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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking TMEM67 and Iris coloboma 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:13528944 (Homo sapiens)
  • 179 RGD objects have been annotated to Iris coloboma  (HP:0000612)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Coloboma of iris
  • Original References(s): PMID:20232449 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26729329 PMID:28492532


    • An association has been curated linking TMEM67 and Iris coloboma 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:13612454 (Homo sapiens)
  • 179 RGD objects have been annotated to Iris coloboma  (HP:0000612)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Iris coloboma
  • Original References(s): PMID:25741868


    • An association has been curated linking TMEM67 and Iris coloboma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 179 RGD objects have been annotated to Iris coloboma  (HP:0000612)
  • 23 papers in RGD have been used to annotate TMEM67
  • Original References(s): ORPHA:1454


    • An association has been curated linking TMEM67 and Iris coloboma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 179 RGD objects have been annotated to Iris coloboma  (HP:0000612)
  • 23 papers in RGD have been used to annotate TMEM67
  • Original References(s): ORPHA:475


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