Source: GENOMICS_ENGLAND

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: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.510 strong 1.000 1 0 2004 2019
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease 0.510 strong 1.000 1 0 2002 2010
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.500 strong 1.000 1 0 2004 2004
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 1 0 2004 2004
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.310 strong 1.000 1 0 2004 2019
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2004 2004