Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 2068
  • Symbol: ERCC2
  • Description: ERCC excision repair 2, TFIIH core complex helicase subunit

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Disease_Term Source Rank Other Values
Trichothiodystrophy 1, photosensitive, 601675 (3) OMIM high
  • Genome region : 19q13.32
  • OMIM_ID : 126340 OMIM gene ID
  • OMIM_ID : 601675 OMIM phenotype ID
Xeroderma pigmentosum, group D, 278730 (3) OMIM high
  • Genome region : 19q13.32
  • OMIM_ID : 126340 OMIM gene ID
  • OMIM_ID : 278730 OMIM phenotype ID
Cerebrooculofacioskeletal syndrome 2, 610756 (3) OMIM high
  • Genome region : 19q13.32
  • OMIM_ID : 126340 OMIM gene ID
  • OMIM_ID : 610756 OMIM phenotype ID
Lung Cancer (DNA repair capacity) GWAS high