Disease: Absence Seizures
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
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
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
CILK1 Q9UPZ9 ciliogenesis associated kinase 1 Kinase 1.3E-05 0.545 0.808
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CUX2 O14529 cut like homeobox 2 Transcription factor 1.00 0.644 0.500
EFHC1 Q5JVL4 EF-hand domain containing 1 1.9E-17 0.659 0.231
EPM2A O95278 EPM2A glucan phosphatase, laforin 8.7E-06 0.608 0.577
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
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GABRG2 P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 0.74 0.548 0.654
GAMT Q14353 guanidinoacetate N-methyltransferase 9.5E-03 0.691 0.269
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
INS P01308 insulin 0.30 0.445 0.923
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
NHLRC1 Q6VVB1 NHL repeat containing E3 ubiquitin protein ligase 1 9.4E-02 0.656 0.423
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN1B Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 0.10 0.575 0.538