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
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
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
ATN1 P54259 atrophin 1 1.00 0.409 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
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
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DAB1 O75553 DAB adaptor protein 1 Signaling 1.00 0.626 0.615
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
GOSR2 O14653 golgi SNAP receptor complex member 2 Transporter 4.7E-07 0.653 0.423
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
HTT P42858 huntingtin 1.00 0.548 0.654
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KCNA1 Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 7.6E-02 0.573 0.577
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577