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Results for the Protein: P26367
6174889

PAX6_HUMAN RecName: Full=Paired box protein Pax-6; AltName: Full=Aniridia type II protein; AltName: Full=Oculorhombin

Known Diseases associated with this Protein:
  ANIRIDIA
  ANIRIDIA (AN)
  ANIRIDIA, ATYPICAL
  ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
  ANIRIDIA, INCLUDED
  BILATERAL OPTIC NERVE HYPOPLASIA (BONH)
  CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
  COLOBOMA OF IRIS CHOROID AND RETINA (COI)
  COLOBOMA OF OPTIC NERVE
  COLOBOMA, OCULAR, INCLUDED
  FOVEAL HYPOPLASIA (FOVHYP)
  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
  PETERS ANOMALY (PAN)
57
5
19
0
43
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