Source: ALL
Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs184841813
rs184841813
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C3538999
Disease:
DYSTONIA 23
0.800 GeneticVariation UNIPROT CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
dbSNP: rs184841813
rs184841813
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C3538999
Disease:
DYSTONIA 23
0.800 CausalMutation CLINVAR CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
dbSNP: rs184841813
rs184841813
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C3538999
Disease:
DYSTONIA 23
0.800 CausalMutation CLINVAR A new familial syndrome with dystonia and lower limb action myoclonus. 21370267 2011
dbSNP: rs7036881
rs7036881
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C0036341
Disease:
Schizophrenia
0.700 GeneticVariation GWASCAT Genome-wide association study of paliperidone efficacy. 27846195 2017
dbSNP: rs184841813
rs184841813
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C1834570
Disease:
Myoclonic dystonia
0.010 GeneticVariation BEFREE The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. 26157024 2016