Disease: Generalized myoclonic seizures
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
CARS2 Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 9.6E-08 0.700 0.423
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CUX2 O14529 cut like homeobox 2 Transcription factor 1.00 0.644 0.500
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
DPM2 O94777 dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.32 0.666 0.500
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GABRG2 P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 0.74 0.548 0.654
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308
MAPK10 P53779 mitogen-activated protein kinase 10 Kinase 0.28 0.606 0.692
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
NUS1 Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 0.98 0.619 0.615
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654