Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5077
  • Symbol: PAX3
  • Description: paired box 3

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Disease_Term Source Rank Other Values
Craniofacial-deafness-hand syndrome, 122880 (3) OMIM high
  • Genome region : 2q36.1
  • OMIM_ID : 122880 OMIM phenotype ID
  • OMIM_ID : 606597 OMIM gene ID
Waardenburg syndrome, type 1, 193500 (3) OMIM high
  • Genome region : 2q36.1
  • OMIM_ID : 193500 OMIM phenotype ID
  • OMIM_ID : 606597 OMIM gene ID
Waardenburg syndrome, type 3, 148820 (3) OMIM high
  • Genome region : 2q36.1
  • OMIM_ID : 148820 OMIM phenotype ID
  • OMIM_ID : 606597 OMIM gene ID
Rhabdomyosarcoma 2, alveolar, 268220 (3) OMIM high
  • Genome region : 1p36.13
  • Genome region : 2q36.1
  • OMIM_ID : 167410 OMIM gene ID
  • OMIM_ID : 268220 OMIM phenotype ID
  • OMIM_ID : 606597 OMIM gene ID
middle facial morphology traits (quantitative measurement) GWAS high
Diisocyanate-induced asthma GWAS high
Monobrow thickness GWAS high
Adolescent idiopathic scoliosis GWAS high
Facial morphology GWAS high
Amyotrophic lateral sclerosis (sporadic) GWAS high
Information processing speed GWAS high
Vitamin D levels GWAS high