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
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
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
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
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
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
CNPY3 Q9BT09 canopy FGF signaling regulator 3 0.40 0.805 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
CUX2 O14529 cut like homeobox 2 Transcription factor 1.00 0.644 0.500
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DENND5A Q6IQ26 DENN domain containing 5A 5.8E-02 0.821 0.115
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692