Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
CUI: C0004134
Disease: Ataxia
Ataxia 		0.320 GeneticVariation BEFREE These findings oppose an essential role of the β(4) distal C-terminus in nuclear targeting and challenge the idea that the nuclear function of calcium channel β(4) subunits is critically involved in the etiology of epilepsy and ataxia in patients and mouse models with mutations in the CACNB4 gene. 24875574

2014
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
CUI: C0004134
Disease: Ataxia
Ataxia 		0.320 GeneticVariation BEFREE To determine the role of the calcium-channel beta4-subunit gene CACNB4 on chromosome 2q22-23 in related human disorders, we screened for mutations in small pedigrees with familial epilepsy and ataxia. 10762541

2000