Disease: Myoclonus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
ANO3 Q9BYT9 anoctamin 3 1.2E-17 0.716 0.385
APOE P02649 apolipoprotein E 1.9E-03 0.338 0.962
ARV1 Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 3.6E-06 0.691 0.423
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
ATP13A2 Q9NQ11 ATPase cation transporting 13A2 9.0E-09 0.566 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
C9orf72 Q96LT7 C9orf72-SMCR8 complex subunit 1.1E-06 0.496 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CACNA1E Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 1.00 0.650 0.577
CARS2 Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 9.6E-08 0.700 0.423
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731