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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Chrne and congenital myasthenic syndrome 4A 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 CHRNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to congenital myasthenic syndrome 4A  (DOID:0110678)
  • 12 papers in RGD have been used to annotate Chrne


    • An association has been curated linking Chrne and congenital myasthenic syndrome 4A 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 CHRNE (Homo sapiens) [(EXP) inferred from experiment]
  • 12 RGD objects have been annotated to congenital myasthenic syndrome 4A  (DOID:0110678)
  • 12 papers in RGD have been used to annotate Chrne
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Chrne and congenital myasthenic syndrome 4A 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 CHRNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to congenital myasthenic syndrome 4A  (DOID:0110678)
  • 12 papers in RGD have been used to annotate Chrne
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
  • Original References(s): PMID:10211467 PMID:10382905 PMID:10496269 PMID:10514102 PMID:10534268 PMID:10962020 PMID:11030414 PMID:11408331 PMID:11960891 PMID:12034803 PMID:12141316 PMID:12356851 PMID:12417530 PMID:12453093 PMID:12536367 PMID:14532324 PMID:14592868 PMID:15145336 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16061559 PMID:16087917 PMID:16198106 PMID:16199547 PMID:16550914 PMID:17576681 PMID:17878953 PMID:18414213 PMID:19064877 PMID:19153382 PMID:19289485 PMID:19544078 PMID:20157724 PMID:20301347 PMID:20562457 PMID:21150643 PMID:21175599 PMID:21520333 PMID:21822932 PMID:21940170 PMID:22178625 PMID:22382357 PMID:22678886 PMID:22865819 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26284228 PMID:26467025 PMID:27634344 PMID:27717316 PMID:27779167 PMID:28024842 PMID:28464723 PMID:28492532 PMID:28690392 PMID:29054425 PMID:29189923 PMID:29367459 PMID:29383513 PMID:29395675 PMID:29702980 PMID:30124556 PMID:30542963 PMID:30792901 PMID:30898524 PMID:30931400 PMID:31589614 PMID:31773638 PMID:31980526 PMID:32721234 PMID:32727330 PMID:33756069 PMID:35628876 PMID:36099689 PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 PMID:8663316 PMID:8755487 PMID:8872460 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9536098 PMID:9539130 PMID:9606190 PMID:9668239 PMID:9708546


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