Disease: Familial (FPAH)
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
LGI2 Q8N0V4 leucine rich repeat LGI family member 2 1.5E-06 0.839 0.077
SLC4A3 P48751 solute carrier family 4 member 3 Transporter 1.2E-05 0.751 0.154
FCMTE1 familial cortical myoclonic tremor with epilepsy 1 0.769 0.231
GRIN3B O60391 glutamate ionotropic receptor NMDA type subunit 3B Ion channel 2.0E-07 0.792 0.231
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
FCMTE2 familial cortical myoclonic tremor with epilepsy 2 0.743 0.231
RAPGEF2 Q9Y4G8 Rap guanine nucleotide exchange factor 2 Enzyme modulator 1.00 0.716 0.269
HCN4 Q9Y3Q4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 Ion channel 1.00 0.617 0.269
SAMD12 Q8N8I0 sterile alpha motif domain containing 12 1.2E-03 0.700 0.269
ARHGEF15 O94989 Rho guanine nucleotide exchange factor 15 1.7E-06 0.760 0.308
CPA6 Q8N4T0 carboxypeptidase A6 Enzyme 4.4E-17 0.716 0.346
GABRA5 P31644 gamma-aminobutyric acid type A receptor subunit alpha5 Ion channel 0.91 0.621 0.385
SHC2 P98077 SHC adaptor protein 2 Signaling 2.1E-14 0.729 0.385
CCM2 Q9BSQ5 CCM2 scaffold protein 9.3E-03 0.636 0.385
TGM6 O95932 transglutaminase 6 1.1E-24 0.644 0.423
GRIK1 P39086 glutamate ionotropic receptor kainate type subunit 1 Ion channel 1.2E-09 0.641 0.462
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
NIPA1 Q7RTP0 NIPA magnesium transporter 1 Transporter 5.9E-03 0.682 0.462
GLRA1 P23415 glycine receptor alpha 1 Ion channel 1.6E-04 0.628 0.500
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
A1BG P04217 alpha-1-B glycoprotein Receptor 5.0E-09 0.700 0.538
SCN1B Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 0.10 0.575 0.538
SGCE O43556 sarcoglycan epsilon Calcium-binding protein 2.4E-02 0.626 0.538
DEPDC5 O75140 DEP domain containing 5, GATOR1 subcomplex subunit Nucleic acid binding 0.12 0.631 0.538
COTL1 Q14019 coactosin like F-actin binding protein 1 Cellular structure 3.9E-02 0.615 0.538