Disease: Difficulty walking
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
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
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
ATP13A2 Q9NQ11 ATPase cation transporting 13A2 9.0E-09 0.566 0.577
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BIN1 O00499 bridging integrator 1 0.78 0.550 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
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
DMD P11532 dystrophin 1.00 0.423 0.923
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
GABRG2 P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 0.74 0.548 0.654
GBA2 Q9HCG7 glucosylceramidase beta 2 2.0E-20 0.636 0.654
GJC2 Q5T442 gap junction protein gamma 2 Cell-cell junction 1.0E-02 0.593 0.692