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: 348980
Gene Symbol: HCN1
HCN1 		hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		disease 0.700 None 1.000 0 8 2014 2018
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.130 None 1.000 0 2 2014 2018
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease 0.100 None 0 1