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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Amt and glycine encephalopathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kure S, etal., J Hum Genet. 1998;43(2):135-7.
  • The annotation has been inferred from sequence orthology with AMT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kure S, etal., J Hum Genet. 1998;43(2):135-7.
  • 36 RGD objects have been annotated to glycine encephalopathy  (DOID:9268)
  • 9 papers in RGD have been used to annotate Amt
  • Curation Notes: DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human)


    • An association has been curated linking Amt and glycine encephalopathy 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 AMT (Homo sapiens) [(EXP) inferred from experiment]
  • 36 RGD objects have been annotated to glycine encephalopathy  (DOID:9268)
  • 9 papers in RGD have been used to annotate Amt
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:16450403


    • An association has been curated linking Amt and glycine encephalopathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kure S, etal., Hum Genet. 1998 Apr;102(4):430-4.
  • The annotation has been inferred from sequence orthology with AMT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kure S, etal., Hum Genet. 1998 Apr;102(4):430-4.
  • 36 RGD objects have been annotated to glycine encephalopathy  (DOID:9268)
  • 9 papers in RGD have been used to annotate Amt
  • Curation Notes: DNA:missense mutation:exon:p.H42R(human)


    • An association has been curated linking Amt and glycine encephalopathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with AMT (Homo sapiens)
  • 36 RGD objects have been annotated to glycine encephalopathy  (DOID:9268)
  • 9 papers in RGD have been used to annotate Amt
  • Qualifier: susceptibility
  • Original References(s): PMID:8005589 REF_RGD_ID:1599106


    • An association has been curated linking Amt and glycine encephalopathy 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 AMT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 36 RGD objects have been annotated to glycine encephalopathy  (DOID:9268)
  • 9 papers in RGD have been used to annotate Amt
  • Curation Notes: ClinVar Annotator: match by term: Non-ketotic hyperglycinemia
  • Original References(s): PMID:10873393 PMID:11139253 PMID:11286506 PMID:12948742 PMID:15272469 PMID:16051266 PMID:16199547 PMID:16450403 PMID:17576681 PMID:19299230 PMID:20301531 PMID:20949620 PMID:21520333 PMID:22171071 PMID:22261077 PMID:22532538 PMID:23352163 PMID:24033266 PMID:25231368 PMID:25640679 PMID:25741868 PMID:26179960 PMID:26371980 PMID:26467025 PMID:27164344 PMID:27362913 PMID:27620832 PMID:27884173 PMID:28244183 PMID:28462797 PMID:28492532 PMID:29300369 PMID:30105116 PMID:31319225 PMID:33726816 PMID:4434100 PMID:6179960 PMID:8005589 PMID:9536098 PMID:9580775 PMID:9600239 PMID:9621520


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