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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking TMEM67 and Occipital encephalocele in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Zhang M, etal., Int J Clin Exp Pathol. 2015 May 1;8(5):5379-86. eCollection 2015.
  • 4 additional annotations were made from Zhang M, etal., Int J Clin Exp Pathol. 2015 May 1;8(5):5379-86. eCollection 2015.
  • 39 RGD objects have been annotated to Occipital encephalocele  (HP:0002085)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: DNA:missense mutation:exon:p.R549C (c.1645C>T)


    • An association has been curated linking TMEM67 and Occipital encephalocele 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
  • 39 RGD objects have been annotated to Occipital encephalocele  (HP:0002085)
  • 23 papers in RGD have been used to annotate TMEM67
  • Original References(s): OMIM:607361


    • An association has been curated linking TMEM67 and Occipital encephalocele 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
  • 39 RGD objects have been annotated to Occipital encephalocele  (HP:0002085)
  • 23 papers in RGD have been used to annotate TMEM67
  • Original References(s): OMIM:216360


    • An association has been curated linking TMEM67 and Occipital encephalocele 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
  • 39 RGD objects have been annotated to Occipital encephalocele  (HP:0002085)
  • 23 papers in RGD have been used to annotate TMEM67
  • Original References(s): ORPHA:1454


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