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G |
Ass1 |
argininosuccinate synthase 1 |
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IEP |
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RGD |
PMID:10353334 |
RGD:1599267 |
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8486760 PMID:17310273 |
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NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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G |
Glud1 |
glutamate dehydrogenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9571255 |
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NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G |
Nags |
N-acetylglutamate synthase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperammonemia, type III |
CTD ClinVar |
PMID:9877039 PMID:12594532 PMID:12754705 PMID:15050968 PMID:15714518 PMID:15858972 PMID:15878741 PMID:16199547 PMID:17421020 PMID:17703373 PMID:23776373 PMID:23894642 PMID:24233332 PMID:25741868 PMID:27037498 PMID:27570737 PMID:28492532 PMID:30337552 PMID:31575911 PMID:32021803 PMID:33309754 PMID:34510628 PMID:38740568 More...
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NCBI chr10:87,098,330...87,102,465
Ensembl chr10:87,098,330...87,102,465
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G |
Otc |
ornithine transcarbamylase |
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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 RGD |
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:33489762 PMID:34014569 PMID:11793468 PMID:8956038 More...
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RGD:1600999, RGD:1600998 |
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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G |
Pccb |
propionyl-CoA carboxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Hyperammonaemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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G |
Prkcq |
protein kinase C, theta |
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IEP |
protein:altered localization:neuron |
RGD |
PMID:15606904 |
RGD:1625610 |
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
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G |
Pyy |
peptide YY |
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ISO |
ClinVar Annotator: match by term: Hyperammonemia, type III |
ClinVar |
PMID:28492532 PMID:30337552 PMID:33309754 PMID:34510628 |
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NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815
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G |
Slc25a15 |
solute carrier family 25 member 15 |
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ISO |
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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
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G |
Tlr5 |
toll-like receptor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30508503 |
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NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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G |
Tyms |
thymidylate synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20714149 |
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NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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G |
Banp |
Btg3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to |
ClinVar |
PMID:24530203 PMID:26913920 PMID:28492532 |
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NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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G |
Car5a |
carbonic anhydrase 5A |
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ISO |
ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24530203 PMID:25640679 PMID:25741868 PMID:25834911 PMID:26913920 PMID:28492532 PMID:31641285 PMID:32381389 PMID:33473334 More...
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NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
treatment |
ISO |
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RGD |
PMID:29801986 |
RGD:13628400 |
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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G |
Jph3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to |
ClinVar |
PMID:24530203 PMID:26913920 PMID:28492532 |
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NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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G |
Klhdc4 |
kelch domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to |
ClinVar |
PMID:24530203 PMID:26913920 PMID:28492532 |
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NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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G |
Slc7a5 |
solute carrier family 7 member 5 |
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ISO |
ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to |
ClinVar |
PMID:24530203 PMID:26913920 PMID:28492532 |
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NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to |
ClinVar |
PMID:24530203 PMID:26913920 PMID:28492532 |
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NCBI chr19:50,282,337...50,324,010
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G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
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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 More...
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NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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G |
Bcor |
BCL6 co-repressor |
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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 More...
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Cfap47 |
cilia and flagella associated protein 47 |
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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 More...
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NCBI chr X:43,264,687...43,616,607
Ensembl chr X:43,263,490...43,616,852
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G |
Cxhxorf38 |
similar to human chromosome X open reading frame 38 |
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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 More...
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NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900
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G |
Cybb |
cytochrome b-245 beta chain |
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ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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G |
Dmd |
dystrophin |
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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 More...
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Dynlt3 |
dynein light chain Tctex-type 3 |
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ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139
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G |
Efhc2 |
EF-hand domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:5,360,499...5,564,004
Ensembl chr X:5,360,617...5,560,970
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G |
Fam47a |
family with sequence similarity 47, member A |
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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 More...
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NCBI chr X:42,762,231...42,763,887
Ensembl chr X:42,762,229...42,763,883
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G |
Fthl17a |
ferritin, heavy polypeptide-like 17, member A |
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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 More...
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NCBI chr X:49,595,422...49,596,399
Ensembl chr X:49,595,718...49,596,266
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G |
Gk |
glycerol kinase |
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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 More...
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NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
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G |
H2ap |
H2A.P histone |
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ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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NCBI chr X:12,907,962...12,908,516
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
treatment |
ISO |
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RGD |
PMID:16703326 |
RGD:12743607 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Lancl3 |
LanC like family member 3 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:11793468 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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NCBI chr X:13,478,499...13,609,934
Ensembl chr X:13,480,311...13,609,678
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G |
Mageb16 |
MAGE family member B16 |
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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 More...
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NCBI chr X:43,693,205...43,725,664
Ensembl chr X:43,693,211...43,725,657
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G |
Med14 |
mediator complex subunit 14 |
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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 More...
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NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240
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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 More...
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NCBI chr X:12,060,993...12,063,318
Ensembl chr X:12,060,883...12,065,774
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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 More...
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NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145
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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 More...
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NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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G |
Otc |
ornithine transcarbamylase |
|
IMP ISO ISS |
ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency OMIM:311250 DNA:missense mutations:multiple (human) DNA:missense mutation:exon:EX4p.R129H (mouse) CTD Direct Evidence: marker/mechanism|therapeutic |
ClinVar MouseDO CTD OMIM RGD |
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:7474905 PMID:7627182 PMID:7860064 PMID:7860066 PMID:7951259 PMID:8019569 PMID:8081398 PMID:8099056 PMID:8112735 PMID:8260194 PMID:8295401 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:9266387 PMID:9266388 PMID:9286441 PMID:9427144 PMID:9452024 PMID:9452049 PMID:9501271 PMID:9536098 PMID:9609999 PMID:9610619 PMID:9686344 PMID:9852088 PMID:10070627 PMID:10405441 PMID:10502831 PMID:10737985 PMID:10799432 PMID:10869432 PMID:10946359 PMID:11102556 PMID:11117428 PMID:11260212 PMID:11388595 PMID:11745010 PMID:11768581 PMID:11793468 PMID:11793483 PMID:12083811 PMID:12402347 PMID:12536032 PMID:12579493 PMID:14976564 PMID:15060014 PMID:15174800 PMID:16055928 PMID:16199547 PMID:16635166 PMID:16677864 PMID:16786505 PMID:16969763 PMID:17041896 PMID:17044854 PMID:17334707 PMID:17565723 PMID:17576681 PMID:17613537 PMID:17922216 PMID:18030415 PMID:18204299 PMID:18440262 PMID:18487280 PMID:18604903 PMID:18662984 PMID:19138872 PMID:19475717 PMID:19669271 PMID:19783189 PMID:19893582 PMID:20406775 PMID:20458665 PMID:20817516 PMID:21070677 PMID:21488237 PMID:21956151 PMID:22099885 PMID:22340867 PMID:22382802 PMID:22494545 PMID:22727265 PMID:23209112 PMID:23278509 PMID:23551631 PMID:23568734 PMID:23769969 PMID:24006547 PMID:24010702 PMID:24055113 PMID:24199608 PMID:24449986 PMID:25011434 PMID:25026867 PMID:25297582 PMID:25425289 PMID:25433810 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25741869 PMID:25853564 PMID:25854183 PMID:25949836 PMID:25958381 PMID:25994866 PMID:26059767 PMID:26467025 PMID:26574542 PMID:26753873 PMID:26819360 PMID:27070778 PMID:27489649 PMID:27738433 PMID:28107167 PMID:28261508 PMID:28266016 PMID:28324312 PMID:28492532 PMID:28815739 PMID:28887792 PMID:29123827 PMID:29282796 PMID:29581464 PMID:30175132 PMID:30285816 PMID:30626930 PMID:31130284 PMID:31131953 PMID:31426867 PMID:32272297 PMID:32410394 PMID:32793520 PMID:32853555 PMID:32934962 PMID:32995020 PMID:33190319 PMID:33272297 PMID:33309754 PMID:33369132 PMID:33489762 PMID:33551825 PMID:33851512 PMID:34014557 PMID:34014569 PMID:34015158 PMID:34440436 PMID:34906067 PMID:35605046 PMID:35822098 PMID:35949797 PMID:36211161 PMID:36303552 PMID:7827141 PMID:11793468 PMID:8956038 PMID:2471197 More...
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RGD:4144079, RGD:1600999, RGD:1600998, RGD:4144085 |
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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G |
Prrg1 |
proline rich and Gla domain 1 |
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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 More...
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NCBI chr X:42,494,256...42,606,612
Ensembl chr X:42,494,256...42,606,588
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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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G |
Srpx |
sushi-repeat-containing protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
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G |
Sytl5 |
synaptotagmin-like 5 |
|
ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
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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 More...
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NCBI chr X:49,972,414...50,044,658
Ensembl chr X:49,972,330...50,042,056
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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 More...
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NCBI chr X:50,403,962...50,423,141
Ensembl chr X:50,361,248...50,423,269
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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 More...
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NCBI chr X:45,421,405...45,447,900
Ensembl chr X:45,421,405...45,447,900
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G |
Tspan7 |
tetraspanin 7 |
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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 More...
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NCBI chr X:12,208,783...12,306,092
Ensembl chr X:12,208,783...12,306,131
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Usp9x |
ubiquitin specific peptidase 9, X-linked |
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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 More...
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NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
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ISO |
ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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NCBI chr X:13,436,412...13,472,830
Ensembl chr X:13,436,418...13,472,830
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G |
Slc25a15 |
solute carrier family 25 member 15 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency |
OMIM CTD ClinVar |
PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 PMID:11552031 PMID:11668643 PMID:12807890 PMID:14759633 PMID:16199547 PMID:16376511 PMID:16601889 PMID:16940241 PMID:17576681 PMID:17825324 PMID:18376250 PMID:18406340 PMID:18666241 PMID:18978333 PMID:19242930 PMID:22292090 PMID:22649802 PMID:23430880 PMID:24473688 PMID:25741868 PMID:25818551 PMID:25874378 PMID:26589310 PMID:28492532 PMID:29554876 PMID:30187369 PMID:30243302 PMID:31443672 PMID:31589614 PMID:32214227 PMID:32340404 More...
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NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
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G |
Acsl6 |
acyl-CoA synthetase long-chain family member 6 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
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NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
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G |
Cdc42se2 |
CDC42 small effector 2 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
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NCBI chr10:38,836,549...38,905,056
Ensembl chr10:38,836,555...38,905,059 Ensembl chr 1:38,836,555...38,905,059
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G |
Csf2 |
colony stimulating factor 2 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
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NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Fnip1 |
folliculin interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
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NCBI chr10:38,567,728...38,650,824
Ensembl chr10:38,567,729...38,650,824
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G |
Hint1 |
histidine triad nucleotide binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
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NCBI chr10:38,989,516...38,993,259
Ensembl chr 4:92,100,973...92,101,568
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G |
Il3 |
interleukin 3 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
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NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Lyrm7 |
LYR motif containing 7 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
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NCBI chr10:38,964,299...38,983,628
Ensembl chr10:38,964,311...38,983,601
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G |
P4ha2 |
prolyl 4-hydroxylase subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:20574985 PMID:28492532 |
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NCBI chr10:38,243,136...38,271,983
Ensembl chr10:38,243,139...38,287,314
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Pdlim4 |
PDZ and LIM domain 4 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:20574985 PMID:28492532 |
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NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938
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Rapgef6 |
Rap guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:28492532 |
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NCBI chr10:38,655,854...38,824,227
Ensembl chr10:38,655,867...38,823,211
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G |
Rnf167 |
ring finger protein 167 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
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NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
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Slc22a4 |
solute carrier family 22 member 4 |
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ISO |
ClinVar Annotator: match by term: Renal carnitine transport defect |
ClinVar |
PMID:20574985 PMID:28492532 |
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NCBI chr10:38,133,333...38,179,932
Ensembl chr10:38,133,322...38,179,720
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Slc22a5 |
solute carrier family 22 member 5 |
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ISO ISS |
DNA:missense mutations:cds:p.S28I, p.Y447C (human) ClinVar Annotator: match by term: Carnitine Deficiency, Systemic | ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect | ClinVar Annotator: match by term: Systemic primary carnitine deficiency disease ClinVar Annotator: match by term: CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF | ClinVar Annotator: match by term: Carnitine Deficiency, Systemic | ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect | ClinVar Annotator: match by term: Systemic primary carnitine deficiency disease OMIM:212140 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 PMID:9536098 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:11715001 PMID:12183691 PMID:12204000 PMID:12210323 PMID:12408185 PMID:12409266 PMID:14506273 PMID:14605509 PMID:14665638 PMID:15303004 PMID:15523054 PMID:15617188 PMID:15714519 PMID:16199547 PMID:16602102 PMID:16652335 PMID:16830263 PMID:16931768 PMID:17126586 PMID:17486650 PMID:17576681 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:22494076 PMID:22989098 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:25087612 PMID:25132046 PMID:25224063 PMID:25525159 PMID:25665836 PMID:25741868 PMID:25741913 PMID:25741914 PMID:25846890 PMID:25961151 PMID:26075114 PMID:26190315 PMID:26252091 PMID:26350513 PMID:26633542 PMID:26828774 PMID:26990548 PMID:27181684 PMID:27320645 PMID:27581592 PMID:27629047 PMID:27650965 PMID:27896095 PMID:27931018 PMID:28074886 PMID:28492532 PMID:28554332 PMID:28711408 PMID:28753539 PMID:28841266 PMID:28857146 PMID:29132460 PMID:29165669 PMID:29581464 PMID:29750726 PMID:29790872 PMID:30069296 PMID:30523710 PMID:30609409 PMID:30626930 PMID:30838026 PMID:30863740 PMID:30904546 PMID:31187905 PMID:31200524 PMID:31364285 PMID:31737040 PMID:31813139 PMID:31864849 PMID:31980526 PMID:32371215 PMID:32371413 PMID:32778825 PMID:32793418 PMID:32870709 PMID:33083013 PMID:33181153 PMID:33560599 PMID:33757571 PMID:34032155 PMID:34178604 PMID:34249102 PMID:34394177 PMID:34440436 PMID:34637945 PMID:34704412 PMID:34802252 PMID:34863234 PMID:35095998 PMID:35193651 PMID:35281663 PMID:35888728 PMID:36109795 PMID:36321377 PMID:36343260 PMID:36568374 PMID:36636599 PMID:37510298 PMID:37628339 PMID:12408185 More...
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RGD:1580611 |
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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