Disease: Progressive cerebellar ataxia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
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
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN10 Q9UBB4 ataxin 10 3.5E-04 0.650 0.385
ATXN3 P54252 ataxin 3 Enzyme 0.11 0.521 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
C9orf72 Q96LT7 C9orf72-SMCR8 complex subunit 1.1E-06 0.496 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
COQ2 Q96H96 coenzyme Q2, polyprenyltransferase Enzyme 1.3E-03 0.590 0.731
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DKK1 O94907 dickkopf WNT signaling pathway inhibitor 1 0.17 0.439 0.885
EEF2 P13639 eukaryotic translation elongation factor 2 Enzyme 1.00 0.599 0.731
FUS P35637 FUS RNA binding protein Nucleic acid binding 1.00 0.470 0.846
FXN Q16595 frataxin Enzyme 0.34 0.510 0.654
GBA2 Q9HCG7 glucosylceramidase beta 2 2.0E-20 0.636 0.654
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
GJC2 Q5T442 gap junction protein gamma 2 Cell-cell junction 1.0E-02 0.593 0.692
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KIF1C O43896 kinesin family member 1C Cellular structure 0.72 0.700 0.500
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MTPAP Q9NVV4 mitochondrial poly(A) polymerase Enzyme 1.00 0.581 0.769
NDUFS1 P28331 NADH:ubiquinone oxidoreductase core subunit S1 Enzyme 6.6E-11 0.595 0.692