Disease: Visual Impairment
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ANTXR1 Q9H6X2 ANTXR cell adhesion molecule 1 Receptor 0.99 0.584 0.731
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BLOC1S3 Q6QNY0 biogenesis of lysosomal organelles complex 1 subunit 3 4.1E-03 0.729 0.385
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654
C8orf37 Q96NL8 chromosome 8 open reading frame 37 2.4E-05 0.628 0.538
CABP4 P57796 calcium binding protein 4 1.7E-10 0.711 0.154
CACNA1F O60840 calcium voltage-gated channel subunit alpha1 F Ion channel 1.2E-05 0.595 0.500
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
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
ELN P15502 elastin 2.1E-14 0.415 0.885
ENPP1 P22413 ectonucleotide pyrophosphatase/phosphodiesterase 1 Enzyme 5.0E-08 0.498 0.808
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846