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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Ftl1 and hyperferritinemia-cataract syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Girelli D, etal., Blood. 1997 Sep 1;90(5):2084-8.
  • The annotation has been inferred from sequence orthology with FTL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Girelli D, etal., Blood. 1997 Sep 1;90(5):2084-8.
  • 2 RGD objects have been annotated to hyperferritinemia-cataract syndrome  (DOID:0111256)
  • 20 papers in RGD have been used to annotate Ftl1
  • Curation Notes: DNA:deletion:5' utr: (human)


    • An association has been curated linking Ftl1 and hyperferritinemia-cataract syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Nonnenmacher L, etal., Klin Padiatr. 2011 Oct 21.
  • The annotation has been inferred from sequence orthology with FTL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Nonnenmacher L, etal., Klin Padiatr. 2011 Oct 21.
  • 2 RGD objects have been annotated to hyperferritinemia-cataract syndrome  (DOID:0111256)
  • 20 papers in RGD have been used to annotate Ftl1
  • Curation Notes: DNA:mutations:5'utr:


    • An association has been curated linking Ftl1 and hyperferritinemia-cataract 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 FTL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hyperferritinemia-cataract syndrome  (DOID:0111256)
  • 20 papers in RGD have been used to annotate Ftl1


    • An association has been curated linking Ftl1 and hyperferritinemia-cataract 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 FTL (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to hyperferritinemia-cataract syndrome  (DOID:0111256)
  • 20 papers in RGD have been used to annotate Ftl1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Ftl1 and hyperferritinemia-cataract 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 FTL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hyperferritinemia-cataract syndrome  (DOID:0111256)
  • 20 papers in RGD have been used to annotate Ftl1
  • Curation Notes: ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
  • Original References(s): PMID:10366790 PMID:10366804 PMID:10383191 PMID:10759702 PMID:11438811 PMID:11703332 PMID:11849230 PMID:12199804 PMID:12200611 PMID:12670350 PMID:12730114 PMID:12746423 PMID:14662596 PMID:15173247 PMID:16395671 PMID:16518306 PMID:16900584 PMID:17182944 PMID:17576681 PMID:18414213 PMID:18710380 PMID:18854324 PMID:19176363 PMID:19800271 PMID:21541272 PMID:21907119 PMID:22881709 PMID:23300176 PMID:2336358 PMID:23421845 PMID:23592921 PMID:24766965 PMID:25741868 PMID:25832658 PMID:26633542 PMID:26849797 PMID:27096259 PMID:28492532 PMID:28746593 PMID:29269865 PMID:30401656 PMID:30678075 PMID:31414986 PMID:32241646 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 PMID:8781450 PMID:9226182 PMID:9292547 PMID:9414300 PMID:9414313 PMID:9536098


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