Disease: Retinal Dystrophies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
C8orf37 Q96NL8 chromosome 8 open reading frame 37 2.4E-05 0.628 0.538
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CDHR1 Q96JP9 cadherin related family member 1 2.8E-21 0.670 0.308
CEP164 Q9UPV0 centrosomal protein 164 4.8E-27 0.711 0.462
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
GUCA1A P43080 guanylate cyclase activator 1A 4.1E-04 0.647 0.500
IFT140 Q96RY7 intraflagellar transport 140 Cellular structure 9.9E-24 0.572 0.692
INVS Q9Y283 inversin 5.6E-18 0.619 0.538
IQCB1 Q15051 IQ motif containing B1 1.4E-12 0.641 0.654
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
MERTK Q12866 MER proto-oncogene, tyrosine kinase Kinase 2.7E-11 0.531 0.692
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
NPHP3 Q7Z494 nephrocystin 3 9.8E-16 0.597 0.654
NPHP4 O75161 nephrocystin 4 1.7E-29 0.674 0.423
PCYT1A P49585 phosphate cytidylyltransferase 1, choline, alpha 2.0E-05 0.485 0.885
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
PRPH2 P23942 peripherin 2 0.12 0.551 0.500
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
RHO P08100 rhodopsin G-protein coupled receptor 1.3E-04 0.525 0.769
RLBP1 P12271 retinaldehyde binding protein 1 Transporter 1.1E-05 0.644 0.500
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692