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 LOC102004294 and autosomal recessive congenital ichthyosis in Chinchilla lanigera.        

  • 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 CYP4F22 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 47 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 2 papers in RGD have been used to annotate LOC102004294
  • Curation Notes: ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
  • Original References(s): PMID:16436457 PMID:23621129 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:27025581 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33786896


  • Go Back to source page   Continue to Ontology report