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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking MCCC2 and mitochondrial metabolism disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Gallardo ME, etal., Am J Hum Genet. 2001 Feb;68(2):334-46. Epub 2001 Jan 17.
  • 2 additional annotations were made from Gallardo ME, etal., Am J Hum Genet. 2001 Feb;68(2):334-46. Epub 2001 Jan 17.
  • 350 RGD objects have been annotated to mitochondrial metabolism disease  (DOID:700)
  • 8 papers in RGD have been used to annotate MCCC2
  • Curation Notes: DNA:missense mutations, frameshift mutations:multiple (human)

  • This annotation was curated on 2018-02-24 09:00:27.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.