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: 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 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 0 0
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
Q9H324 ADAM metallopeptidase with thrombospondin type 1 motif 10 Enzyme 67 0.641 0.500 0.84 0.100 None 0 0
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 125 0.572 0.731 3.2E-39 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 0
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
Q96EG1 arylsulfatase G Enzyme 48 0.666 0.423 6.4E-10 0.100 None 0 0
Entrez Id: 443
Gene Symbol: ASPA
ASPA
P45381 aspartoacylase 123 0.564 0.731 4.1E-04 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
O15265 ataxin 7 162 0.581 0.654 0.96 0.100 None 0 0
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
Q92560 BRCA1 associated protein 1 Enzyme 299 0.454 0.731 0.99 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
Q6W2J9 BCL6 corepressor 314 0.471 0.808 1.00 0.100 None 0 0
Entrez Id: 686
Gene Symbol: BTD
BTD
P43251 biotinidase Enzyme 90 0.628 0.654 1.5E-07 0.100 None 0 0
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
Q9BXJ0 C1q and TNF related 5 45 0.663 0.346 0.84 0.100 None 0 0
Entrez Id: 760
Gene Symbol: CA2
CA2
P00918 carbonic anhydrase 2 210 0.506 0.808 1.7E-06 0.100 None 0 0
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Q9H251 cadherin related 23 203 0.539 0.769 3.2E-06 0.100 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.100 None 0 0
Entrez Id: 95681
Gene Symbol: CEP41
CEP41
Q9BYV8 centrosomal protein 41 69 0.636 0.500 3.6E-06 0.100 None 0 0
Entrez Id: 84131
Gene Symbol: CEP78
CEP78
Q5JTW2 centrosomal protein 78 40 0.686 0.346 6.2E-12 0.100 None 0 0
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
O75838 calcium and integrin binding family member 2 125 0.545 0.808 1.4E-03 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: 7401
Gene Symbol: CLRN1
CLRN1
P58418 clarin 1 77 0.633 0.423 1.7E-08 0.100 None 0 0
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
P39060 collagen type XVIII alpha 1 chain 323 0.449 0.808 1.7E-10 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.100 None 0 0