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Results for the Protein: NP_001245393
386642915

paired box protein Pax-6 isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  ANIRIDIA
  ANIRIDIA, ATYPICAL
  ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
  ANIRIDIA, INCLUDED
  CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
  COLOBOMA OF OPTIC NERVE
  COLOBOMA, OCULAR, INCLUDED
  FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
  FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED
  FOVEAL HYPOPLASIA, INCLUDED;;
  FOVEAL HYPOPLASIA, ISOLATED
  MORNING GLORY DISC ANOMALY
  OPTIC NERVE APLASIA, BILATERAL
  OPTIC NERVE HYPOPLASIA, BILATERAL
  PETERS ANOMALY
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