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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CUNH17orf107 and congenital myasthenic syndrome 4C in Ictidomys tridecemlineatus.        

  • 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 C17orf107 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to congenital myasthenic syndrome 4C  (DOID:0110679)
  • 0 papers in RGD have been used to annotate CUNH17orf107
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency
  • Original References(s): PMID:10211467 PMID:10496269 PMID:10514102 PMID:10534268 PMID:11030414 PMID:12417530 PMID:14532324 PMID:15322984 PMID:15367858 PMID:16087917 PMID:17576681 PMID:17878953 PMID:19544078 PMID:20301347 PMID:20562457 PMID:21940170 PMID:22678886 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27634344 PMID:28492532 PMID:29054425 PMID:29189923 PMID:29383513 PMID:30124556 PMID:31980526 PMID:8232384 PMID:8755487 PMID:9097970 PMID:9158150 PMID:9536098 PMID:9668239 PMID:9708546


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