Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease 0.510 disputed 1.000 6 0 2000 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder
phenotype 0.300 disputed 1.000 6 0 2000 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
phenotype 0.300 disputed 1.000 6 0 2000 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder)
disease 0.300 disputed 1.000 6 0 2000 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
phenotype 0.300 disputed 1.000 6 0 2000 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
disease 0.300 disputed 1.000 6 0 2000 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
disease 0.300 disputed 1.000 6 0 2000 2012
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2 0.659 0.538 2.7E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.300 0 0