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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking DHCR24 and lipid metabolism disorder in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Waterham HR, etal., Am J Hum Genet. 2001 Oct;69(4):685-94. Epub 2001 Aug 22.
  • 2 additional annotations were made from Waterham HR, etal., Am J Hum Genet. 2001 Oct;69(4):685-94. Epub 2001 Aug 22.
  • 666 CRRD objects have been annotated to lipid metabolism disorder  (DOID:3146)
  • 9 papers in CRRD have been used to annotate DHCR24
  • Curation Notes: desmosterolosis, OMIM:602398, Y471S, N294T, K306N

  • This annotation was curated on 2018-04-28 09:00:47.0 by CRRD . 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.