Disease: Blindness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AIP O00170 aryl hydrocarbon receptor interacting protein Chaperone 0.36 0.517 0.769
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
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
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CFH P08603 complement factor H 0.86 0.441 0.885
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654
CLN3 Q13286 CLN3 lysosomal/endosomal transmembrane protein, battenin Transporter 1.3E-07 0.572 0.692
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269
CLN6 Q9NWW5 CLN6 transmembrane ER protein 1.0E-04 0.670 0.231
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
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
IQCB1 Q15051 IQ motif containing B1 1.4E-12 0.641 0.654
MEN1 O00255 menin 1 1.00 0.444 0.808
MERTK Q12866 MER proto-oncogene, tyrosine kinase Kinase 2.7E-11 0.531 0.692
OAT P04181 ornithine aminotransferase Enzyme 7.7E-07 0.593 0.731
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808