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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • 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 CTNS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Rupar CA, etal., J Med Genet. 2001 Sep;38(9):615-6.
  • The annotation has been inferred from sequence orthology with CTNS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rupar CA, etal., J Med Genet. 2001 Sep;38(9):615-6.
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns
  • Curation Notes: DNA:missense mutation:cds:p.G339R (human)


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Town M, etal., Nat Genet. 1998 Apr;18(4):319-24.
  • The annotation has been inferred from sequence orthology with CTNS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Town M, etal., Nat Genet. 1998 Apr;18(4):319-24.
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns
  • Qualifier: susceptibility
  • Curation Notes: DNA:mutations:multiple (human)


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns
  • Curation Notes: OMIM:219750 | OMIM:219800 | OMIM:219900


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Anikster Y, etal., Mol Genet Metab. 1999 Feb;66(2):111-6.
  • The annotation has been inferred from sequence orthology with CTNS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Anikster Y, etal., Mol Genet Metab. 1999 Feb;66(2):111-6.
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns
  • Curation Notes: DNA:deletion:exons, introns (human)


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • 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 CTNS (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15879904


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Cherqui S, etal., Mol Cell Biol. 2002 Nov;22(21):7622-32.
  • 2 additional annotations were made from Cherqui S, etal., Mol Cell Biol. 2002 Nov;22(21):7622-32.
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Shotelersuk V, etal., Am J Hum Genet. 1998 Nov;63(5):1352-62.
  • The annotation has been inferred from sequence orthology with CTNS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Shotelersuk V, etal., Am J Hum Genet. 1998 Nov;63(5):1352-62.
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns
  • Curation Notes: DNA:mutations:multiple (human)


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Hippert C, etal., Mol Ther. 2008 Aug;16(8):1372-81. doi: 10.1038/mt.2008.126. Epub 2008 Jun 24.
  • The annotation has been inferred from sequence orthology with CTNS (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Hippert C, etal., Mol Ther. 2008 Aug;16(8):1372-81. doi: 10.1038/mt.2008.126. Epub 2008 Jun 24.
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns
  • Qualifier: treatment
  • Curation Notes: human gene in a mouse model


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Hollywood JA, etal., Am J Physiol Renal Physiol. 2022 Aug 1;323(2):F156-F170. doi: 10.1152/ajprenal.00277.2021. Epub 2022 Jun 13.
  • The annotation has been inferred from sequence orthology with Ctns (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 39 additional annotations were made from Hollywood JA, etal., Am J Physiol Renal Physiol. 2022 Aug 1;323(2):F156-F170. doi: 10.1152/ajprenal.00277.2021. Epub 2022 Jun 13.
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns


  • An association has been curated linking Ctns and cystinosis in Mus musculus.        

  • 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 CTNS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 19 papers in RGD have been used to annotate Ctns
  • Curation Notes: ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis
  • Original References(s): PMID:10068513 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12644911 PMID:12825071 PMID:15128704 PMID:15365816 PMID:16199547 PMID:17576681 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19580442 PMID:19852576 PMID:19863563 PMID:20061170 PMID:20301574 PMID:21305353 PMID:21546516 PMID:21786142 PMID:21963264 PMID:22232659 PMID:22450360 PMID:22528245 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24385851 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26489029 PMID:26565940 PMID:27102039 PMID:27451386 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28122645 PMID:28238446 PMID:28276207 PMID:28405942 PMID:28465352 PMID:28492532 PMID:28629674 PMID:28649545 PMID:28793998 PMID:28893421 PMID:28983406 PMID:29127259 PMID:29421779 PMID:29467429 PMID:30214781 PMID:30554218 PMID:30609409 PMID:30949462 PMID:30957593 PMID:31074291 PMID:31672123 PMID:33532864 PMID:33661986 PMID:33822926 PMID:35513889 PMID:35571017 PMID:35738466 PMID:9536098 PMID:9537412 PMID:9792862


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