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: 8912
Gene Symbol: CACNA1H
CACNA1H 		calcium voltage-gated channel subunit alpha1 H 0.628 0.423 4.8E-10
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease 0.360 disputed 1.000 6 0 1999 2019