Disease: Low Vision
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
MYOC Q99972 myocilin Cellular structure 7.6E-12 0.595 0.500
HTRA1 Q92743 HtrA serine peptidase 1 Enzyme 4.9E-04 0.532 0.692
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
CLDN19 Q8N6F1 claudin 19 Cell-cell junction 5.0E-03 0.659 0.423
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
TRPM1 Q7Z4N2 transient receptor potential cation channel subfamily M member 1 Ion channel 1.6E-42 0.626 0.462
CCDC102B Q68D86 coiled-coil domain containing 102B 3.2E-16 0.821 0.154
PHLDA2 Q53GA4 pleckstrin homology like domain family A member 2 0.15 0.636 0.615
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
SERPINF1 P36955 serpin family F member 1 Enzyme modulator 7.8E-08 0.460 0.846
TIMP3 P35625 TIMP metallopeptidase inhibitor 3 Enzyme modulator 0.63 0.445 0.923
EPHA2 P29317 EPH receptor A2 Kinase 1.1E-05 0.501 0.731
PAX6 P26367 paired box 6 1.00 0.450 0.769
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654
VEGFA P15692 vascular endothelial growth factor A Signaling 2.4E-05 0.266 0.923
ERG P11308 ETS transcription factor ERG Transcription factor 0.96 0.453 0.808
CFH P08603 complement factor H 0.86 0.441 0.885