Disease: Nystagmus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
ATN1 P54259 atrophin 1 1.00 0.409 0.885
COX10 Q12887 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 Enzyme 8.4E-02 0.623 0.654
COX15 Q7KZN9 cytochrome c oxidase assembly homolog COX15 1.1E-13 0.638 0.538
DARS1 P14868 aspartyl-tRNA synthetase 1 Enzyme 8.5E-06 0.711 0.500
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DEGS1 O15121 delta 4-desaturase, sphingolipid 1 0.14 0.621 0.731
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846
EPRS1 P07814 glutamyl-prolyl-tRNA synthetase 1 Enzyme 1.0E-09 0.644 0.538
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654
FOXRED1 Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 2.0E-16 0.633 0.462
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
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
GLRX5 Q86SX6 glutaredoxin 5 Enzyme 0.75 0.659 0.538