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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Scn4a and congenital myasthenic syndrome 16 in Ictidomys tridecemlineatus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 16  (DOID:0110682)
  • 0 papers in RGD have been used to annotate Scn4a


    • An association has been curated linking Scn4a and congenital myasthenic syndrome 16 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 16  (DOID:0110682)
  • 0 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 | ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive
  • Original References(s): PMID:10206477 PMID:10218481 PMID:10366610 PMID:10944223 PMID:11309455 PMID:11558801 PMID:11723275 PMID:11744749 PMID:11912116 PMID:12562902 PMID:12766226 PMID:12872329 PMID:12898257 PMID:12933953 PMID:1310898 PMID:1316765 PMID:1338909 PMID:14504341 PMID:14518676 PMID:14617673 PMID:15482957 PMID:15534250 PMID:15583983 PMID:15596759 PMID:15642860 PMID:15774523 PMID:15790667 PMID:1659948 PMID:16870577 PMID:17330043 PMID:17334961 PMID:17395131 PMID:17576681 PMID:17591984 PMID:18046642 PMID:18166706 PMID:18337100 PMID:18337730 PMID:18414213 PMID:18824591 PMID:19052238 PMID:19065518 PMID:19077043 PMID:19118277 PMID:1918277 PMID:19201608 PMID:19225109 PMID:19770477 PMID:19840739 PMID:20076800 PMID:20445432 PMID:20522878 PMID:20660662 PMID:20681998 PMID:20981092 PMID:21189962 PMID:21220685 PMID:2173143 PMID:21841462 PMID:22253644 PMID:22253645 PMID:22507243 PMID:22653516 PMID:22926674 PMID:23019082 PMID:23473731 PMID:23516313 PMID:23589580 PMID:23771340 PMID:23810313 PMID:23884711 PMID:24682880 PMID:25024265 PMID:25213595 PMID:25326635 PMID:25483584 PMID:25707578 PMID:25724373 PMID:25741868 PMID:25741909 PMID:25839108 PMID:26220970 PMID:26252573 PMID:26256659 PMID:26423924 PMID:26427606 PMID:26467025 PMID:26659129 PMID:26700687 PMID:26834636 PMID:27199537 PMID:27415035 PMID:27714768 PMID:27858759 PMID:28325641 PMID:28330959 PMID:28492532 PMID:28662944 PMID:28779239 PMID:29419865 PMID:29605429 PMID:29606556 PMID:29790872 PMID:29991727 PMID:30038349 PMID:30172468 PMID:30390395 PMID:30611854 PMID:30647473 PMID:30931713 PMID:31567646 PMID:31772215 PMID:32026975 PMID:32276507 PMID:32528171 PMID:32533946 PMID:32670189 PMID:32801145 PMID:32849172 PMID:33146414 PMID:33325393 PMID:34008892 PMID:34418069 PMID:35037686 PMID:7676326 PMID:7695243 PMID:7809121 PMID:8005599 PMID:8044656 PMID:8110459 PMID:8388676 PMID:8583225 PMID:8740371 PMID:8910215 PMID:9130156 PMID:9266738 PMID:9392583 PMID:9536098 PMID:9886942


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