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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 49 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 Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13521880 (Homo sapiens)
  • 49 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: Chromosome 17, trisomy 17p11 2
  • Original References(s): PMID:28837307


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:25324377 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:12914141 (Homo sapiens)
  • 49 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
  • Original References(s): PMID:25741868


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13619226 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11617233 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11346717 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:25741868 PMID:27153395 PMID:28492532


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:26897195 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:28894364 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:25741868


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:12890481 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:12887610 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532 PMID:33137092


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8557374 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:12204536 PMID:12471204 PMID:15852235 PMID:18234728 PMID:19562744 PMID:20301695 PMID:25326637 PMID:25519458 PMID:25741868 PMID:25827758 PMID:26467025 PMID:26659639 PMID:27734835 PMID:28492532 PMID:28839995 PMID:34229741


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13474964 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:21538689 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32091409 PMID:33137092 PMID:35441217


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8557373 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:12204536 PMID:12471204 PMID:15852235 PMID:17496196 PMID:18234728 PMID:18505456 PMID:19562744 PMID:20301695 PMID:20522427 PMID:21538689 PMID:23757202 PMID:23784378 PMID:25741868 PMID:26028485 PMID:26402642 PMID:26467025 PMID:27220747 PMID:27734835 PMID:27905298 PMID:28492532 PMID:29357828 PMID:29548312 PMID:30360018 PMID:31471370 PMID:31958439 PMID:33137092 PMID:33294559 PMID:34008892 PMID:35221599 PMID:35578266 PMID:35946080


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8697335 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:19116017 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8643392 (Homo sapiens)
  • 49 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 (dup(17)(p11.2p11.2))
  • Original References(s): PMID:15852235 PMID:16199547 PMID:18234728 PMID:19562744 PMID:25610687 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31958439 PMID:34654685 PMID:35639097


  • An association has been curated linking FLCN and Potocki-Lupski syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:12886807 (Homo sapiens)
  • 49 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
  • Original References(s): PMID:25741868 PMID:28492532 PMID:34326862


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