Disease: Cerebellar Ataxia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
KCND3 Q9UK17 potassium voltage-gated channel subfamily D member 3 Ion channel 0.99 0.619 0.615
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
CACNA2D2 Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 1.00 0.626 0.615
KLHL1 Q9NR64 kelch like family member 1 7.2E-07 0.569 0.654
PCDH12 Q9NPG4 protocadherin 12 2.9E-13 0.722 0.346
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ABCA2 Q9BZC7 ATP binding cassette subfamily A member 2 Transporter 1.00 0.670 0.615
GAD1 Q99259 glutamate decarboxylase 1 Enzyme 4.6E-02 0.486 0.885
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
NLRP3 Q96P20 NLR family pyrin domain containing 3 8.1E-04 0.361 0.962
PRICKLE1 Q96MT3 prickle planar cell polarity protein 1 Cellular structure 1.00 0.647 0.615
C9orf72 Q96LT7 C9orf72-SMCR8 complex subunit 1.1E-06 0.496 0.769
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
HOMER1 Q86YM7 homer scaffold protein 1 1.00 0.636 0.538
PRRT2 Q7Z6L0 proline rich transmembrane protein 2 0.58 0.448 0.808