Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 3708
  • Symbol: ITPR1
  • Description: inositol 1,4,5-trisphosphate receptor type 1

Marrvel Logo and Link

Export (tab separated) Export to Excel

Disease_Term Source Rank Other Values
Spinocerebellar ataxia 15, 606658 (3) OMIM high
  • Genome region : 3p26.1
  • OMIM_ID : 147265 OMIM gene ID
  • OMIM_ID : 606658 OMIM phenotype ID
Gillespie syndrome, 206700 (3) OMIM high
  • Genome region : 3p26.1
  • OMIM_ID : 147265 OMIM gene ID
  • OMIM_ID : 206700 OMIM phenotype ID
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3) OMIM high
  • Genome region : 3p26.1
  • OMIM_ID : 117360 OMIM phenotype ID
  • OMIM_ID : 147265 OMIM gene ID
Airflow obstruction GWAS high
Lead levels GWAS high
Systolic blood pressure GWAS high
Breast cancer GWAS high
Obesity-related traits GWAS high
Diabetic kidney disease GWAS high