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 CREBBP and Rubinstein-Taybi syndrome 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 CREBBP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 56 RGD objects have been annotated to Rubinstein-Taybi syndrome  (DOID:1933)
  • 0 papers in RGD have been used to annotate CREBBP


  • An association has been curated linking CREBBP and Rubinstein-Taybi syndrome 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 CREBBP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 56 RGD objects have been annotated to Rubinstein-Taybi syndrome  (DOID:1933)
  • 0 papers in RGD have been used to annotate CREBBP
  • Curation Notes: ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
  • Original References(s): PMID:11331617 PMID:12070251 PMID:12114483 PMID:12566391 PMID:14974086 PMID:15706485 PMID:16021471 PMID:16199547 PMID:16359492 PMID:16980541 PMID:17052327 PMID:17576681 PMID:17855048 PMID:17942008 PMID:18414213 PMID:18688873 PMID:18792986 PMID:19833603 PMID:19852432 PMID:20358623 PMID:20583168 PMID:20684013 PMID:20689175 PMID:21302340 PMID:21390126 PMID:21680795 PMID:21796119 PMID:21932317 PMID:21984751 PMID:22307725 PMID:22591219 PMID:22664659 PMID:22832583 PMID:23063576 PMID:23334668 PMID:23685749 PMID:23778141 PMID:24088041 PMID:24728327 PMID:25108505 PMID:25388907 PMID:25599811 PMID:25640679 PMID:25741868 PMID:25741869 PMID:25805166 PMID:26087898 PMID:26486927 PMID:26580448 PMID:26619011 PMID:26633545 PMID:26788536 PMID:26956253 PMID:27257017 PMID:27257180 PMID:27311832 PMID:27899157 PMID:28492532 PMID:28523540 PMID:28600779 PMID:28970362 PMID:29132461 PMID:29460469 PMID:29551561 PMID:30587507 PMID:30755392 PMID:31566936 PMID:31637876 PMID:31981491 PMID:32170002 PMID:32386048 PMID:32594341 PMID:32827181 PMID:33502061 PMID:33560380 PMID:33747050 PMID:7630403 PMID:8967953 PMID:9536098


  • An association has been curated linking CREBBP and Rubinstein-Taybi syndrome 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 CREBBP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 56 RGD objects have been annotated to Rubinstein-Taybi syndrome  (DOID:1933)
  • 0 papers in RGD have been used to annotate CREBBP
  • Curation Notes: ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
  • Original References(s): PMID:11331617 PMID:12070251 PMID:12114483 PMID:12566391 PMID:14974086 PMID:15706485 PMID:16021471 PMID:16199547 PMID:16359492 PMID:16980541 PMID:17052327 PMID:17855048 PMID:18414213 PMID:18792986 PMID:20583168 PMID:20684013 PMID:21390126 PMID:21680795 PMID:21796119 PMID:22591219 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:24088041 PMID:24728327 PMID:25388907 PMID:25599811 PMID:25640679 PMID:25741868 PMID:25741869 PMID:25805166 PMID:26087898 PMID:26486927 PMID:26619011 PMID:26633545 PMID:27257017 PMID:27257180 PMID:27311832 PMID:28492532 PMID:28523540 PMID:28707430 PMID:28970362 PMID:29460469 PMID:29551561 PMID:32170002 PMID:32827181 PMID:33560380 PMID:7630403 PMID:8967953


  • Go Back to source page   Continue to Ontology report