Disease: Myoclonic Epilepsy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808
ATN1 P54259 atrophin 1 1.00 0.409 0.885
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CERS1 P27544 ceramide synthase 1 9.7E-02 0.638 0.385
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EPM2A O95278 EPM2A glucan phosphatase, laforin 8.7E-06 0.608 0.577
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GLRA1 P23415 glycine receptor alpha 1 Ion channel 1.6E-04 0.628 0.500
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154
KIF5A Q12840 kinesin family member 5A Cellular structure 1.00 0.593 0.731
MARCHF6 O60337 membrane associated ring-CH-type finger 6 Enzyme 1.00 0.722 0.385
NDUFV1 P49821 NADH:ubiquinone oxidoreductase core subunit V1 6.4E-11 0.617 0.538
NUS1 Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 0.98 0.619 0.615
PIGW Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 1.2E-05 0.633 0.654
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
PRICKLE1 Q96MT3 prickle planar cell polarity protein 1 Cellular structure 1.00 0.647 0.615
SAMD12 Q8N8I0 sterile alpha motif domain containing 12 1.2E-03 0.700 0.269
SCARB2 Q14108 scavenger receptor class B member 2 Receptor 8.9E-05 0.606 0.615
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808