Disease: Low Vision
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MYP2 myopia 2 (high grade, autosomal dominant) 0.659 0.308
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PLXNA2 O75051 plexin A2 1.1E-06 0.447 0.808
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
OAT P04181 ornithine aminotransferase Enzyme 7.7E-07 0.593 0.731
CFH P08603 complement factor H 0.86 0.441 0.885
ERG P11308 ETS transcription factor ERG Transcription factor 0.96 0.453 0.808
VEGFA P15692 vascular endothelial growth factor A Signaling 2.4E-05 0.266 0.923
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654
PAX6 P26367 paired box 6 1.00 0.450 0.769
EPHA2 P29317 EPH receptor A2 Kinase 1.1E-05 0.501 0.731
TIMP3 P35625 TIMP metallopeptidase inhibitor 3 Enzyme modulator 0.63 0.445 0.923
SERPINF1 P36955 serpin family F member 1 Enzyme modulator 7.8E-08 0.460 0.846
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
PHLDA2 Q53GA4 pleckstrin homology like domain family A member 2 0.15 0.636 0.615
CCDC102B Q68D86 coiled-coil domain containing 102B 3.2E-16 0.821 0.154
TRPM1 Q7Z4N2 transient receptor potential cation channel subfamily M member 1 Ion channel 1.6E-42 0.626 0.462
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769