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: 57526
Gene Symbol: PCDH19
PCDH19 		protocadherin 19 0.599 0.462 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.600 definitive 0.981 2 0 2008 2019
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2 		gamma-aminobutyric acid type A receptor subunit gamma2 0.548 0.654 0.74
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.400 definitive 0.844 8 0 2001 2019
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.360 limited 1.000 6 0 2004 2019
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4 		calcium voltage-gated channel auxiliary subunit beta 4 0.653 0.231 3.1E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.320 disputed 1.000 6 0 1997 2017