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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Fbn2 and distal arthrogryposis type 7 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 FBN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to distal arthrogryposis type 7  (DOID:0111603)
  • 12 papers in RGD have been used to annotate Fbn2
  • Curation Notes: ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome
  • Original References(s): PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28166811 PMID:28492532 PMID:29926239 PMID:34008892 PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098


    • An association has been curated linking Fbn2 and distal arthrogryposis type 7 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 FBN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to distal arthrogryposis type 7  (DOID:0111603)
  • 12 papers in RGD have been used to annotate Fbn2
  • Curation Notes: ClinVar Annotator: match by term: Beals-Hecht syndrome
  • Original References(s): PMID:11754102 PMID:16199547 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:28492532 PMID:28831199 PMID:29907982 PMID:29910053 PMID:29926239 PMID:30675029 PMID:31096651 PMID:31316167 PMID:33435129 PMID:34008892 PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098


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