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: 57096
Gene Symbol: RPGRIP1
RPGRIP1
Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.130 None 1.000 3 1 2005 2008
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 340 0.450 0.769 1.00 0.110 None 1.000 1 1 2012 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.100 None 1.000 1 1 2014 2014
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
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 3
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.100 None 0 1
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
P84243 H3.3 histone A 134 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
Q9ULH0 kinase D interacting substrate 220 145 0.534 0.769 7.4E-02 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
Q9H8P0 steroid 5 alpha-reductase 3 99 0.604 0.692 2.5E-04 0.100 None 0 1
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
Q9GZN7 rogdi atypical leucine zipper 61 0.663 0.462 2.6E-09 0.100 None 0 2
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 1
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
P35227 polycomb group ring finger 2 114 0.579 0.615 0.86 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 448 0.434 0.846 1.00 0.100 None 0 1
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 281 0.485 0.769 4.5E-08 0.100 None 0 1
Entrez Id: 27095
Gene Symbol: TRAPPC3
TRAPPC3
O43617 trafficking protein particle complex 3 9 0.792 0.385 0.25 0.100 None 0 1
Entrez Id: 26610
Gene Symbol: ELP4
ELP4
Q96EB1 elongator acetyltransferase complex subunit 4 36 0.666 0.462 1.2E-07 0.100 None 0 1
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 98 0.631 0.577 1.00 0.100 None 0 1
Entrez Id: 8224
Gene Symbol: SYN3
SYN3
O14994 synapsin III Cellular structure 38 0.686 0.462 1.9E-03 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1
O75352 mannose-P-dolichol utilization defect 1 45 0.682 0.500 1.0E-05 0.100 None 0 1
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 106 0.590 0.654 5.3E-10 0.100 None 0 1
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 2
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 2