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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Cntnap1 and Lethal Congenital Contracture Syndrome 7 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 CNTNAP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Lethal Congenital Contracture Syndrome 7  (DOID:9000854)
  • 13 papers in RGD have been used to annotate Cntnap1


    • An association has been curated linking Cntnap1 and Lethal Congenital Contracture Syndrome 7 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 CNTNAP1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Lethal Congenital Contracture Syndrome 7  (DOID:9000854)
  • 13 papers in RGD have been used to annotate Cntnap1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Cntnap1 and Lethal Congenital Contracture Syndrome 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 CNTNAP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Lethal Congenital Contracture Syndrome 7  (DOID:9000854)
  • 13 papers in RGD have been used to annotate Cntnap1
  • Curation Notes: ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7
  • Original References(s): PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 PMID:28374019 PMID:28492532 PMID:29882456 PMID:30686628 PMID:30919572 PMID:31395954 PMID:31397905 PMID:32328110 PMID:34645488 PMID:34930662


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