Send us a Message



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

GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Sox17 and Pulmonary Arterial Hypertension in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Gräf S, etal., Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.
  • The annotation has been inferred from sequence orthology with SOX17 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Gräf S, etal., Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.
  • 106 RGD objects have been annotated to Pulmonary Arterial Hypertension  (DOID:9001820)
  • 27 papers in RGD have been used to annotate Sox17
  • Qualifier: onset
  • Curation Notes: DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human)


  • An association has been curated linking Sox17 and Pulmonary Arterial Hypertension in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Sangam S, etal., Am J Respir Crit Care Med. 2023 Apr 15;207(8):1055-1069. doi: 10.1164/rccm.202203-0450OC.
  • The annotation has been inferred from sequence orthology with SOX17 (Homo sapiens) [(IEP) inferred from expression pattern]
  • 12 additional annotations were made from Sangam S, etal., Am J Respir Crit Care Med. 2023 Apr 15;207(8):1055-1069. doi: 10.1164/rccm.202203-0450OC.
  • 106 RGD objects have been annotated to Pulmonary Arterial Hypertension  (DOID:9001820)
  • 27 papers in RGD have been used to annotate Sox17
  • Curation Notes: protein:decreased expression:lung endothelium (human)


  • An association has been curated linking Sox17 and Pulmonary Arterial Hypertension in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Wang TM, etal., Int Heart J. 2021 May 29;62(3):566-574. doi: 10.1536/ihj.20-711. Epub 2021 May 1.
  • The annotation has been inferred from sequence orthology with SOX17 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Wang TM, etal., Int Heart J. 2021 May 29;62(3):566-574. doi: 10.1536/ihj.20-711. Epub 2021 May 1.
  • 106 RGD objects have been annotated to Pulmonary Arterial Hypertension  (DOID:9001820)
  • 27 papers in RGD have been used to annotate Sox17
  • Curation Notes: DNA:nonsense mutation:CDS:p.Q127* (human)


  • An association has been curated linking Sox17 and Pulmonary Arterial Hypertension in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zhu N, etal., Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x.
  • The annotation has been inferred from sequence orthology with SOX17 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Zhu N, etal., Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x.
  • 106 RGD objects have been annotated to Pulmonary Arterial Hypertension  (DOID:9001820)
  • 27 papers in RGD have been used to annotate Sox17
  • Curation Notes: associated with congenital heart disease;DNA:mutations:multiple (human)


  • An association has been curated linking Sox17 and Pulmonary Arterial Hypertension in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Gu S, etal., Lancet Respir Med. 2019 Mar;7(3):190-191. doi: 10.1016/S2213-2600(18)30448-X. Epub 2018 Dec 5.
  • The annotation has been inferred from sequence orthology with SOX17 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gu S, etal., Lancet Respir Med. 2019 Mar;7(3):190-191. doi: 10.1016/S2213-2600(18)30448-X. Epub 2018 Dec 5.
  • 106 RGD objects have been annotated to Pulmonary Arterial Hypertension  (DOID:9001820)
  • 27 papers in RGD have been used to annotate Sox17
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNPs:enhancers: (rs10103692, rs13266183) (human)


  • An association has been curated linking Sox17 and Pulmonary Arterial Hypertension 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 SOX17 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 106 RGD objects have been annotated to Pulmonary Arterial Hypertension  (DOID:9001820)
  • 27 papers in RGD have been used to annotate Sox17
  • Curation Notes: ClinVar Annotator: match by term: Pulmonary arterial hypertension


  • Go Back to source page   Continue to Ontology report