Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 2707
  • Symbol: GJB3
  • Description: gap junction protein beta 3

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Disease_Term Source Rank Other Values
Deafness, autosomal dominant 2B, 612644 (3) OMIM high
  • Genome region : 1p34.3
  • OMIM_ID : 603324 OMIM gene ID
  • OMIM_ID : 612644 OMIM phenotype ID
Erythrokeratodermia variabilis et progressiva, 133200 (3) OMIM high
  • Genome region : 1p34.3
  • Genome region : 6q22.31
  • OMIM_ID : 121014 OMIM gene ID
  • OMIM_ID : 133200 OMIM phenotype ID
  • OMIM_ID : 603324 OMIM gene ID
Deafness, autosomal dominant, with peripheral neuropathy (3) OMIM high
  • Genome region : 1p34.3
  • OMIM_ID : 603324 OMIM gene ID
Deafness, autosomal recessive (3) OMIM high
  • Genome region : 1p34.3
  • OMIM_ID : 603324 OMIM gene ID
Deafness, digenic, GJB2/GJB3, 220290 (3) OMIM high
  • Genome region : 1p34.3
  • OMIM_ID : 220290 OMIM phenotype ID
  • OMIM_ID : 603324 OMIM gene ID