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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gjb3 and erythrokeratodermia variabilis et progressiva 1 in Rattus norvegicus.        

  • 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 GJB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to erythrokeratodermia variabilis et progressiva 1  (DOID:0111195)
  • 31 papers in RGD have been used to annotate Gjb3


    • An association has been curated linking Gjb3 and erythrokeratodermia variabilis et progressiva 1 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 GJB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to erythrokeratodermia variabilis et progressiva 1  (DOID:0111195)
  • 31 papers in RGD have been used to annotate Gjb3
  • Curation Notes: ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1
  • Original References(s): PMID:10587579 PMID:10594760 PMID:10798362 PMID:10888284 PMID:11175305 PMID:12019212 PMID:12165562 PMID:12648223 PMID:12702148 PMID:15131355 PMID:17567887 PMID:19050930 PMID:19755382 PMID:20981092 PMID:22617145 PMID:24033266 PMID:24498627 PMID:24853665 PMID:25262649 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27884173 PMID:28492532 PMID:35677558 PMID:9843209 PMID:9843210


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