Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 50
Gene Symbol: ACO2
ACO2
Q99798 aconitase 2 Enzyme 74 0.619 0.654 0.21 0.100 None 0 0
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
P18850 activating transcription factor 6 179 0.516 0.846 3.2E-07 0.100 None 0 0
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
O00203 adaptor related protein complex 3 subunit beta 1 Transporter 83 0.619 0.808 0.62 0.100 None 0 0
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP
Q9Y2Y0 ADP ribosylation factor like GTPase 2 binding protein 69 0.647 0.654 3.3E-05 0.100 None 0 0
Entrez Id: 403
Gene Symbol: ARL3
ARL3
P36405 ADP ribosylation factor like GTPase 3 95 0.603 0.615 1.4E-03 0.100 None 0 0
Entrez Id: 196
Gene Symbol: AHR
AHR
P35869 aryl hydrocarbon receptor Transcription factor 532 0.410 0.923 1.00 0.100 None 0 0
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 65 0.644 0.346 1.2E-05 0.100 None 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
P78363 ATP binding cassette subfamily A member 4 Transporter 227 0.493 0.769 5.3E-48 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
O95255 ATP binding cassette subfamily C member 6 Transporter 181 0.540 0.654 5.6E-35 0.100 None 0 0
Entrez Id: 326
Gene Symbol: AIRE
AIRE
O43918 autoimmune regulator 175 0.516 0.808 4.0E-12 0.100 None 0 0
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.100 None 0 1
Entrez Id: 388552
Gene Symbol: BLOC1S3
BLOC1S3
Q6QNY0 biogenesis of lysosomal organelles complex 1 subunit 3 32 0.729 0.385 4.1E-03 0.100 None 0 0
Entrez Id: 11261
Gene Symbol: CHP1
CHP1
Q99653 calcineurin like EF-hand protein 1 141 0.546 0.769 0.63 0.100 None 0 0
Entrez Id: 57010
Gene Symbol: CABP4
CABP4
P57796 calcium binding protein 4 29 0.711 0.154 1.7E-10 0.100 None 0 0
Entrez Id: 93589
Gene Symbol: CACNA2D4
CACNA2D4
Q7Z3S7 calcium voltage-gated channel auxiliary subunit alpha2delta 4 Ion channel 33 0.716 0.269 1.5E-34 0.100 None 0 0
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
O60840 calcium voltage-gated channel subunit alpha1 F Ion channel 81 0.595 0.500 1.2E-05 0.100 None 0 0
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 80 0.626 0.538 0.74 0.100 None 1.000 1 1 2017 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7
P51798 chloride voltage-gated channel 7 Ion channel 135 0.590 0.731 0.27 0.100 None 0 0
Entrez Id: 91851
Gene Symbol: CHRDL1
CHRDL1
Q9BU40 chordin like 1 41 0.659 0.538 0.22 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 65 0.678 0.346 0.21 0.100 None 0 0
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
Q96NL8 chromosome 8 open reading frame 37 86 0.628 0.538 2.4E-05 0.100 None 0 0
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
P58418 clarin 1 77 0.633 0.423 1.7E-08 0.100 None 0 0
Entrez Id: 1406
Gene Symbol: CRX
CRX
O43186 cone-rod homeobox Transcription factor 128 0.565 0.692 0.51 0.100 None 0 0