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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PTH1R and chondrodysplasia Blomstrand type in Chlorocebus sabaeus.        

  • 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 PTH1R (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to chondrodysplasia Blomstrand type  (DOID:0060387)
  • 0 papers in RGD have been used to annotate PTH1R


    • An association has been curated linking PTH1R and chondrodysplasia Blomstrand type in Chlorocebus sabaeus.        

  • 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 PTH1R (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to chondrodysplasia Blomstrand type  (DOID:0060387)
  • 0 papers in RGD have been used to annotate PTH1R
  • Curation Notes: ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
  • Original References(s): PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456


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