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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Tmem147 and Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly 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 TMEM147 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly  (DOID:9007224)
  • 3 papers in RGD have been used to annotate Tmem147


    • An association has been curated linking Tmem147 and Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly 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 TMEM147 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly  (DOID:9007224)
  • 3 papers in RGD have been used to annotate Tmem147
  • Curation Notes: ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition
  • Original References(s): PMID:25741868 PMID:28492532 PMID:36044892


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