Disease: Myoclonus
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNF tRNA 0.582 0.731
TRNK tRNA 0.608 0.577
TRNL1 tRNA 0.534 0.731
TRNP tRNA 0.792 0.423
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808
TRAK1 Q9UPV9 trafficking kinesin protein 1 Transporter 3.7E-04 0.674 0.423
SLC13A5 Q86YT5 solute carrier family 13 member 5 Transporter 5.1E-04 0.608 0.577
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
PGAP3 Q96FM1 post-GPI attachment to proteins phospholipase 3 1.9E-03 0.628 0.731
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
PLPBP O94903 pyridoxal phosphate binding protein 4.0E-02 0.736 0.231
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
PRRT2 Q7Z6L0 proline rich transmembrane protein 2 0.58 0.448 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500