Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 1292
  • Symbol: COL6A2
  • Description: collagen type VI alpha 2 chain

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Disease_Term Source Rank Other Values
Ullrich congenital muscular dystrophy 1, 254090 (3) OMIM high
  • Genome region : 21q22.3
  • Genome region : 2q37.3
  • OMIM_ID : 120220 OMIM gene ID
  • OMIM_ID : 120240 OMIM gene ID
  • OMIM_ID : 120250 OMIM gene ID
  • OMIM_ID : 254090 OMIM phenotype ID
Bethlem myopathy 1, 158810 (3) OMIM high
  • Genome region : 21q22.3
  • Genome region : 2q37.3
  • OMIM_ID : 120220 OMIM gene ID
  • OMIM_ID : 120240 OMIM gene ID
  • OMIM_ID : 120250 OMIM gene ID
  • OMIM_ID : 158810 OMIM phenotype ID
?Myosclerosis, congenital, 255600 (3) OMIM high
  • Genome region : 21q22.3
  • OMIM_ID : 120240 OMIM gene ID
  • OMIM_ID : 255600 OMIM phenotype ID