Disease: Distal sensory impairment
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
ATP13A2 Q9NQ11 ATPase cation transporting 13A2 9.0E-09 0.566 0.577
BAG3 O95817 BAG cochaperone 3 0.62 0.498 0.846
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
FGD4 Q96M96 FYVE, RhoGEF and PH domain containing 4 Enzyme modulator 9.8E-03 0.678 0.462
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
JPH1 Q9HDC5 junctophilin 1 0.77 0.705 0.269
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
LMNA P02545 lamin A/C 1.00 0.384 0.885
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
MPZ P25189 myelin protein zero 0.27 0.503 0.846
PDK3 Q15120 pyruvate dehydrogenase kinase 3 Kinase 0.45 0.678 0.500
PIK3R5 Q8WYR1 phosphoinositide-3-kinase regulatory subunit 5 0.30 0.700 0.500
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
REEP1 Q9H902 receptor accessory protein 1 Transporter 0.99 0.653 0.423
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
SBF1 O95248 SET binding factor 1 Enzyme 1.00 0.700 0.500
SH3TC2 Q8TF17 SH3 domain and tetratricopeptide repeats 2 8.3E-16 0.666 0.385