Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 6311
  • Symbol: ATXN2
  • Description: ataxin 2

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Disease_Term Source Rank Other Values
Spinocerebellar ataxia 2, 183090 (3) OMIM high
  • Genome region : 12q24.12
  • OMIM_ID : 183090 OMIM phenotype ID
  • OMIM_ID : 601517 OMIM gene ID
{Parkinson disease, late-onset, susceptibility to}, 168600 (3) OMIM high
  • Genome region : 12q24.12
  • Genome region : 1q22
  • OMIM_ID : 168600 OMIM phenotype ID
  • OMIM_ID : 601517 OMIM gene ID
  • OMIM_ID : 606463 OMIM gene ID
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3) OMIM high
  • Genome region : 12q24.12
  • OMIM_ID : 183090 OMIM phenotype ID
  • OMIM_ID : 601517 OMIM gene ID
Blood pressure GWAS high
Thyroid peroxidase antibody positivity GWAS high
Platelet count GWAS high
Diastolic blood pressure GWAS high
Inflammatory bowel disease GWAS high
Celiac disease GWAS high
Urate levels GWAS high
Primary biliary cirrhosis GWAS high
Glaucoma (primary open-angle) GWAS high
Systemic lupus erythematosus GWAS high
Peripheral artery disease GWAS high
Chronic kidney disease GWAS high
Red blood cell traits GWAS high
Hematocrit GWAS high
Beta-2 microglubulin plasma levels GWAS high
Thyroid peroxidase antibody levels GWAS high
Crohn's disease GWAS high
Retinal vascular caliber GWAS high
Hypothyroidism GWAS high