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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking ALOXE3 and autosomal recessive congenital ichthyosis 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:11629627 (Homo sapiens)
  • 67 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 6 papers in RGD have been used to annotate ALOXE3
  • Curation Notes: ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
  • Original References(s): PMID:28492532


    • An association has been curated linking ALOXE3 and autosomal recessive congenital ichthyosis 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:40815309 (Homo sapiens)
  • 67 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 6 papers in RGD have been used to annotate ALOXE3
  • Curation Notes: ClinVar Annotator: match by term: Lamellar ichthyosis
  • Original References(s): PMID:25741868 PMID:33435499 PMID:33786896


    • An association has been curated linking ALOXE3 and autosomal recessive congenital ichthyosis 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:14696262 (Homo sapiens)
  • 67 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 6 papers in RGD have been used to annotate ALOXE3
  • Curation Notes: ClinVar Annotator: match by term: Lamellar ichthyosis
  • Original References(s): PMID:25741868 PMID:26762237 PMID:30578701 PMID:31168818


    • An association has been curated linking ALOXE3 and autosomal recessive congenital ichthyosis 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:10407770 (Homo sapiens)
  • 67 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 6 papers in RGD have been used to annotate ALOXE3
  • Curation Notes: ClinVar Annotator: match by term: Lamellar ichthyosis
  • Original References(s): PMID:24824130 PMID:26274329 PMID:26578203 PMID:30270455


    • An association has been curated linking ALOXE3 and autosomal recessive congenital ichthyosis 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:11579111 (Homo sapiens)
  • 67 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 6 papers in RGD have been used to annotate ALOXE3
  • Curation Notes: ClinVar Annotator: match by term: Lamellar ichthyosis
  • Original References(s): PMID:11398099 PMID:16116617 PMID:19131948 PMID:19890349 PMID:22622417 PMID:24033266 PMID:25741868 PMID:25998749 PMID:26370990 PMID:26762237 PMID:27025581 PMID:28492532


    • An association has been curated linking ALOXE3 and autosomal recessive congenital ichthyosis 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:11625200 (Homo sapiens)
  • 67 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 6 papers in RGD have been used to annotate ALOXE3
  • Curation Notes: ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma
  • Original References(s): PMID:25741868


    • An association has been curated linking ALOXE3 and autosomal recessive congenital ichthyosis 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:155796412|RGD:156056667|RGD:329847053 (Homo sapiens) & RGD:155796412|RGD:156056667|RGD:329847053 (Homo sapiens) & RGD:155796412|RGD:156056667|RGD:329847053 (Homo sapiens)
  • 67 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 6 papers in RGD have been used to annotate ALOXE3
  • Curation Notes: ClinVar Annotator: match by term: Lamellar ichthyosis


    • An association has been curated linking ALOXE3 and autosomal recessive congenital ichthyosis 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:13481296 (Homo sapiens)
  • 67 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 6 papers in RGD have been used to annotate ALOXE3
  • Curation Notes: ClinVar Annotator: match by term: Lamellar ichthyosis
  • Original References(s): PMID:11773004 PMID:16116617 PMID:19890349 PMID:27025581 PMID:28492532 PMID:29130490 PMID:29935003


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