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GENE - TERM ANNOTATION REPORT

14 Annotations Found.

An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:16283882


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Crisponi L, etal., Nat Genet. 2001 Feb;27(2):159-66.
  • The annotation has been inferred from sequence orthology with FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Crisponi L, etal., Nat Genet. 2001 Feb;27(2):159-66.
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: DNA:mutations:multiple (human)


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome in Rattus norvegicus.        

  • 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by OMIM:110100


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by OMIM:110100
  • Original References(s): PMID:12938087


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by OMIM:110100
  • Original References(s): PMID:11175783


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
  • Original References(s): PMID:25741868


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
  • Original References(s): PMID:12161610, PMID:19429596, PMID:30311386


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: BPES with Duane retraction syndrome
  • Original References(s): PMID:11175783, PMID:12400065, PMID:12630957, PMID:16283882, PMID:25741868


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: BPES without ovarian failure
  • Original References(s): PMID:11468277, PMID:25741868


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: BPES with ovarian failure
  • Original References(s): PMID:11468277, PMID:12529855, PMID:25741868


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: BPES without ovarian failure
  • Original References(s): PMID:11776388, PMID:12938087, PMID:25741868


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: BPES with ovarian failure
  • Original References(s): PMID:11175783, PMID:11776388, PMID:12938087, PMID:25741868


  • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus syndrome 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 8 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
  • Original References(s): PMID:12149404


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.