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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:Hyperammonemia
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Accession:DOID:9008972 term browser browse the term
Definition:Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
Synonyms:narrow_synonym: HYPERAMMONEMIA, TYPE III
 related_synonym: HYPERAMMONAEMIA
 primary_id: MESH:D022124;   RDO:0000602
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hyperammonemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ass1 argininosuccinate synthase 1 IEP RGD PMID:10353334 RGD:1599267 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8486760, PMID:17310273 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Nags N-acetylglutamate synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperammonemia, type III
CTD
ClinVar
PMID:9877039, PMID:12594532, PMID:12754705, PMID:15714518, PMID:17421020, PMID:17703373, PMID:23894642, PMID:25741868, PMID:28492532 NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
JBrowse link
G Otc ornithine carbamoyltransferase ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Hyperammonaemia
ClinVar Annotator: match by term: Hyperammonemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:6825366, PMID:8424807, PMID:8562862, PMID:8581365, PMID:8778603, PMID:8807340, PMID:9598692, PMID:10227223, PMID:11286510, PMID:17613537, PMID:18204299, PMID:18440262, PMID:19669271, PMID:20406775, PMID:25637381, PMID:25741868, PMID:28492532, PMID:30311386, PMID:11793468, PMID:8956038 RGD:1600999, RGD:1600998 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Prkcq protein kinase C, theta IEP protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO RGD PMID:10805333, PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
G Tlr5 toll-like receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to
ClinVar Annotator: match by term: Carbonic anhydrase va deficiency, hyperammonemia due to
OMIM
ClinVar
PMID:24530203, PMID:25741868, PMID:26913920, PMID:28492532 NCBI chr19:54,731,829...54,761,697
Ensembl chr19:54,731,859...54,761,670
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:46,553,745...46,680,769
NCBI chr  X:46,701,342...46,767,826
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:14,633,342...14,642,356
Ensembl chr  X:14,633,342...14,642,424
JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:45,965,258...45,966,930
Ensembl chr  X:45,965,301...45,966,934
JBrowse link
G Fthl17e ferritin, heavy polypeptide-like 17, member E ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:53,628,946...53,629,936
Ensembl chr  X:53,629,255...53,629,803
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:13,989,401...13,989,955
Ensembl chr  X:13,989,401...13,989,955
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16703326 RGD:12743607 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Lancl3 LanC like 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:14,358,224...14,490,340
Ensembl chr  X:14,358,224...14,490,340
JBrowse link
G LOC691895 similar to ferritin, heavy polypeptide-like 17 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:14,782,958...14,783,792
Ensembl chr  X:14,782,958...14,783,792
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:46,977,655...47,026,377
Ensembl chr  X:46,977,655...47,078,128
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:10,964,035...11,082,403
Ensembl chr  X:10,963,809...11,082,565
JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:13,114,557...13,119,274
Ensembl chr  X:13,114,569...13,116,743
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:11,098,849...11,105,312 JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
G Otc ornithine carbamoyltransferase IMP
ISO
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
ClinVar Annotator: match by term: OTC deficiency
DNA:missense mutations:multiple (human)
DNA:missense mutation:exon:EX4p.R129H (mouse)
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by OMIM:311250
ClinVar
CTD
OMIM
PMID:1353535, PMID:1480464, PMID:1627356, PMID:1671317, PMID:1721894, PMID:1757964, PMID:2035531, PMID:2037279, PMID:2208768, PMID:2246687, PMID:2347583, PMID:2474822, PMID:2556444, PMID:2741942, PMID:2836378, PMID:2843770, PMID:3170748, PMID:7474892, PMID:7627182, PMID:7860064, PMID:7860066, PMID:7951259, PMID:8081398, PMID:8260194, PMID:8364586, PMID:8365726, PMID:8530002, PMID:8566955, PMID:8778603, PMID:8786061, PMID:8807340, PMID:8829665, PMID:8830175, PMID:8857803, PMID:8863155, PMID:8956038, PMID:8985493, PMID:9007316, PMID:9028466, PMID:9048915, PMID:9056557, PMID:9143919, PMID:9175746, PMID:9266388, PMID:9286441, PMID:9427144, PMID:9452049, PMID:9501271, PMID:9609999, PMID:9610619, PMID:10070627, PMID:10405441, PMID:10799432, PMID:10946359, PMID:11102556, PMID:11117428, PMID:11260212, PMID:11388595, PMID:11768581, PMID:11793468, PMID:11793483, PMID:12083811, PMID:12402347, PMID:12536032, PMID:16677864, PMID:16786505, PMID:17041896, PMID:17044854, PMID:17334707, PMID:17565723, PMID:17613537, PMID:18204299, PMID:18440262, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19669271, PMID:19783189, PMID:19893582, PMID:20406775, PMID:20458665, PMID:20817516, PMID:21070677, PMID:21956151, PMID:22340867, PMID:22382802, PMID:22494545, PMID:22727265, PMID:23209112, PMID:23278509, PMID:23769969, PMID:23821427, PMID:24010702, PMID:24033266, PMID:25011434, PMID:25026867, PMID:25433810, PMID:25637381, PMID:25741868, PMID:25741869, PMID:25853564, PMID:25949836, PMID:25994866, PMID:26059767, PMID:26574542, PMID:26753873, PMID:26819360, PMID:27070778, PMID:28266016, PMID:28492532, PMID:28815739, PMID:29282796, PMID:29581464, PMID:30175132, PMID:30285816, PMID:30311386, PMID:31426867, PMID:32410394, PMID:7827141, PMID:11793468, PMID:8956038, PMID:2471197 RGD:4144079, RGD:1600999, RGD:1600998, RGD:4144085 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:45,698,240...45,806,238
Ensembl chr  X:45,698,237...45,806,198
JBrowse link
G RGD1565685 similar to RIKEN cDNA 1810030O07 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:11,082,668...11,105,588
Ensembl chr  X:11,084,317...11,105,588
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:14,146,618...14,220,756
Ensembl chr  X:14,150,038...14,220,662
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:13,857,669...14,109,592
Ensembl chr  X:14,019,961...14,109,568
JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:54,035,958...54,090,282
Ensembl chr  X:54,062,935...54,086,339
JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:54,390,733...54,409,466
Ensembl chr  X:54,390,733...54,409,466
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:48,779,110...48,805,644
Ensembl chr  X:48,779,110...48,805,644
JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:13,261,551...13,282,886
Ensembl chr  X:13,261,558...13,279,099
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468, PMID:18487280, PMID:19138872, PMID:19475717, PMID:19783189, PMID:22382802, PMID:22494545, PMID:28492532 NCBI chr  X:14,497,376...14,534,479
Ensembl chr  X:14,498,119...14,534,473
JBrowse link
ornithine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps31 mitochondrial ribosomal protein S31 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ClinVar PMID:10369256, PMID:28492532 NCBI chr16:74,467,874...74,504,834
Ensembl chr16:74,467,851...74,496,731
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
ClinVar Annotator: match by OMIM:238970
OMIM
ClinVar
PMID:3407856, PMID:10369256, PMID:10805333, PMID:11355015, PMID:11552031, PMID:12807890, PMID:16376511, PMID:16601889, PMID:16940241, PMID:17825324, PMID:18666241, PMID:19242930, PMID:22649802, PMID:23430880, PMID:24473688, PMID:25741868, PMID:25818551, PMID:25874378, PMID:26589310, PMID:28492532, PMID:29554876, PMID:30243302, PMID:32214227 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link
systemic primary carnitine deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl6 acyl-CoA synthetase long-chain family member 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,654,771...39,717,592
Ensembl chr10:39,655,455...39,719,312
JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:40,054,393...40,122,915
Ensembl chr10:40,054,400...40,122,915
JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,786,687...39,870,188 JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:40,183,061...40,201,992
Ensembl chr10:40,183,078...40,201,992
JBrowse link
G P4ha2 prolyl 4-hydroxylase subunit alpha 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,435,227...39,464,134
Ensembl chr10:39,435,227...39,464,188
JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,390,578...39,405,322
Ensembl chr10:39,390,581...39,405,311
JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,875,322...40,039,929
Ensembl chr10:39,875,371...40,039,929
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
JBrowse link
G Slc22a4 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985, PMID:28492532 NCBI chr10:39,334,972...39,373,508 JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO DNA:missense mutations:cds:p.S28I, p.Y447C (human)
ClinVar Annotator: match by term: Renal carnitine transport defect
ClinVar Annotator: match by OMIM:212140
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2199596, PMID:2216472, PMID:2235122, PMID:3215194, PMID:3974805, PMID:9634512, PMID:9700600, PMID:9700603, PMID:9826541, PMID:9916797, PMID:10051646, PMID:10072434, PMID:10425211, PMID:10454528, PMID:10480371, PMID:10545605, PMID:10559218, PMID:10612840, PMID:10679939, PMID:11058897, PMID:11261427, PMID:11715001, PMID:12183691, PMID:12204000, PMID:12210323, PMID:12408185, PMID:12409266, PMID:14605509, PMID:14665638, PMID:15107849, PMID:15303004, PMID:15523054, PMID:15617188, PMID:15714519, PMID:16333318, PMID:16437728, PMID:16602102, PMID:16652335, PMID:16830263, PMID:16865412, PMID:16931768, PMID:17126586, PMID:17213842, PMID:17594400, PMID:17703373, PMID:18337137, PMID:18673259, PMID:19141711, PMID:19208393, PMID:19238580, PMID:19419416, PMID:20027113, PMID:20074989, PMID:20208395, PMID:20574985, PMID:21126579, PMID:21864509, PMID:21922592, PMID:22116472, PMID:23090741, PMID:23379544, PMID:23430798, PMID:23430858, PMID:23430869, PMID:23520115, PMID:23653224, PMID:23757202, PMID:23798014, PMID:23963628, PMID:24033266, PMID:24516753, PMID:24517888, PMID:24746540, PMID:24997454, PMID:25132046, PMID:25224063, PMID:25525159, PMID:25665836, PMID:25741868, PMID:25846890, PMID:25961151, PMID:26075114, PMID:26190315, PMID:26252091, PMID:26350513, PMID:26589311, PMID:26828774, PMID:26990548, PMID:27181684, PMID:27320645, PMID:27581592, PMID:27896095, PMID:27931018, PMID:28074886, PMID:28295041, PMID:28492532, PMID:28554332, PMID:28711408, PMID:28753539, PMID:28841266, PMID:29132460, PMID:29790872, PMID:30609409, PMID:30838026, PMID:30863740, PMID:30904546, PMID:31187905, PMID:31364285, PMID:31864849, PMID:12408185 RGD:1580611 NCBI chr10:39,201,101...39,228,090
Ensembl chr10:39,201,107...39,323,853
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Hyperammonemia 53
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 2
          ornithine carbamoyltransferase deficiency 30
          ornithine translocase deficiency 2
          systemic primary carnitine deficiency disease 13
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.