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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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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 607108.0012 | Disease | p.ARG111CYS | FOVEAL HYPOPLASIA, ISOLATED | | OMIM | 607108.0004 | Disease | p.ARG26GLY | PETERS ANOMALY||ANIRIDIA, INCLUDED | | OMIM | 607108.0008 | Disease | p.ARG189TER | ANIRIDIA | | OMIM | 607108.0009 | Disease | p.ARG226TER | ANIRIDIA | | OMIM | 607108.0005 | Disease | p.ARG89TER | ANIRIDIA | | OMIM | 607108.0022 | Disease | p.ARG24THR | ANIRIDIA | | OMIM | 607108.0026 | Disease | p.ARG38TRP | ANIRIDIA | | OMIM | 607108.0003 | Disease | p.GLN102TER | ANIRIDIA | | OMIM | 607108.0018 | Disease | p.GLN191TER | OPTIC NERVE HYPOPLASIA, BILATERAL | | OMIM | 607108.0014 | Disease | p.GLY50VAL | FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME | | OMIM | 607108.0019 | Disease | p.PHE244SER | COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR, INCLUDED | | OMIM | 607108.0017 | Disease | p.PRO54SER | MORNING GLORY DISC ANOMALY | | OMIM | 607108.0023 | Disease | p.SER105ARG | ANIRIDIA | | OMIM | 607108.0006 | Disease | p.SER339TER | CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY | | OMIM | 607108.0016 | Disease | p.TER409LEU | ANIRIDIA | | OMIM | 607108.0020 | Disease | p.THR377ALA | OPTIC NERVE APLASIA, BILATERAL | | OMIM | 607108.0025 | Disease | p.TRP243TER | ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION | | OMIM | 607108.0015 | Disease | p.VAL1ASP | PETERS ANOMALY||FOVEAL HYPOPLASIA, INCLUDED;;||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED | | OMIM | 607108.0013 | Disease | p.VAL112ASP | ANIRIDIA, ATYPICAL |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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386642917
paired box protein Pax-6 isoform a [Homo sapiens]
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