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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PHKA2 and Elevated circulating alanine aminotransferase concentration in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Bali DS, etal., JIMD Rep. 2017;37:63-72. doi: 10.1007/8904_2017_8. Epub 2017 Mar 12.
  • 7 additional annotations were made from Bali DS, etal., JIMD Rep. 2017;37:63-72. doi: 10.1007/8904_2017_8. Epub 2017 Mar 12.
  • 91 RGD objects have been annotated to Elevated circulating alanine aminotransferase concentration  (HP:0031964)
  • 11 papers in RGD have been used to annotate PHKA2
  • Curation Notes: associated with glycogen storage disease IXa;DNA:mutations:multiple


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