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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Flcn and Potocki-Lupski syndrome 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 FLCN (Homo sapiens) [(EXP) inferred from experiment]
  • 42 RGD objects have been annotated to Potocki-Lupski syndrome  (DOID:0060853)
  • 9 papers in RGD have been used to annotate Flcn
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Flcn and Potocki-Lupski syndrome 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 FLCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Potocki-Lupski syndrome  (DOID:0060853)
  • 9 papers in RGD have been used to annotate Flcn
  • Curation Notes: ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2))
  • Original References(s): PMID:12204536 PMID:12471204 PMID:15852235 PMID:16199547 PMID:17496196 PMID:18234728 PMID:18505456 PMID:19116017 PMID:19562744 PMID:20301695 PMID:20522427 PMID:21538689 PMID:23757202 PMID:23784378 PMID:24728327 PMID:25326637 PMID:25519458 PMID:25610687 PMID:25741868 PMID:25827758 PMID:26028485 PMID:26402642 PMID:26467025 PMID:26659639 PMID:27153395 PMID:27220747 PMID:27734835 PMID:27905298 PMID:28492532 PMID:28837307 PMID:28839995 PMID:29357828 PMID:29548312 PMID:30360018 PMID:31471370 PMID:31958439 PMID:32091409 PMID:33137092 PMID:33294559 PMID:34008892 PMID:34229741 PMID:34326862 PMID:34654685 PMID:35221599 PMID:35441217 PMID:35578266 PMID:35639097 PMID:35946080


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