Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:4286
  • Symbol:MITF
  • Description:melanocyte inducing transcription factor

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Disease_Term Source Rank Other Values
Waardenburg syndrome/ocular albinism, digenic, 103470 (3) OMIM high
  • Genome region :3p13
  • OMIM_ID :103470OMIM phenotype ID
  • OMIM_ID :156845OMIM gene ID
Tietz albinism-deafness syndrome, 103500 (3) OMIM high
  • Genome region :3p13
  • OMIM_ID :103500OMIM phenotype ID
  • OMIM_ID :156845OMIM gene ID
{Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3) OMIM high
  • Genome region :3p13
  • OMIM_ID :156845OMIM gene ID
  • OMIM_ID :614456OMIM phenotype ID
Waardenburg syndrome, type 2A, 193510 (3) OMIM high
  • Genome region :3p13
  • OMIM_ID :156845OMIM gene ID
  • OMIM_ID :193510OMIM phenotype ID
COMMAD syndrome, 617306 (3) OMIM high
  • Genome region :3p13
  • OMIM_ID :156845OMIM gene ID
  • OMIM_ID :617306OMIM phenotype ID
Severe influenza A (H1N1) infection GWAS high