Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 3784
  • Symbol: KCNQ1
  • Description: potassium voltage-gated channel subfamily Q member 1

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Disease_Term Source Rank Other Values
Long QT syndrome 1, 192500 (3) OMIM high
  • Genome region : 11p15.5-p15.4
  • OMIM_ID : 192500 OMIM phenotype ID
  • OMIM_ID : 607542 OMIM gene ID
{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3) OMIM high
  • Genome region : 11p15.5-p15.4
  • OMIM_ID : 192500 OMIM phenotype ID
  • OMIM_ID : 607542 OMIM gene ID
Short QT syndrome 2, 609621 (3) OMIM high
  • Genome region : 11p15.5-p15.4
  • OMIM_ID : 607542 OMIM gene ID
  • OMIM_ID : 609621 OMIM phenotype ID
Atrial fibrillation, familial, 3, 607554 (3) OMIM high
  • Genome region : 11p15.5-p15.4
  • OMIM_ID : 607542 OMIM gene ID
  • OMIM_ID : 607554 OMIM phenotype ID
Jervell and Lange-Nielsen syndrome, 220400 (3) OMIM high
  • Genome region : 11p15.5-p15.4
  • OMIM_ID : 220400 OMIM phenotype ID
  • OMIM_ID : 607542 OMIM gene ID
Body mass index GWAS high
QT interval GWAS high
Gout GWAS high
Plasma amyloid beta peptide concentrations (ABx-40) GWAS high
Electrocardiographic traits GWAS high
Height GWAS high
Platelet aggregation GWAS high
Glomerular filtration rate in non diabetics (creatinine) GWAS high
Type 2 diabetes GWAS high
Blood pressure measurement (high sodium intervention) GWAS high
Protein quantitative trait loci GWAS high
Glucose homeostasis traits GWAS high