Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:5080
  • Symbol:PAX6
  • Description:paired box 6

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Disease_Term Source Rank Other Values
Optic nerve hypoplasia, 165550 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :165550OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
Aniridia, 106210 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :106210OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
Cataract with late-onset corneal dystrophy, 106210 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :106210OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
?Coloboma of optic nerve, 120430 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :120430OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
Anterior segment dysgenesis 5, multiple subtypes, 604229 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :604229OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
Foveal hypoplasia 1, 136520 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :136520OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
?Coloboma, ocular, 120200 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :120200OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
Keratitis, 148190 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :148190OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (4) OMIM high
  • Genome region :11p13
?Morning glory disc anomaly, 120430 (3) OMIM high
  • Genome region :11p13
  • OMIM_ID :120430OMIM phenotype ID
  • OMIM_ID :607108OMIM gene ID
Body mass index GWAS high