Disease: Cerebellar atrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0740279
Disease:
Cerebellar atrophy 		0.030 GeneticVariation BEFREE Familial hemiplegic migraine with prolonged coma and cerebellar atrophy: CACNA1A T666M mutation in a Korean family. 22969264 2012
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0740279
Disease:
Cerebellar atrophy 		0.030 GeneticVariation BEFREE One patient with SHM also had ataxia, nystagmus, and cerebellar atrophy on computed tomography and carried a T666M mutation. 12056940 2002
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0740279
Disease:
Cerebellar atrophy 		0.030 GeneticVariation BEFREE Our findings should indicate that a T666M mutation of CACNA1A may be associated with more variable clinical features and that paroxysmal hemiplegic migraine attacks and progressive cerebellar atrophy should have distinct mechanisms of pathogenesis. 11814735 2002