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Disease name, Applicable field
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cancer, Development
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OMIM |
OMIM ID:
607108
Human Gene Symbol:
PAX6
Allelic Variant Name :
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FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES |
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FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME |
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PETERS ANOMALY |
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KERATITIS, AUTOSOMAL DOMINANT |
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ANIRIDIA |
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ECTOPIA PUPILLAE |
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OPTIC NERVE HYPOPLASIA, BILATERAL |
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COLOBOMA OF OPTIC NERVE |
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OPTIC NERVE APLASIA, BILATERAL |
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FOVEAL HYPOPLASIA, ISOLATED |
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ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY |
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MORNING GLORY DISC ANOMALY |
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CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY |
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