Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 3852
  • Symbol: KRT5
  • Description: keratin 5

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Disease_Term Source Rank Other Values
Epidermolysis bullosa simplex-MP, 131960 (3) OMIM high
  • Genome region : 12q13.13
  • OMIM_ID : 131960 OMIM phenotype ID
  • OMIM_ID : 148040 OMIM gene ID
Epidermolysis bullosa simplex, Koebner type, 131900 (3) OMIM high
  • Genome region : 12q13.13
  • Genome region : 17q21.2
  • OMIM_ID : 131900 OMIM phenotype ID
  • OMIM_ID : 148040 OMIM gene ID
  • OMIM_ID : 148066 OMIM gene ID
Epidermylysis bullosa simplex-MCR, 609352 (3) OMIM high
  • Genome region : 12q13.13
  • OMIM_ID : 148040 OMIM gene ID
  • OMIM_ID : 609352 OMIM phenotype ID
Epidermolysis bullosa simplex, recessive 1, 601001 (3) OMIM high
  • Genome region : 12q13.13
  • Genome region : 17q21.2
  • OMIM_ID : 148040 OMIM gene ID
  • OMIM_ID : 148066 OMIM gene ID
  • OMIM_ID : 601001 OMIM phenotype ID
Dowling-Degos disease 1, 179850 (3) OMIM high
  • Genome region : 12q13.13
  • OMIM_ID : 148040 OMIM gene ID
  • OMIM_ID : 179850 OMIM phenotype ID
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) OMIM high
  • Genome region : 12q13.13
  • Genome region : 17q21.2
  • OMIM_ID : 131800 OMIM phenotype ID
  • OMIM_ID : 148040 OMIM gene ID
  • OMIM_ID : 148066 OMIM gene ID
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3) OMIM high
  • Genome region : 12q13.13
  • Genome region : 17q21.2
  • OMIM_ID : 131760 OMIM phenotype ID
  • OMIM_ID : 148040 OMIM gene ID
  • OMIM_ID : 148066 OMIM gene ID
Basal cell carcinoma GWAS high