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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Rpgrip1l and Joubert 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 RPGRIP1L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Joubert syndrome 7  (DOID:0111002)
  • 11 papers in RGD have been used to annotate Rpgrip1l


    • An association has been curated linking Rpgrip1l and Joubert syndrome 7 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wolf MT, etal., Kidney Int. 2007 Dec;72(12):1520-6. Epub 2007 Oct 24.
  • The annotation has been inferred from sequence orthology with RPGRIP1L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Wolf MT, etal., Kidney Int. 2007 Dec;72(12):1520-6. Epub 2007 Oct 24.
  • 3 RGD objects have been annotated to Joubert syndrome 7  (DOID:0111002)
  • 11 papers in RGD have been used to annotate Rpgrip1l
  • Curation Notes: DNA:missense mutations, splice-site mutation:exon, intron:multiple


    • An association has been curated linking Rpgrip1l and Joubert syndrome 7 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Rpgrip1l (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Joubert syndrome 7  (DOID:0111002)
  • 11 papers in RGD have been used to annotate Rpgrip1l
  • Curation Notes: OMIM:611560


    • An association has been curated linking Rpgrip1l and Joubert 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 RPGRIP1L (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Joubert syndrome 7  (DOID:0111002)
  • 11 papers in RGD have been used to annotate Rpgrip1l
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Rpgrip1l and Joubert 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 RPGRIP1L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Joubert syndrome 7  (DOID:0111002)
  • 11 papers in RGD have been used to annotate Rpgrip1l
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 7
  • Original References(s): PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:20301500 PMID:21866095 PMID:23351400 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 PMID:9536098


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