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1 Annotations Found.

An association has been curated linking CEP290 and Muscular hypotonia 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
  • 1340 CRRD objects have been annotated to Muscular hypotonia  (HP:0001252)
  • 14 papers in CRRD have been used to annotate CEP290
  • Curation Notes: OMIM:610188 ORPHA:2318 ORPHA:65

  • This annotation was curated on 2019-07-11 21:57:07.0 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.