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PAX6 - paired box 6
- Synonym(s) : AN, Aniridia 1, Aniridia 2, aniridia, keratitis, D11S812E, WAGR
- Previous symbols and names : AN1, AN2, paired box gene 6 (aniridia, keratitis)
- Type : gene with protein product
- Chromosomal location : 11p13
- OMIM: 607108
- HGNC: 8620
- UniProtKB: P26367
- Genatlas: PAX6
- GenCC: PAX6
- Ensembl: ENSG00000007372
- IUPHAR-DB: -
- Reactome: P26367
- LOVD: PAX6
Diseases list
- Disease-causing germline mutation(s) in Aniridia-cerebellar ataxia-intellectual disability syndrome
ORPHA:1065 
- Disease-causing germline mutation(s) in Autosomal dominant keratitis
ORPHA:2334 - Disease-causing germline mutation(s) in Coloboma of choroid and retina
ORPHA:98942 - Disease-causing germline mutation(s) in Coloboma of eye lens
ORPHA:98943 - Disease-causing germline mutation(s) in Coloboma of eyelid
ORPHA:98946 - Disease-causing germline mutation(s) in Coloboma of iris
ORPHA:98944 - Disease-causing germline mutation(s) in Coloboma of macula
ORPHA:98945 - Disease-causing germline mutation(s) in Coloboma of optic disc
ORPHA:98947 - Disease-causing germline mutation(s) in Foveal hypoplasia-presenile cataract syndrome
ORPHA:2253 - Disease-causing germline mutation(s) in Peters anomaly
ORPHA:708 - Disease-causing germline mutation(s) (loss of function) in Isolated aniridia
ORPHA:250923 - Role in the phenotype of WAGR syndrome
ORPHA:893 - Candidate gene tested in Morning glory disc anomaly
ORPHA:35737
: AssessedAdditional information
Patient-centred resources for this gene
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