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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


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 ISO RGD PMID:10353334 RGD:1599267 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8486760 PMID:17310273 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9571255 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843 		JBrowse link
G NAGS N-acetylglutamate synthase IAGP
EXP		 ClinVar Annotator: match by term: Hyperammonemia, type III
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9877039 PMID:12594532 PMID:12754705 PMID:15050968 PMID:15714518 More... NCBI chr17:44,004,622...44,009,068
Ensembl chr17:44,004,622...44,009,068 		JBrowse link
G OTC ornithine transcarbamylase IAGP
EXP		 DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Hyperammonaemia
ClinVar Annotator: match by term: Hyperammonemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:6825366 PMID:8424807 PMID:8562862 PMID:8581365 PMID:8778603 More... RGD:1600998, RGD:1600999 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP ClinVar Annotator: match by term: Hyperammonaemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PRKCQ protein kinase C theta ISO protein:altered localization:neuron RGD PMID:15606904 RGD:1625610 NCBI chr10:6,394,097...6,580,646
Ensembl chr10:6,427,143...6,580,301 		JBrowse link
G PYY peptide YY IAGP ClinVar Annotator: match by term: Hyperammonemia, type III ClinVar PMID:28492532 PMID:30337552 PMID:33309754 PMID:34510628 NCBI chr17:43,952,733...44,004,445
Ensembl chr17:43,952,733...44,004,469 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 IAGP RGD PMID:10805333 PMID:10369256 RGD:1599240, RGD:1599239 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460 		JBrowse link
G TLR5 toll like receptor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30508503 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292 		JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:20714149 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		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 BANP BTG3 associated nuclear protein IAGP ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chr16:87,949,238...88,077,318
Ensembl chr16:87,949,244...88,077,318 		JBrowse link
G CA5A carbonic anhydrase 5A IAGP ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24530203 PMID:25640679 PMID:25741868 More... NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 treatment ISO RGD PMID:29801986 RGD:13628400 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G JPH3 junctophilin 3 IAGP ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156 		JBrowse link
G KLHDC4 kelch domain containing 4 IAGP ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chr16:87,698,146...87,765,986
Ensembl chr16:87,696,485...87,765,992 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 IAGP ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to ClinVar PMID:24530203 PMID:26913920 PMID:28492532 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		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 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G BCOR BCL6 corepressor IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317 		JBrowse link
G CXorf38 chromosome X open reading frame 38 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:40,626,921...40,647,561
Ensembl chr  X:40,626,921...40,647,561 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DYNLT3 dynein light chain Tctex-type 3 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:37,838,836...37,847,571
Ensembl chr  X:37,836,757...37,847,571 		JBrowse link
G EFHC2 EF-hand domain containing 2 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:44,147,872...44,343,672
Ensembl chr  X:44,147,872...44,343,672 		JBrowse link
G FAM47A family with sequence similarity 47 member A IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:34,129,752...34,132,314
Ensembl chr  X:34,129,752...34,132,314 		JBrowse link
G FAM47B family with sequence similarity 47 member B IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:34,942,796...34,944,915
Ensembl chr  X:34,942,796...34,944,915 		JBrowse link
G FAM47C family with sequence similarity 47 member C IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:37,008,366...37,011,664
Ensembl chr  X:37,008,366...37,011,664 		JBrowse link
G FTHL17 ferritin heavy chain like 17 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:31,071,233...31,072,041
Ensembl chr  X:31,071,233...31,072,041 		JBrowse link
G GK glycerol kinase IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462 		JBrowse link
G H2AP H2A.P histone IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:37,990,779...37,991,314
Ensembl chr  X:37,990,779...37,991,314 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment IEP RGD PMID:16703326 RGD:12743607 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G LANCL3 LanC like family member 3 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:37,571,661...37,684,463
Ensembl chr  X:37,571,569...37,684,463 		JBrowse link
G MAGEB16 MAGE family member B16 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:35,798,342...35,803,772
Ensembl chr  X:35,798,342...35,803,772 		JBrowse link
G MED14 mediator complex subunit 14 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:40,648,305...40,736,159
Ensembl chr  X:40,648,305...40,735,858 		JBrowse link
G MID1IP1 MID1 interacting protein 1 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:38,801,459...38,806,532
Ensembl chr  X:38,801,440...38,806,537 		JBrowse link
G MPC1L mitochondrial pyruvate carrier 1 like IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:40,623,428...40,624,136
Ensembl chr  X:40,623,428...40,624,136 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G OTC ornithine transcarbamylase ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
ClinVar Annotator: match by term: OTC deficiency
OMIM:311250
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutations:multiple (human)
DNA:missense mutation:exon:EX4p.R129H (mouse)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1353535 PMID:1480464 PMID:1627356 PMID:1671317 PMID:1721894 More... RGD:4144079, RGD:1600999, RGD:1600998, RGD:4144085 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PRRG1 proline rich and Gla domain 1 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:37,349,364...37,457,291
Ensembl chr  X:37,349,309...37,492,702 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G SRPX sushi repeat containing protein X-linked IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:38,149,339...38,220,871
Ensembl chr  X:38,149,336...38,220,924 		JBrowse link
G SYTL5 synaptotagmin like 5 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:37,888,915...38,128,820
Ensembl chr  X:38,006,553...38,128,819 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:30,827,442...30,889,254
Ensembl chr  X:30,827,442...30,975,084 		JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:30,558,809...30,577,766
Ensembl chr  X:30,558,809...30,577,766 		JBrowse link
G TMEM47 transmembrane protein 47 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:34,627,075...34,657,285
Ensembl chr  X:34,627,075...34,657,285 		JBrowse link
G TSPAN7 tetraspanin 7 IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:38,561,542...38,688,918
Ensembl chr  X:38,561,542...38,688,920 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 More... NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency ClinVar PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More... NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
ornithine translocase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130009616 ATAC-STARR-seq lymphoblastoid silent region 5286 IAGP ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ClinVar PMID:25741868 NCBI chr13:40,789,181...40,789,760 JBrowse link
G SLC25A15 solute carrier family 25 member 15 IAGP
EXP		 ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 More... NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460 		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 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:131,949,973...132,012,213
Ensembl chr 5:131,949,973...132,012,243 		JBrowse link
G CDC42SE2 CDC42 small effector 2 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:131,210,052...131,394,672
Ensembl chr 5:131,245,493...131,398,447 		JBrowse link
G CSF2 colony stimulating factor 2 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G FNIP1 folliculin interacting protein 1 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G IL3 interleukin 3 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204 		JBrowse link
G LOC129994569 ATAC-STARR-seq lymphoblastoid silent region 16317 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect
ClinVar Annotator: match by term: Carnitine transporter deficiency		 ClinVar PMID:3974805 PMID:9916797 PMID:16830263 PMID:19141711 PMID:20208395 More... NCBI chr 5:132,369,593...132,369,912 JBrowse link
G LOC129994570 ATAC-STARR-seq lymphoblastoid active region 23068 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:132,385,618...132,385,947 JBrowse link
G LOC129994571 ATAC-STARR-seq lymphoblastoid active region 23069 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:132,386,441...132,386,490 JBrowse link
G LOC129994572 ATAC-STARR-seq lymphoblastoid active region 23070 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:132,386,631...132,386,840 JBrowse link
G LYRM7 LYR motif containing 7 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428 		JBrowse link
G MIR3936HG MIR3936 host gene IAGP ClinVar Annotator: match by term: Renal carnitine transport defect
ClinVar Annotator: match by term: Carnitine transporter deficiency		 ClinVar PMID:3974805 PMID:9916797 PMID:16830263 PMID:19141711 PMID:20208395 More... NCBI chr 5:132,311,276...132,369,916
Ensembl chr 5:132,311,285...132,370,170 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G PDLIM4 PDZ and LIM domain 4 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr 5:132,257,696...132,273,454
Ensembl chr 5:132,257,696...132,273,454 		JBrowse link
G RAPGEF6 Rap guanine nucleotide exchange factor 6 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chr 5:131,423,921...131,635,229
Ensembl chr 5:131,423,921...131,635,231 		JBrowse link
G RNF167 ring finger protein 167 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr17:4,940,092...4,945,222
Ensembl chr17:4,940,008...4,945,222 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 IAGP ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP
ISS
EXP		 DNA:missense mutations:cds:p.S28I, p.Y447C (human)
ClinVar Annotator: match by term: Carnitine Deficiency, Systemic | ClinVar Annotator: match by term: Renal carnitine transport defect | ClinVar Annotator: match by term: Systemic primary carnitine deficiency disease
ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect
OMIM:212140
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 More... RGD:1580611 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    Pathological Conditions, Signs and Symptoms 53656
      Pathologic Processes 28396
        Hyperammonemia 67
          CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 7
          ornithine carbamoyltransferase deficiency 32
          ornithine translocase deficiency 2
          systemic primary carnitine deficiency disease 18
paths to the root