Disease: Myoclonus
Source: INFERRED ×
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
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
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
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTNND2 Q9UQB3 catenin delta 2 Cellular structure 1.00 0.579 0.731
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
HTT P42858 huntingtin 1.00 0.548 0.654
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
PLPBP O94903 pyridoxal phosphate binding protein 4.0E-02 0.736 0.231
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923