Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5265
  • Symbol: SERPINA1
  • Description: serpin family A member 1

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Disease_Term Source Rank Other Values
Emphysema due to AAT deficiency, 613490 (3) OMIM high
  • Genome region : 14q32.13
  • OMIM_ID : 107400 OMIM gene ID
  • OMIM_ID : 613490 OMIM phenotype ID
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) OMIM high
  • Genome region : 14q32.13
  • OMIM_ID : 107400 OMIM gene ID
  • OMIM_ID : 613490 OMIM phenotype ID
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1) OMIM high
  • Genome region : 14q32.13
  • OMIM_ID : 107400 OMIM gene ID
  • OMIM_ID : 606963 OMIM phenotype ID
Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3) OMIM high
  • Genome region : 14q32.13
  • OMIM_ID : 107400 OMIM gene ID
  • OMIM_ID : 613490 OMIM phenotype ID
Manganese levels GWAS high
Post bronchodilator FEV1/FVC ratio GWAS high
Metabolite levels GWAS high
Metabolite levels (small molecules and protein measures) GWAS high
Post bronchodilator FEV1 GWAS high
Antineutrophil cytoplasmic antibody-associated vasculitis GWAS high