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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking ESRP1 and autosomal recessive nonsyndromic deafness 109 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:13674118 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive nonsyndromic deafness 109  (DOID:0111639)
  • 1 papers in RGD have been used to annotate ESRP1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, autosomal recessive 109
  • Original References(s): PMID:29107558


    • An association has been curated linking ESRP1 and autosomal recessive nonsyndromic deafness 109 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:13674119 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive nonsyndromic deafness 109  (DOID:0111639)
  • 1 papers in RGD have been used to annotate ESRP1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, autosomal recessive 109
  • Original References(s): PMID:25741868 PMID:29107558


    • An association has been curated linking ESRP1 and autosomal recessive nonsyndromic deafness 109 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 autosomal recessive nonsyndromic deafness 109  (DOID:0111639)
  • 1 papers in RGD have been used to annotate ESRP1


    • An association has been curated linking ESRP1 and autosomal recessive nonsyndromic deafness 109 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:150512246|RGD:150512249|RGD:150512250|RGD:150512252 (Homo sapiens) & RGD:150512246|RGD:150512249|RGD:150512250|RGD:150512252 (Homo sapiens) & RGD:150512246|RGD:150512249|RGD:150512250|RGD:150512252 (Homo sapiens) & RGD:150512246|RGD:150512249|RGD:150512250|RGD:150512252 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal recessive nonsyndromic deafness 109  (DOID:0111639)
  • 1 papers in RGD have been used to annotate ESRP1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, autosomal recessive 109
  • Original References(s): PMID:25741868


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