Disease: Ataxia, Truncal
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB7 O75027 ATP binding cassette subfamily B member 7 Transporter 1.00 0.678 0.385
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
ARCN1 P48444 archain 1 Transporter 1.00 0.705 0.462
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA2D2 Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 1.00 0.626 0.615
CACNB4 O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 3.1E-02 0.653 0.231
CP P00450 ceruloplasmin Enzyme 4.2E-10 0.466 0.846
EEF2 P13639 eukaryotic translation elongation factor 2 Enzyme 1.00 0.599 0.731
EGR3 Q06889 early growth response 3 Nucleic acid binding 0.95 0.599 0.731
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
GABRA4 P48169 gamma-aminobutyric acid type A receptor subunit alpha4 Ion channel 0.78 0.751 0.308
GRID2 O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 1.00 0.670 0.500
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
MSTO1 Q9BUK6 misato mitochondrial distribution and morphology regulator 1 1.6E-09 0.582 0.692
NOP56 O00567 NOP56 ribonucleoprotein Nucleic acid binding 0.62 0.663 0.538
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
SPTBN2 O15020 spectrin beta, non-erythrocytic 2 9.9E-05 0.619 0.731
UROC1 Q96N76 urocanate hydratase 1 2.1E-15 0.780 0.385