Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CHST3 and spondyloepiphyseal dysplasia with congenital joint dislocations in Pan paniscus.        

  • 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 CHST3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloepiphyseal dysplasia with congenital joint dislocations  (DOID:0050813)
  • 0 papers in RGD have been used to annotate CHST3


  • An association has been curated linking CHST3 and spondyloepiphyseal dysplasia with congenital joint dislocations in Pan paniscus.        

  • 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 CHST3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloepiphyseal dysplasia with congenital joint dislocations  (DOID:0050813)
  • 0 papers in RGD have been used to annotate CHST3
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations
  • Original References(s): PMID:112567 PMID:15098240 PMID:15215498 PMID:15368507 PMID:18513679 PMID:18698629 PMID:19320654 PMID:20830804 PMID:23918704 PMID:24300290 PMID:25741868 PMID:26402641 PMID:26572954 PMID:27753269 PMID:28492532 PMID:29453417 PMID:29620724 PMID:30200136 PMID:32639237 PMID:35583673 PMID:9039660


  • Go Back to source page   Continue to Ontology report