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

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pdzd4 and Neonatal Severe Encephalopathy due to Mecp2 Mutations 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 PDZD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to Neonatal Severe Encephalopathy due to Mecp2 Mutations  (DOID:9006413)
  • 3 papers in RGD have been used to annotate Pdzd4
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations
  • Original References(s): PMID:15351775, PMID:15689435, PMID:16080119, PMID:17088400, PMID:17172942, PMID:22578097, PMID:23220634, PMID:26930212, PMID:28492532

  • This annotation was curated on 2020-03-17 06:08:52.0 by RGD . For more information contact us

    Go Back to source page   Continue to Ontology report



    NHLBI Logo

    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.