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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Runx2 and cleidocranial dysplasia in Ictidomys tridecemlineatus.        

  • 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 RUNX2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to cleidocranial dysplasia  (DOID:13994)
  • 0 papers in RGD have been used to annotate Runx2


  • An association has been curated linking Runx2 and cleidocranial dysplasia in Ictidomys tridecemlineatus.        

  • 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 RUNX2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to cleidocranial dysplasia  (DOID:13994)
  • 0 papers in RGD have been used to annotate Runx2
  • Curation Notes: ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial Dysplasia | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly
  • Original References(s): PMID:10521292 PMID:10545612 PMID:10980549 PMID:11321595 PMID:11768584 PMID:11857736 PMID:12081718 PMID:12132307 PMID:12196916 PMID:12424590 PMID:15301373 PMID:15952089 PMID:16199547 PMID:16221346 PMID:19515746 PMID:19767586 PMID:20648631 PMID:20702542 PMID:21734816 PMID:22023169 PMID:23290074 PMID:24138303 PMID:24222232 PMID:24634175 PMID:25741868 PMID:26279653 PMID:26380986 PMID:27993330 PMID:28056872 PMID:28492532 PMID:28505335 PMID:28738062 PMID:29758562 PMID:29891876 PMID:30391578 PMID:31548836 PMID:32360898 PMID:33987976 PMID:9182765 PMID:9207800


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