Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:80781
  • Symbol:COL18A1
  • Description:collagen type XVIII alpha 1 chain

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Disease_Term Source Rank Other Values
Knobloch syndrome, type 1, 267750 (3) OMIM high
  • Genome region :21q22.3
  • OMIM_ID :120328OMIM gene ID
  • OMIM_ID :267750OMIM phenotype ID
Hippocampal atrophy GWAS high