Disease: Seizures
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
GRM7 Q14831 glutamate metabotropic receptor 7 G-protein coupled receptor 1.00 0.628 0.538
KIF5B P33176 kinesin family member 5B Cellular structure 0.99 0.604 0.538
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
FLG-AS1 FLG antisense RNA 1 0.700 0.538
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
SLC25A22 Q9H936 solute carrier family 25 member 22 Transporter 6.6E-03 0.595 0.577
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
SLC13A5 Q86YT5 solute carrier family 13 member 5 Transporter 5.1E-04 0.608 0.577
SNHG14 small nucleolar RNA host gene 14 0.656 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
MYO5A Q9Y4I1 myosin VA Cellular structure 0.94 0.628 0.615
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
PIGT Q969N2 phosphatidylinositol glycan anchor biosynthesis class T 7.3E-10 0.633 0.615
PIGV Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 1.5E-08 0.636 0.615
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615