Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 773
  • Symbol: CACNA1A
  • Description: calcium voltage-gated channel subunit alpha1 A

Marrvel Logo and Link

Export (tab separated) Export to Excel

Disease_Term Source Rank Other Values
Epileptic encephalopathy, early infantile, 42, 617106 (3) OMIM high
  • Genome region : 19p13.13
  • OMIM_ID : 601011 OMIM gene ID
  • OMIM_ID : 617106 OMIM phenotype ID
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) OMIM high
  • Genome region : 19p13.13
  • OMIM_ID : 141500 OMIM phenotype ID
  • OMIM_ID : 601011 OMIM gene ID
Episodic ataxia, type 2, 108500 (3) OMIM high
  • Genome region : 19p13.13
  • OMIM_ID : 108500 OMIM phenotype ID
  • OMIM_ID : 601011 OMIM gene ID
Spinocerebellar ataxia 6, 183086 (3) OMIM high
  • Genome region : 19p13.13
  • OMIM_ID : 183086 OMIM phenotype ID
  • OMIM_ID : 601011 OMIM gene ID
Migraine, familial hemiplegic, 1, 141500 (3) OMIM high
  • Genome region : 19p13.13
  • OMIM_ID : 141500 OMIM phenotype ID
  • OMIM_ID : 601011 OMIM gene ID
Proteinuria and chronic kidney disease GWAS high
Exfoliation syndrome GWAS high