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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus 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 FOXL2 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 9 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 Mus musculus.        

  • 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.
  • 4 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 9 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 Mus musculus.        

  • 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]
  • 4 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 9 papers in RGD have been used to annotate Foxl2


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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 4 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 9 papers in RGD have been used to annotate Foxl2
  • Curation Notes: OMIM:110100


    • An association has been curated linking Foxl2 and blepharophimosis, ptosis, and epicanthus inversus 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 FOXL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to blepharophimosis, ptosis, and epicanthus inversus syndrome  (DOID:14778)
  • 9 papers in RGD have been used to annotate Foxl2
  • Curation Notes: ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
  • Original References(s): PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33796131


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


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