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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mlc1 and megalencephalic leukoencephalopathy with subcortical cysts in Rattus norvegicus.        

  • 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 MLC1 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to megalencephalic leukoencephalopathy with subcortical cysts  (DOID:0080315)
  • 7 papers in RGD have been used to annotate Mlc1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11254442


    • An association has been curated linking Mlc1 and megalencephalic leukoencephalopathy with subcortical cysts in Rattus norvegicus.        

  • 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 MLC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to megalencephalic leukoencephalopathy with subcortical cysts  (DOID:0080315)
  • 7 papers in RGD have been used to annotate Mlc1
  • Curation Notes: ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
  • Original References(s): PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 PMID:12939431 PMID:14572144 PMID:14615938 PMID:15037685 PMID:15367490 PMID:15832614 PMID:15992519 PMID:16199547 PMID:16470554 PMID:16504440 PMID:16652334 PMID:17077634 PMID:18757878 PMID:19168821 PMID:21145992 PMID:21160490 PMID:21555057 PMID:21624973 PMID:22006981 PMID:22382567 PMID:22405205 PMID:22416245 PMID:22737209 PMID:22975760 PMID:23793458 PMID:24315536 PMID:24824219 PMID:25333069 PMID:25497041 PMID:25634434 PMID:25741868 PMID:25796299 PMID:26392452 PMID:27081509 PMID:27264811 PMID:27322623 PMID:28492532 PMID:29758562 PMID:31302377 PMID:32056211 PMID:33084218 PMID:34504271


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