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
ANO10 Q9NW15 anoctamin 10 1.0E-14 0.663 0.500
ATN1 P54259 atrophin 1 1.00 0.409 0.885
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN10 Q9UBB4 ataxin 10 3.5E-04 0.650 0.385
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
FXN Q16595 frataxin Enzyme 0.34 0.510 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
GRID2 O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 1.00 0.670 0.500
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KIF1C O43896 kinesin family member 1C Cellular structure 0.72 0.700 0.500
MARS2 Q96GW9 methionyl-tRNA synthetase 2, mitochondrial Enzyme 5.4E-05 0.682 0.538
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
MSTO1 Q9BUK6 misato mitochondrial distribution and morphology regulator 1 1.6E-09 0.582 0.692
NDUFAF2 Q8N183 NADH:ubiquinone oxidoreductase complex assembly factor 2 2.1E-06 0.641 0.577
NFASC O94856 neurofascin 1.00 0.682 0.423
PDYN P01213 prodynorphin Signaling 1.7E-04 0.535 0.577
PMPCA Q10713 peptidase, mitochondrial processing subunit alpha Enzyme 3.4E-11 0.633 0.577
PPP2R2B Q00005 protein phosphatase 2 regulatory subunit Bbeta Enzyme 0.98 0.601 0.577