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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tuchman M, etal., Hum Mutat. 2002 Feb;19(2):93-107.
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Tuchman M, etal., Hum Mutat. 2002 Feb;19(2):93-107.
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: DNA:missense mutations:multiple (human)


    • An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Saheki T, etal., Biochim Biophys Acta. 1995 Jan 25;1270(1):87-93.
  • 2 additional annotations were made from Saheki T, etal., Biochim Biophys Acta. 1995 Jan 25;1270(1):87-93.
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc


    • An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Oppliger Leibundgut EO, etal., Hum Mutat. 1996;8(4):333-9.
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Oppliger Leibundgut EO, etal., Hum Mutat. 1996;8(4):333-9.
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: DNA:missense mutations:multiple (human)


    • An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hodges PE and Rosenberg LE, Proc Natl Acad Sci U S A. 1989 Jun;86(11):4142-6.
  • The annotation has been inferred from sequence orthology with Otc (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hodges PE and Rosenberg LE, Proc Natl Acad Sci U S A. 1989 Jun;86(11):4142-6.
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: DNA:missense mutation:exon:EX4p.R129H (mouse)


    • An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc


    • An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(EXP) inferred from experiment]
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: CTD Direct Evidence: marker/mechanism|therapeutic
  • Original References(s): PMID:8778603 PMID:16677864 PMID:19669271


    • An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(EXP) inferred from experiment]
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Otc (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: OMIM:311250


    • An association has been curated linking Otc and ornithine carbamoyltransferase deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to ornithine carbamoyltransferase deficiency  (DOID:9271)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency
  • Original References(s): 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:1353535 PMID:1480464 PMID:14976564 PMID:15060014 PMID:15174800 PMID:16055928 PMID:16199547 PMID:1627356 PMID:16635166 PMID:1671317 PMID:16786505 PMID:16969763 PMID:17041896 PMID:17044854 PMID:1721894 PMID:17334707 PMID:17565723 PMID:17576681 PMID:1757964 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:2035531 PMID:2037279 PMID:20406775 PMID:20458665 PMID:20817516 PMID:21070677 PMID:21488237 PMID:21956151 PMID:2208768 PMID:22099885 PMID:22340867 PMID:22382802 PMID:2246687 PMID:22494545 PMID:22727265 PMID:23209112 PMID:23278509 PMID:2347583 PMID:23551631 PMID:23568734 PMID:23769969 PMID:24006547 PMID:24010702 PMID:24033266 PMID:24055113 PMID:24199608 PMID:24449986 PMID:2474822 PMID:25011434 PMID:25026867 PMID:25297582 PMID:25425289 PMID:25433810 PMID:2556444 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:2741942 PMID:27489649 PMID:27738433 PMID:28107167 PMID:28261508 PMID:28266016 PMID:28324312 PMID:2836378 PMID:2843770 PMID:28492532 PMID:28815739 PMID:28887792 PMID:29123827 PMID:29282796 PMID:29581464 PMID:30175132 PMID:30285816 PMID:30626930 PMID:31130284 PMID:31426867 PMID:3170748 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:35949797 PMID:36303552 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: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


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