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: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 55857
Gene Symbol: KIZ
KIZ
Q2M2Z5 kizuna centrosomal protein 35 0.722 0.308 0.100 None 0 0
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.100 None 0 1
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: 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: 346007
Gene Symbol: EYS
EYS
Q5T1H1 eyes shut homolog 69 0.631 0.538 3.7E-41 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: 375298
Gene Symbol: CERKL
CERKL
Q49MI3 ceramide kinase like 50 0.678 0.308 9.8E-25 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 6101
Gene Symbol: RP1
RP1
P56715 RP1 axonemal microtubule associated 57 0.663 0.462 4.4E-13 0.100 None 0 0
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
Q3B820 FAM161 centrosomal protein A 42 0.691 0.308 5.1E-13 0.100 None 0 0
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
Q9P0W8 spermatogenesis associated 7 56 0.656 0.385 5.2E-13 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: 6452
Gene Symbol: SH3BP2
SH3BP2
P78314 SH3 domain binding protein 2 65 0.623 0.654 1.2E-11 0.100 None 0 0
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
P29973 cyclic nucleotide gated channel subunit alpha 1 Ion channel 40 0.695 0.269 2.8E-11 0.100 None 0 0
Entrez Id: 3420
Gene Symbol: IDH3B
IDH3B
O43837 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta Enzyme 41 0.700 0.462 3.0E-11 0.100 None 0 0
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
Q6ZWL3 cytochrome P450 family 4 subfamily V member 2 Enzyme 42 0.670 0.577 2.2E-10 0.100 None 0 0
Entrez Id: 5995
Gene Symbol: RGR
RGR
P47804 retinal G protein coupled receptor G-protein coupled receptor 43 0.691 0.385 2.4E-10 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: 282809
Gene Symbol: POC1B
POC1B
Q8TC44 POC1 centriolar protein B 40 0.705 0.385 3.0E-08 0.100 None 0 0
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 108 0.628 0.577 6.3E-08 0.100 None 0 0
Entrez Id: 4942
Gene Symbol: OAT
OAT
P04181 ornithine aminotransferase Enzyme 92 0.593 0.731 7.7E-07 0.100 None 0 0
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
Q9H9D4 zinc finger protein 408 42 0.678 0.269 1.2E-06 0.100 None 0 0