Disease: Myoclonus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
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
ATAD1 Q8NBU5 ATPase family AAA domain containing 1 1.3E-03 0.545 0.692
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
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
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
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
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
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731