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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking PHYH and Adult Refsum Disease, 1 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:8560005 (Homo sapiens)
  • 1 RGD objects have been annotated to Adult Refsum Disease, 1  (DOID:9003094)
  • 13 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: Refsum disease, adult, 1
  • Original References(s): PMID:9326940


    • An association has been curated linking PHYH and Adult Refsum Disease, 1 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:8560008 (Homo sapiens)
  • 1 RGD objects have been annotated to Adult Refsum Disease, 1  (DOID:9003094)
  • 13 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: Refsum disease, adult, 1
  • Original References(s): PMID:10767344


    • An association has been curated linking PHYH and Adult Refsum Disease, 1 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:8560006 (Homo sapiens)
  • 1 RGD objects have been annotated to Adult Refsum Disease, 1  (DOID:9003094)
  • 13 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: Refsum disease, adult, 1
  • Original References(s): PMID:2433405 PMID:9326940


    • An association has been curated linking PHYH and Adult Refsum Disease, 1 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:8560004 (Homo sapiens)
  • 1 RGD objects have been annotated to Adult Refsum Disease, 1  (DOID:9003094)
  • 13 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: Refsum disease, adult, 1
  • Original References(s): PMID:10767344 PMID:11948235 PMID:14974078 PMID:17905308 PMID:18612766 PMID:25525159 PMID:25741868 PMID:28470644 PMID:28492532 PMID:28681609 PMID:31240149 PMID:34906470 PMID:9326939 PMID:9326940


    • An association has been curated linking PHYH and Adult Refsum Disease, 1 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:8560003 (Homo sapiens)
  • 1 RGD objects have been annotated to Adult Refsum Disease, 1  (DOID:9003094)
  • 13 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: Refsum disease, adult, 1
  • Original References(s): PMID:10767344 PMID:11555634 PMID:1155634 PMID:14974078 PMID:25741868 PMID:28041643 PMID:28492532 PMID:34906470 PMID:9326939 PMID:9657395


    • An association has been curated linking PHYH and Adult Refsum Disease, 1 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:8560007 (Homo sapiens)
  • 1 RGD objects have been annotated to Adult Refsum Disease, 1  (DOID:9003094)
  • 13 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: Refsum disease, adult, 1
  • Original References(s): PMID:10767344 PMID:28492532


    • An association has been curated linking PHYH and Adult Refsum Disease, 1 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:8560009 (Homo sapiens)
  • 1 RGD objects have been annotated to Adult Refsum Disease, 1  (DOID:9003094)
  • 13 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: Refsum disease, adult, 1
  • Original References(s): PMID:10767344 PMID:25741868


    • An association has been curated linking PHYH and Adult Refsum Disease, 1 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:8560010 (Homo sapiens)
  • 1 RGD objects have been annotated to Adult Refsum Disease, 1  (DOID:9003094)
  • 13 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: Refsum disease, adult, 1
  • Original References(s): PMID:10767344 PMID:11555634 PMID:25741868 PMID:28041643 PMID:28492532 PMID:9657395


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