Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 4208
  • Symbol: MEF2C
  • Description: myocyte enhancer factor 2C

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Disease_Term Source Rank Other Values
Chromosome 5q14.3 deletion syndrome, 613443 (4) OMIM high
  • Genome region : 5q14.3
  • OMIM_ID : 600662 OMIM gene ID
  • OMIM_ID : 613443 OMIM phenotype ID
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3) OMIM high
  • Genome region : 5q14.3
  • OMIM_ID : 600662 OMIM gene ID
  • OMIM_ID : 613443 OMIM phenotype ID
Tonometry GWAS high
Mean platelet volume GWAS high
Alzheimer's disease (late onset) GWAS high
Retinal vascular caliber GWAS high
Vascular endothelial growth factor levels GWAS high
Bone mineral density GWAS high
Schizophrenia GWAS high
Glomerular filtration rate in chronic kidney disease GWAS high
Platelet count GWAS high
Bone mineral density (hip) GWAS high
Thiazide-induced adverse metabolic effects in hypertensive patients GWAS high
Height GWAS high
Retinal arteriolar caliber GWAS high
Bone mineral density (Ward's triangle area) GWAS high