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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Phox2b and congenital central hypoventilation syndrome in Heterocephalus glaber.        

  • 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 PHOX2B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to congenital central hypoventilation syndrome  (DOID:0060731)
  • 0 papers in RGD have been used to annotate Phox2b
  • Curation Notes: ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation
  • Original References(s): PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 PMID:15334515 PMID:15338462 PMID:15657873 PMID:16199547 PMID:16763219 PMID:16830328 PMID:16873766 PMID:16888290 PMID:17637745 PMID:17765533 PMID:17928950 PMID:18079495 PMID:19011468 PMID:19058226 PMID:20208042 PMID:20301600 PMID:20456320 PMID:24033266 PMID:25156769 PMID:25326635 PMID:25741868 PMID:26063465 PMID:27013732 PMID:27153395 PMID:28422456 PMID:28492532 PMID:28873162 PMID:29531718 PMID:29543228 PMID:29704303 PMID:30672101 PMID:32573669 PMID:34012823 PMID:34298581


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