Disease: Myoclonic Epilepsy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731
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
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
EPM2A O95278 EPM2A glucan phosphatase, laforin 8.7E-06 0.608 0.577
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
ND5 P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 0.531 0.769
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
NDUFA1 O15239 NADH:ubiquinone oxidoreductase subunit A1 0.55 0.636 0.423
NUS1 Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 0.98 0.619 0.615
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
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615
SLC25A22 Q9H936 solute carrier family 25 member 22 Transporter 6.6E-03 0.595 0.577
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TK2 O00142 thymidine kinase 2 Kinase 3.9E-07 0.585 0.615
TRIT1 Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 4.1E-11 0.621 0.692
TRNK tRNA 0.608 0.577