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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Chat and congenital myasthenic syndrome 6 in Chinchilla lanigera.        

  • 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 CHAT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to congenital myasthenic syndrome 6  (DOID:0110671)
  • 3 papers in RGD have been used to annotate Chat


    • An association has been curated linking Chat and congenital myasthenic syndrome 6 in Chinchilla lanigera.        

  • 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 CHAT (Homo sapiens)
  • 3 RGD objects have been annotated to congenital myasthenic syndrome 6  (DOID:0110671)
  • 3 papers in RGD have been used to annotate Chat
  • Qualifier: susceptibility
  • Curation Notes: DNA:frameshift mutation, missense mutations
  • Original References(s): PMID:11172068 REF_RGD_ID:1600831


    • An association has been curated linking Chat and congenital myasthenic syndrome 6 in Chinchilla lanigera.        

  • 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 CHAT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to congenital myasthenic syndrome 6  (DOID:0110671)
  • 3 papers in RGD have been used to annotate Chat
  • Curation Notes: ClinVar Annotator: match by term: Familial infantile myasthenia
  • Original References(s): PMID:11172068 PMID:12548525 PMID:12609506 PMID:12756141 PMID:15381704 PMID:15701560 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19520274 PMID:19900826 PMID:21786365 PMID:21948486 PMID:22678886 PMID:23292760 PMID:24033266 PMID:25741868 PMID:25741895 PMID:26080897 PMID:26467025 PMID:26789281 PMID:28492532 PMID:28497657 PMID:28991257 PMID:29054425 PMID:29189923 PMID:32368696 PMID:33820833 PMID:34740919 PMID:9073174 PMID:9536098


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