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: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.700 None 0.939 0 3 2002 2020
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 1.000 1 4 2015 2015
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 1.000 1 1 2012 2012
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		choline O-acetyltransferase 0.520 0.808 5.6E-11
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 2
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 1.000 0 3 2014 2014