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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Fbn1 and Ectopia Lentis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)


    • An association has been curated linking Fbn1 and Ectopia Lentis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ades LC, etal., Am J Med Genet A. 2004 Apr 30;126(3):284-9.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ades LC, etal., Am J Med Genet A. 2004 Apr 30;126(3):284-9.
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: DNA:missense mutation:cds:p.R240C (human)


    • An association has been curated linking Fbn1 and Ectopia Lentis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kainulainen K, etal., Nat Genet 1994 Jan;6(1):64-9.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kainulainen K, etal., Nat Genet 1994 Jan;6(1):64-9.
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1


    • An association has been curated linking Fbn1 and Ectopia Lentis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zhao JH, etal., Ophthalmic Genet. 2013 Mar-Jun;34(1-2):21-6. doi: 10.3109/13816810.2012.718029. Epub 2012 Sep 6.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Zhao JH, etal., Ophthalmic Genet. 2013 Mar-Jun;34(1-2):21-6. doi: 10.3109/13816810.2012.718029. Epub 2012 Sep 6.
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: DNA:missense mutation:exon:p.R62C (c.184C>T) (human)


    • An association has been curated linking Fbn1 and Ectopia Lentis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Li H, etal., Mol Vis. 2012;18:504-11. Epub 2012 Feb 24.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Li H, etal., Mol Vis. 2012;18:504-11. Epub 2012 Feb 24.
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)


    • An association has been curated linking Fbn1 and Ectopia Lentis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sui RF, etal., Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):828-31.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Sui RF, etal., Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):828-31.
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: DNA:missense mutation:exon:p.G214S (G640G>A) (human)


    • An association has been curated linking Fbn1 and Ectopia Lentis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Liang C, etal., Mol Vis. 2011;17:3481-5. Epub 2011 Dec 29.
  • The annotation has been inferred from sequence orthology with FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Liang C, etal., Mol Vis. 2011;17:3481-5. Epub 2011 Dec 29.
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)


    • An association has been curated linking Fbn1 and Ectopia Lentis 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 FBN1 (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:22772368


    • An association has been curated linking Fbn1 and Ectopia Lentis 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Ectopia Lentis  (DOID:9004201)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Ectopia lentis
  • Original References(s): PMID:10533071 PMID:10633129 PMID:10874320 PMID:11700157 PMID:11992479 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:26787436 PMID:26875674 PMID:27906200 PMID:27959697 PMID:28492532 PMID:29357934 PMID:29543232 PMID:30796334 PMID:31098894 PMID:31211626 PMID:31227806 PMID:32123317 PMID:37684520 PMID:7611299 PMID:7870075 PMID:8653794 PMID:8723076 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9536098 PMID:9837823


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