Disease: Optic Atrophy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP8A2 Q9NTI2 ATPase phospholipid transporting 8A2 Transporter 1.2E-12 0.659 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ATXN3 P54252 ataxin 3 Enzyme 0.11 0.521 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
BCAP31 P51572 B cell receptor associated protein 31 Transporter 0.43 0.579 0.808
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
EIF2B5 Q13144 eukaryotic translation initiation factor 2B subunit epsilon 6.4E-02 0.615 0.769
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654
FLVCR1 Q9Y5Y0 FLVCR heme transporter 1 Transporter 1.3E-03 0.529 0.885