| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.320 | Biomarker | disease | CLINGEN | Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. | 27959697 | 2017 | ||||
|
0.320 | GeneticVariation | disease | BEFREE | Mutations of the neuronal Cacnb4 (β<sub>4</sub>) subunit are linked to human neuropsychiatric disorders including epilepsy and intellectual disabilities. | 28587927 | 2017 | ||||
|
0.320 | GeneticVariation | disease | 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 | ||||
|
0.320 | Biomarker | disease | CLINGEN | 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 | ||||
|
0.320 | Biomarker | disease | CLINGEN | A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. | 18755274 | 2008 | ||||
|
0.320 | Biomarker | disease | CLINGEN | 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 | ||||
|
0.320 | Biomarker | disease | CLINGEN | A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit. | 9442082 | 1998 | ||||
|
0.320 | Biomarker | disease | CLINGEN | Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. | 9039265 | 1997 |