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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Asph and Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with ASPH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  (DOID:9000195)
  • 10 papers in RGD have been used to annotate Asph
  • Curation Notes: ClinVar Annotator: match by OMIM:601552
  • Original References(s): PMID:11241487 PMID:23687502 PMID:24768550


  • An association has been curated linking Asph and Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ASPH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  (DOID:9000195)
  • 10 papers in RGD have been used to annotate Asph


  • An association has been curated linking Asph and Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with ASPH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  (DOID:9000195)
  • 10 papers in RGD have been used to annotate Asph
  • Curation Notes: ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
  • Original References(s): PMID:30194805


  • An association has been curated linking Asph and Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with ASPH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  (DOID:9000195)
  • 10 papers in RGD have been used to annotate Asph
  • Curation Notes: ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs


  • An association has been curated linking Asph and Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with ASPH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  (DOID:9000195)
  • 10 papers in RGD have been used to annotate Asph
  • Curation Notes: ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
  • Original References(s): PMID:25741868


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