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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking GJA1 and erythrokeratodermia variabilis et progressiva 3 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10054558 (Homo sapiens)
  • 1 RGD objects have been annotated to erythrokeratodermia variabilis et progressiva 3  (DOID:0080249)
  • 71 papers in RGD have been used to annotate GJA1
  • Curation Notes: ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3
  • Original References(s): PMID:25398053 PMID:28492532


    • An association has been curated linking GJA1 and erythrokeratodermia variabilis et progressiva 3 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to erythrokeratodermia variabilis et progressiva 3  (DOID:0080249)
  • 71 papers in RGD have been used to annotate GJA1


    • An association has been curated linking GJA1 and erythrokeratodermia variabilis et progressiva 3 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10056122 (Homo sapiens)
  • 1 RGD objects have been annotated to erythrokeratodermia variabilis et progressiva 3  (DOID:0080249)
  • 71 papers in RGD have been used to annotate GJA1
  • Curation Notes: ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3
  • Original References(s): PMID:25398053 PMID:28492532 PMID:30628963 PMID:30631135


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