Disease: Cerebellar signs ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908217
rs121908217
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0742038
Disease:
Cerebellar signs 		0.020 GeneticVariation BEFREE Although p.Arg583Gln mutations are associated with a heterogeneous phenotype, carriers present cerebellar signs which consisted generally in ataxia and dysmetria, with intention tremor appearing mostly in advanced age, often progressive and permanent. 22527033 2012
dbSNP: rs121908217
rs121908217
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0742038
Disease:
Cerebellar signs 		0.020 GeneticVariation BEFREE Another patient with SHM who had no cerebellar signs carried an R583Q mutation. 12056940 2002