Send us a Message



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

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Chst14 and Ehlers-Danlos syndrome musculocontractural type 1 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 CHST14 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ehlers-Danlos syndrome musculocontractural type 1  (DOID:0080736)
  • 5 papers in RGD have been used to annotate Chst14


  • An association has been curated linking Chst14 and Ehlers-Danlos syndrome musculocontractural type 1 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 CHST14 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Ehlers-Danlos syndrome musculocontractural type 1  (DOID:0080736)
  • 5 papers in RGD have been used to annotate Chst14
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20004762 PMID:20842734


  • An association has been curated linking Chst14 and Ehlers-Danlos syndrome musculocontractural type 1 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 CHST14 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ehlers-Danlos syndrome musculocontractural type 1  (DOID:0080736)
  • 5 papers in RGD have been used to annotate Chst14
  • Curation Notes: ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1
  • Original References(s): PMID:10766984 PMID:11370633 PMID:1184396 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:22581468 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28306225 PMID:28346368 PMID:28492532 PMID:31905796 PMID:32629534 PMID:9084938


  • Go Back to source page   Continue to Ontology report