Send us a Message



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

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn2a and asphyxiating thoracic dystrophy 1 in Mus musculus.        

  • 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 SCN2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 19 RGD objects have been annotated to asphyxiating thoracic dystrophy 1  (DOID:0110085)
  • 5 papers in RGD have been used to annotate Scn2a
  • Curation Notes: ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome
  • Original References(s): PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549


  • Go Back to source page   Continue to Ontology report