndrome 0
              Tiglic Acidemia 0
              Tryptophanuria with Dwarfism 0
              Tyrosinosis 0
              Valinemia + 1
              Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 1
              adenylosuccinase lyase deficiency 122
              alkaptonuria + 104
              argininosuccinic aciduria 8
              aromatic L-amino acid decarboxylase deficiency 1
              beta-ketothiolase deficiency 7
              branched-chain keto acid dehydrogenase kinase deficiency 37
              carboxypeptidase N deficiency 1
              cerebral creatine deficiency syndrome + 128
              cystathioninuria 1
              cystinuria + 7
              dicarboxylic aminoaciduria 1
              diphthamide deficiency syndrome + 4
              fumarase deficiency 8
              gamma-amino butyric acid metabolism disorder + 12
              gamma-glutamyl transpeptidase deficiency 1
              glutamate-cysteine ligase deficiency 1
              glutathione synthetase deficiency + 1
              glycine encephalopathy + 37
              histidine metabolism disease + 2
              homocystinuria + 89
              homocystinuria-megaloblastic anemia cblG type 1
              hydroxykynureninuria 1
              hyperhomocysteinemia + 123
              hyperlysinemia + 1
              hypermethioninemia + 4
              hyperprolinemia + 46
              isolated sulfite oxidase deficiency 1
              isovaleric acidemia 1
              leucine-sensitive hypoglycemia of infancy 2
              lysinuric protein intolerance 74
              maple syrup urine disease + 101
              methylmalonic acidemia + 51
              mitochondrial DNA depletion syndrome 5 7
              multiple acyl-CoA dehydrogenase deficiency + 14
              multiple carboxylase deficiency + 11
              nuclear type mitochondrial complex I deficiency 20 8
              organic acidemia + 381
              oxoglutarate dehydrogenase deficiency 2
              pentosuria 1
              phenylketonuria + 42
              prolidase deficiency 1
              propionic acidemia + 21
              sarcosinemia 1
              serine deficiency + 20
              succinic semialdehyde dehydrogenase deficiency 4
              systemic primary carnitine deficiency disease 13
              tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia + 29
              tyrosinemia + 8
              urea cycle disorder + 82
paths to the root