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1 Annotations Found.

An association has been curated linking Tmem67 and Hereditary Macular Coloboma in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:8556166 (Homo sapiens)
  • 2 CRRD objects have been annotated to Hereditary Macular Coloboma  (DOID:9004910)
  • 2 papers in CRRD have been used to annotate Tmem67
  • Curation Notes: ClinVar Annotator: match by term: Macular coloboma
  • Original References(s): PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:30311386

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