Disease: Difficulty walking
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
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
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
GJC2 Q5T442 gap junction protein gamma 2 Cell-cell junction 1.0E-02 0.593 0.692
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
HACE1 Q8IYU2 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Enzyme 6.1E-06 0.601 0.692
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
RNASEH2A O75792 ribonuclease H2 subunit A Enzyme 4.2E-03 0.592 0.692
RNASEH2B Q5TBB1 ribonuclease H2 subunit B 3.3E-09 0.595 0.615
RNASEH2C Q8TDP1 ribonuclease H2 subunit C 5.5E-03 0.590 0.731
SAMHD1 Q9Y3Z3 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 6.5E-13 0.547 0.769
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SLC13A5 Q86YT5 solute carrier family 13 member 5 Transporter 5.1E-04 0.608 0.577
SLC25A19 Q9HC21 solute carrier family 25 member 19 Transporter 0.65 0.653 0.577
SLC30A9 Q6PML9 solute carrier family 30 member 9 Transporter 4.7E-07 0.736 0.385
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TREX1 Q9NSU2 three prime repair exonuclease 1 0.58 0.517 0.808