Source: CLINVAR

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: 3745
Gene Symbol: KCNB1
KCNB1 		potassium voltage-gated channel subfamily B member 1 0.650 0.462 1.00
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		disease 0.700 None 1.000 6 13 2014 2017