Disease: Low Vision
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
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
CD40LG P29965 CD40 ligand Signaling 0.72 0.414 0.846
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
CRH P06850 corticotropin releasing hormone Signaling 0.72 0.439 0.808
CSF2 P04141 colony stimulating factor 2 Signaling 0.83 0.330 0.962
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
LRRK2 Q5S007 leucine rich repeat kinase 2 Kinase 2.6E-30 0.510 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846
PEX11B O96011 peroxisomal biogenesis factor 11 beta 1.3E-04 0.612 0.654
PRRT2 Q7Z6L0 proline rich transmembrane protein 2 0.58 0.448 0.808
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
TBP P20226 TATA-box binding protein Transcription factor 1.5E-02 0.552 0.846
TCIRG1 Q13488 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Transporter 2.4E-13 0.565 0.692
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846