rs786200962, CACNA1A

N. diseases: 7
Disease: Downbeat nystagmus ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Downbeat nystagmus
CUI: C0585544
Disease: Downbeat nystagmus
0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015