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: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.700 definitive 0.960 8 0 2002 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.430 definitive 1.000 13 0 1997 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.420 strong 1.000 2 0 2001 2019
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		dynamin 1 0.595 0.692 1.00
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.300 definitive 1.000 10 0 1993 2016
Entrez Id: 150094
Gene Symbol: SIK1
SIK1 		salt inducible kinase 1 0.544 0.731 0.94
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.300 limited 1.000 2 0 2015 2017