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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking ACTB and genetic disease 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:13517376 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:29220674 PMID:35313204


    • An association has been curated linking ACTB and genetic disease 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:40886819 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:22366544


    • An association has been curated linking ACTB and genetic disease 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:40887307 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:29220674


    • An association has been curated linking ACTB and genetic disease 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:13532785 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:25741868 PMID:25979418 PMID:28492532


    • An association has been curated linking ACTB and genetic disease 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:10401587 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:26713879 PMID:26795593 PMID:28492532


    • An association has been curated linking ACTB and genetic disease 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:13801916 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


    • An association has been curated linking ACTB and genetic disease 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:8657476 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:18414213 PMID:25052316 PMID:25741868 PMID:28991257 PMID:32368696 PMID:32860008 PMID:35182466


    • An association has been curated linking ACTB and genetic disease 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:155982559 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:28492532


    • An association has been curated linking ACTB and genetic disease 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:8600923 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:12325076 PMID:16685646 PMID:22366783 PMID:25255767 PMID:25741868 PMID:26583190 PMID:27862284 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:30315159 PMID:31970217 PMID:33446253 PMID:35005077 PMID:9714430


    • An association has been curated linking ACTB and genetic disease 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:11560137 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking ACTB and genetic disease 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:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens) & RGD:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens) & RGD:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens) & RGD:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens) & RGD:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens) & RGD:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens) & RGD:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens) & RGD:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens) & RGD:13530737|RGD:13532506|RGD:13532965|RGD:13608971|RGD:401867181|RGD:40886632|RGD:40886939|RGD:40886964|RGD:40887982 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases


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