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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking RPGRIP1L and Meckel syndrome 5 in Sus scrofa.        

  • 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]
  • 1 RGD objects have been annotated to Meckel syndrome 5  (DOID:0070119)
  • 0 papers in RGD have been used to annotate RPGRIP1L


    • An association has been curated linking RPGRIP1L and Meckel syndrome 5 in Sus scrofa.        

  • 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]
  • 1 RGD objects have been annotated to Meckel syndrome 5  (DOID:0070119)
  • 0 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 5
  • Original References(s): PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853


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