Disease: Talipes cavus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IBA57 Q5T440 iron-sulfur cluster assembly factor IBA57 8.4E-03 0.666 0.423
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KIF5A Q12840 kinesin family member 5A Cellular structure 1.00 0.593 0.731
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
NEFH P12036 neurofilament heavy 2.7E-12 0.588 0.769
NEFL P07196 neurofilament light 0.488 0.769
NIPA1 Q7RTP0 NIPA magnesium transporter 1 Transporter 5.9E-03 0.682 0.462
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
OPA3 Q9H6K4 outer mitochondrial membrane lipid metabolism regulator OPA3 0.57 0.653 0.385
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
REEP1 Q9H902 receptor accessory protein 1 Transporter 0.99 0.653 0.423
REEP2 Q9BRK0 receptor accessory protein 2 Transporter 0.44 0.792 0.269
RTN2 O75298 reticulon 2 0.42 0.711 0.385
RUSC2 Q8N2Y8 RUN and SH3 domain containing 2 1.00 0.729 0.269
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
SIGMAR1 Q99720 sigma non-opioid intracellular receptor 1 0.17 0.544 0.808
SLC33A1 O00400 solute carrier family 33 member 1 Transporter 9.9E-05 0.529 0.769
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885