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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
For additional species annotation, visit the Alliance of Genome Resources.


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 chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10947204 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656 		JBrowse link
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO Argininosuccinic Aciduria; DNA:mutations:multiple (human) RGD PMID:2263616 RGD:734610 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Cth cystathionine gamma-lyase ISO cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E RGD PMID:12574942 RGD:1600761 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609246 NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15651030 PMID:8651275 RGD:1601275 NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:10515893 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gcsh glycine cleavage system protein H ISO protein:decreased activity:liver: RGD PMID:7070876 RGD:12904659 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency RGD PMID:8440722 RGD:1599500 NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO isovaleric acidemia, OMIM:243500 RGD PMID:2063866 RGD:1600039 NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575 		JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:7560086 PMID:8770875 NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274 		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 chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT RGD PMID:9385377 RGD:1600306 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		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 chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M RGD PMID:11055895 RGD:1600412 NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Prodh1 proline dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17412540 PMID:12217952 RGD:1599206 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Psph phosphoserine phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14673469 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Secisbp2 SECIS binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16228000 NCBI chr17:13,538,513...13,569,573
Ensembl chr17:13,538,513...13,569,523 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10369256 PMID:10805333 RGD:1599239, RGD:1599240 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11544277 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9804340 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		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-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria OMIM
ClinVar		 PMID:8069629 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23141293 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: 2-KETOADIPIC ACIDURIA ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		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 chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)
DNA:mutations:exons:c.169G>A,c.542G>T(human)		 CTD
RGD		 PMID:15385440 PMID:15548604 PMID:21937992 PMID:24894778 PMID:25763823 More... RGD:13506818, RGD:13506815, RGD:13506814 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO DNA:mutations:exons:
ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 More... RGD:13506826 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		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 chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379 		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 chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834 		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 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 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase ClinVar NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase OMIM
ClinVar		 PMID:946337 PMID:7479590 PMID:8617516 PMID:8798725 PMID:9163320 More... NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: HL DEFICIENCY ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:10729390 More... NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		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 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO 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 chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		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 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency OMIM
ClinVar		 PMID:1293382 PMID:7128647 PMID:8598650 PMID:9536098 PMID:9544913 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		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:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 More... NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222 		JBrowse link
G Mccc2 methylcrotonyl-CoA carboxylase subunit 2 ISO ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency ClinVar PMID:11181649 PMID:16010683 PMID:16835865 PMID:17908719 PMID:20818363 More... NCBI chr 2:31,304,927...31,375,978
Ensembl chr 2:31,304,932...31,375,972 		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 chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264 		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 1 OMIM
ClinVar		 PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 More... NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896 		JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 OMIM
ClinVar		 PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:78,881,392...78,899,549
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 		JBrowse link
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 OMIM
ClinVar		 PMID:9536098 PMID:16055927 PMID:17576681 PMID:22797137 PMID:22981120 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 ClinVar PMID:28492532 NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590 		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 OMIM
ClinVar		 PMID:25741868 PMID:27208207 PMID:27696117 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 ClinVar PMID:27208207 NCBI chr 4:115,540,640...115,556,958
Ensembl chr 4:115,540,685...115,557,466 		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 OMIM
ClinVar		 PMID:25741868 PMID:27573165 PMID:28492532 PMID:30190335 PMID:31058414 More... NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793 		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 caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		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 Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 More... NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727 		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 OMIM
ClinVar		 PMID:16199547 PMID:21651516 PMID:23430506 PMID:25741868 PMID:27477828 More... NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
adenylosuccinase lyase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1302001 PMID:6150139 PMID:7334371 PMID:8598641 PMID:9197470 More... NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760 		JBrowse link
G Atf4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446 		JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688 		JBrowse link
G Enthd1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,994,775...112,109,246
Ensembl chr 7:111,995,395...112,109,246 		JBrowse link
G Fam83f family with sequence similarity 83, member F ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,211,164...112,240,454
Ensembl chr 7:112,211,164...112,240,452 		JBrowse link
G Grap2 GRB2-related adaptor protein 2 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,117,142...112,190,880
Ensembl chr 7:112,117,142...112,190,877 		JBrowse link
G LOC120093947 small nucleolar RNA SNORD43 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,627,136...111,627,199
Ensembl chr 7:111,627,136...111,627,199 		JBrowse link
G LOC120094014 small nucleolar RNA U83B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,622,885...111,622,978
Ensembl chr 7:111,622,885...111,622,978 		JBrowse link
G Mchr1 melanin-concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,761,554...112,764,746
Ensembl chr 7:112,761,554...112,764,032 		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 chr 7:111,708,353...111,761,825
Ensembl chr 7:111,675,730...111,762,026 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220 		JBrowse link
G Mrtfa myocardin related transcription factor A ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,544,312...112,714,431
Ensembl chr 7:112,544,312...112,714,418 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Rpl3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,622,257...111,627,639
Ensembl chr 7:111,621,610...111,636,468 		JBrowse link
G Rps19bp1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,812,129...111,812,751
Ensembl chr 7:111,809,355...111,812,757 		JBrowse link
G Sgsm3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,514,453...112,544,109
Ensembl chr 7:112,514,630...112,544,108 		JBrowse link
G Syngr1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:111,635,911...111,659,341
Ensembl chr 7:111,635,918...111,659,341 		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 chr 7:111,675,829...111,707,058
Ensembl chr 7:111,686,371...111,707,058 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790 		JBrowse link
adult-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 susceptibility ISO DNA:mutations: :multiple
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
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,decreased expression:exons,liver:multiple		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 More... RGD:1599241, RGD:1599242 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
AGAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		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 chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: AGAT deficiency | ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 OMIM
ClinVar		 PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:17576681 More... NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G MGC105649 hypothetical LOC302884 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,719,952...109,723,507
Ensembl chr 3:109,719,897...109,724,006
Ensembl chr 3:109,719,897...109,724,006 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253 		JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328 		JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306 		JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Spata5l1 spermatogenesis associated 5-like 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		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 chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037 		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 chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:		 OMIM
ClinVar
RGD		 PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		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 chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:28041643 NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715 		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 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Tyr tyrosinase treatment ISO
IMP		 DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism		 ClinVar
RGD		 PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 More... RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
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 chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		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 chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620 		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 chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560 		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 chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547 		JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617 		JBrowse link
G Acp3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236 		JBrowse link
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		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 chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465 		JBrowse link
G Aste1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430 		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 chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006 		JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399 		JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956 		JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cdv3 CDV3 homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192 		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 chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580 		JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546 		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 chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216 		JBrowse link
G Chst13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,824,712...122,837,935
Ensembl chr 4:122,824,022...122,838,019 		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 chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637 		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 chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113 		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 chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472 		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 chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616 		JBrowse link
G Cpne4 copine 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068 		JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488 		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 chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552 		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 chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317 		JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,814,926...64,824,538
Ensembl chr11:64,814,926...64,824,538 		JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610 		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 chr 4:120,719,616...120,915,801
Ensembl chr 4:120,707,133...120,915,779 		JBrowse link
G Efcab12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560 		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 chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516 		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 chr11:64,680,937...64,711,239
Ensembl chr11:64,680,323...64,711,239 		JBrowse link
G Fbxo40 F-box protein 40 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697 		JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761 		JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770 		JBrowse link
G Gp9 glycoprotein IX (platelet) ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110 		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 chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942 		JBrowse link
G H1f10 H1.10 linker histone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,440,515...120,444,705
Ensembl chr 4:120,440,870...120,441,448 		JBrowse link
G H1f8 H1.8 linker histone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254 		JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889 		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 chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014 		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 chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051 		JBrowse link
G Hgd homogentisate 1, 2-dioxygenase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar
OMIM
RGD		 PMID:1001939 PMID:1360590 PMID:2114497 PMID:8782815 PMID:9154114 More... RGD:1599472 NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323 		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 chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616 		JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458 		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 chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Isy1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188 		JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472 		JBrowse link
G Kalrn kalirin, RhoGEF kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610 		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 chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443 		JBrowse link
G Klf15 Kruppel-like factor 15 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374 		JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623 		JBrowse link
G LOC685964 hypothetical protein LOC685964 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175 		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 chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982 		JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847 		JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,192,187...121,294,187
Ensembl chr 4:121,192,195...121,294,179 		JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000 		JBrowse link
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544 		JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Nek11 NIMA-related kinase 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nudt16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998 		JBrowse link
G Osbpl11 oxysterol binding protein-like 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444 		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 chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916 		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 chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455 		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 chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084 		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 chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584 		JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:149,002,784...149,043,097
Ensembl chr 4:149,002,784...149,043,244 		JBrowse link
G Podxl2 podocalyxin-like 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112 		JBrowse link
G Polq DNA polymerase theta ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878 		JBrowse link
G Rab43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,249,878...120,269,174
Ensembl chr 4:120,249,879...120,269,174 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889 		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 chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148 		JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069 		JBrowse link
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384 		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 chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:65,102,031...65,225,456
Ensembl chr11:65,102,031...65,225,311 		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 chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834 		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 chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225 		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 chr 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766 		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 chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926 		JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174 		JBrowse link
G Stxbp5l syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014 		JBrowse link
G Tf transferrin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		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 chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620 		JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094 		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 chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674 		JBrowse link
G Tpra1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269 		JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637 		JBrowse link
G Txnrd3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491 		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 chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894 		JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Uroc1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591 		JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807 		JBrowse link
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772 		JBrowse link
G Zxdc ZXD family zinc finger C ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496 		JBrowse link
Aminoacylase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 8:107,072,354...107,077,756
Ensembl chr 8:107,072,358...107,077,682 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme ClinVar NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054 		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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria
protein:decreased expression:liver,erythrocyte,fibroblast, amniocyte
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:203629 PMID:705937 PMID:1705937 PMID:2263616 PMID:3106853 More... RGD:1302509, RGD:13628399 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Crcp CGRP receptor component ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,623,968...26,659,756
Ensembl chr12:26,623,976...26,768,225 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:2263616 PMID:19224584 PMID:24166829 PMID:28492532 NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138 		JBrowse link
G Rabgef1 RAB guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,459,190...26,503,790
Ensembl chr12:26,460,175...26,503,744 		JBrowse link
G Sbds Sbds, ribosome maturation factor ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649 		JBrowse link
G Tmem248 transmembrane protein 248 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,430,775...26,457,105
Ensembl chr12:26,432,953...26,457,105 		JBrowse link
G Tpst1 tyrosylprotein sulfotransferase 1 ISO ClinVar Annotator: match by term: Argininosuccinate lyase deficiency ClinVar PMID:28492532 NCBI chr12:26,544,536...26,605,706
Ensembl chr12:26,544,536...26,605,704 		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:15079002 PMID:16199547 More... NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		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: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:24139043 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27422383 More... NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 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 chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
Barth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:1719174 PMID:9345098 PMID:9536098 PMID:11238270 PMID:15793838 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISS OMIM:302060 MouseDO NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743 		JBrowse link
G Mest mesoderm specific transcript ISS OMIM:302060 MouseDO NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		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 ClinVar
OMIM		 PMID:21572414 NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926 		JBrowse link
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO 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:16199547 PMID:17160907 PMID:24033266 PMID:24299452 More... NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		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 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		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 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
BH4-deficient hyperphenylalaninemia A 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: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		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:7981714 PMID:8088845 PMID:8268925 PMID:8533759 PMID:8830172 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A OMIM
ClinVar		 PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 More... NCBI chr 8:50,870,838...50,877,878
Ensembl chr 8:50,870,841...50,877,869 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854 		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 8:50,908,161...50,913,205
Ensembl chr 8:50,909,052...50,913,217 		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:1530300 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		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:7550325 PMID:9099842 PMID:9158148 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		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 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907 		JBrowse link
G Bckdk branched chain ketoacid dehydrogenase kinase ISO
IAGP		 ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
DNA:missense mutation:cds:G369E (rat)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:22956686 PMID:25741868 PMID:26467025 More... RGD:39131293 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633 		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 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163 		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 1:182,197,171...182,216,936
Ensembl chr 1:182,192,947...182,202,338 		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 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274 		JBrowse link
G Ctf1 cardiotrophin 1 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Fbrs fibrosin ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828 		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 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083 		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 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		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 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442 		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 1:182,759,785...182,788,422
Ensembl chr 1:182,759,740...182,788,161 		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 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503 		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 1:182,709,653...182,740,709
Ensembl chr 1:182,719,609...182,740,698 		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 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633 		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 1:182,381,196...182,386,055
Ensembl chr 1:182,344,293...182,386,052 		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 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124 		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 1:182,083,836...182,089,330
Ensembl chr 1:182,084,126...182,089,317 		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 1:182,543,085...182,561,141
Ensembl chr 1:182,543,085...182,559,280 		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 1:182,494,944...182,501,607
Ensembl chr 1:182,494,955...182,500,115 		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 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815 		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 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955 		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 1:182,202,475...182,217,899
Ensembl chr 1:182,202,600...182,217,241 		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 1:182,852,257...182,881,652
Ensembl chr 1:182,852,262...182,880,732 		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 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090 		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 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306 		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 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610 		JBrowse link
G Stx1b syntaxin 1B ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280 		JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979 		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 1:182,828,553...182,835,465
Ensembl chr 1:182,828,544...182,837,080 		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 1:182,613,753...182,621,613
Ensembl chr 1:182,613,712...182,621,606 		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 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
G Zfp629 zinc finger protein 629 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,217,499...182,258,585
Ensembl chr 1:182,210,935...182,230,016 		JBrowse link
G Zfp646 zinc finger protein 646 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,485,009...182,494,961
Ensembl chr 1:182,485,949...182,494,731 		JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878 		JBrowse link
G Zfp688 zinc finger protein 688 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 Ensembl chr 1:182,039,931...182,043,103 JBrowse link
G Zfp689 zinc finger protein 689 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,065,885...182,074,343
Ensembl chr 1:182,065,826...182,076,679 		JBrowse link
G Zfp764 zinc finger protein 764 ISO ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency ClinVar PMID:25741868 NCBI chr 1:182,002,868...182,013,202
Ensembl chr 1:182,009,896...182,013,252 		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 DNA:deletion:exon:699_859del (human)
ClinVar Annotator: match by term: Brown oculocutaneous albinism		 ClinVar
RGD		 PMID:7920637 PMID:11179026 PMID:17767372 PMID:11179026 RGD:9491819 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		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: Monoamine oxidase A deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8211186 PMID:9536098 PMID:11700166 PMID:17576681 PMID:24169519 More... NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		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 ISO CPS I deficiency, OMIM:237300, DNA:splice-site mutation
ClinVar Annotator: match by term: Congenital hyperammonemia, type I
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... RGD:1600715 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		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 chr 1:242,844,575...242,873,465
Ensembl chr 1:242,844,212...242,873,465 		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 chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053 		JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,712,505...9,719,711
Ensembl chr 7:9,712,516...9,719,656 		JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818 		JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,531,995...9,533,705 JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486 		JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,924,670...9,929,195
Ensembl chr 7:9,923,576...9,939,639 		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 chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183 		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 chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172 		JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752 		JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:12468279 PMID:15108290 PMID:25741868 PMID:28492532 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195 		JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555 		JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585 		JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296 		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 chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791 		JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922 		JBrowse link
G Prtn3 proteinase 3 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944 		JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397 		JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597 		JBrowse link
G RGD1359127 similar to RIKEN cDNA 2310011J03 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,390,255...9,392,383 JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738 		JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome ClinVar PMID:28492532 NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070 		JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,138,419...51,262,956
Ensembl chr17:51,138,535...51,262,906 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407 		JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G Ero1b endoplasmic reticulum oxidoreductase 1 beta ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254 		JBrowse link
G Gpr137b G protein-coupled receptor 137B ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,003,630...86,041,841
Ensembl chr17:85,966,921...86,041,835 		JBrowse link
G Heatr1 HEAT repeat containing 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,051,700...58,093,895
Ensembl chr17:58,051,700...58,093,948 		JBrowse link
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642 		JBrowse link
G Lgals8 galectin 8 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,024,652...58,052,764
Ensembl chr17:58,028,105...58,052,764 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP
ISO		 ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar
OMIM
RGD		 PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More... RGD:633300 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Mt1m metallothionein 1M ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr20:3,159,023...3,159,401
Ensembl chr 5:119,728,811...119,730,073
Ensembl chr19:119,728,811...119,730,073 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,085,046...86,158,277
Ensembl chr17:86,085,077...86,158,267 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Tarbp1 TAR (HIV-1) RNA binding protein 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198 		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 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Ass1 argininosuccinate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 PMID:6124451 More... RGD:1599301 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575 		JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,855,527...14,904,540
Ensembl chr 3:14,855,557...14,904,540 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Citrullinemia ClinVar PMID:28492532 NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331 		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:10369257 PMID:11153906 PMID:11343052 PMID:11793471 PMID:12512993 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10805333 PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		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 chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		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:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
classic citrullinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: ASS deficiency ClinVar PMID:11941481 PMID:25741868 PMID:28492532 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
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 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: argininosuccinate synthetase deficiency ClinVar PMID:11941481 PMID:15654334 PMID:16424354 PMID:16554528 PMID:16571601 More... NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		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 chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		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 ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness OMIM
ClinVar		 PMID:27889061 PMID:30311386 PMID:34599368 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		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 chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		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:16199547 PMID:21785126 PMID:21841779 PMID:22421630 More... NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553 		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: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 OMIM
ClinVar		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
creatine transporter deficiency 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:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11326334 PMID:11898126 PMID:12210795 PMID:12536364 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645 PMID:22659343 PMID:28492532 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		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 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		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 chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669 		JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112 		JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 More... NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria		 ClinVar
OMIM
RGD		 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria		 ClinVar
OMIM
RGD		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... RGD:737767 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641 		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 chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		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:28492532 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
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 chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,472,492...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,912,049...91,935,292
Ensembl chr 9:91,912,049...91,935,292 		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:28492532 NCBI chr 9:94,053,650...94,162,212
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,382,456...94,387,990 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:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,526,691...93,539,302
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,001,838...92,003,580
Ensembl chr 9:92,001,841...92,003,559 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892 		JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,326,919...94,344,220
Ensembl chr 9:94,326,548...94,344,220 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,942,443...91,952,756
Ensembl chr 9:91,942,504...91,952,730 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576 		JBrowse link
G Olr1343 olfactory receptor 1343 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,886,068...93,909,991
Ensembl chr 9:93,886,143...93,914,850 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Prr21 proline rich 21 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,845,954...91,881,145
Ensembl chr 9:91,845,987...91,880,594 		JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		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 ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria OMIM
ClinVar		 PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		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 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		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 ClinVar
OMIM		 PMID:28285122 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511 		JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:15879500 PMID:19763152 PMID:20307669 PMID:21398687 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
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 chr13:87,613,610...87,615,475
Ensembl chr13:87,589,298...87,619,862 		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 chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency OMIM
ClinVar		 PMID:2314594 PMID:8007976 PMID:8200987 PMID:9300800 PMID:9536098 More... NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		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 chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881 		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 chr13:87,589,330...87,619,847
Ensembl chr13:87,589,333...87,619,847 		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 chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868 		JBrowse link
G Rgs7 regulator of G-protein signaling 7 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:28492532 NCBI chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888 		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 chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327 		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: 4 alpha aminobutyrate transaminase deficiency | ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6148708 PMID:9536098 PMID:10407778 PMID:15642443 PMID:16199547 More... NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:20052547 PMID:25738457 PMID:28492532 NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:20052547 PMID:25738457 PMID:28492532 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: 4 alpha aminobutyrate transaminase deficiency | ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:20052547 PMID:25738457 PMID:28492532 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G RGD1309748 similar to CG4768-PA ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:20052547 PMID:25738457 PMID:28492532 NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: 4 alpha aminobutyrate transaminase deficiency | ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:20052547 PMID:25738457 PMID:28492532 NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256 		JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:20052547 PMID:25738457 PMID:28492532 NCBI chr10:6,880,684...6,925,033
Ensembl chr10:6,828,795...6,925,355 		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 chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		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		 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900 		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 OMIM
ClinVar		 PMID:10515893 PMID:25741868 PMID:28492532 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16267323 PMID:17576681 PMID:21353613 PMID:25741868 More... NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108 		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 chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		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 chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339 		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 chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		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 chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		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 chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589 		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 chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881 		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 chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376 		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 chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		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 chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439 		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 chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 More... RGD:13515124 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		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 chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193 		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 chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181 		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 chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211 		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 chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035 		JBrowse link
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		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 chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007 		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 chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389 		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 chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		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 chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		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 chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		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 chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194 		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 chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695 		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 chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041 		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 chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		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