Source: ALL
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: 289
Gene Symbol: ANOP1
ANOP1 		anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) 3 0.890 0.154 0.020 None 0.500 2 0 2002 2005
Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT 		SOX2 overlapping transcript 77 0.597 0.615 0.100 None 0 2
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: 158326
Gene Symbol: FREM1
FREM1 		Q5H8C1 FRAS1 related extracellular matrix 1 65 0.633 0.423 1.6E-52 0.100 None 0 0
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		Q86XX4 Fraser extracellular matrix complex subunit 1 122 0.560 0.577 3.1E-45 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-29 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 0
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.100 None 0 0
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		Q96SN8 CDK5 regulatory subunit associated protein 2 42 0.682 0.577 4.6E-23 0.010 None 1.000 1 0 2020 2020
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.010 None 1.000 1 0 2013 2013
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2 		Q96GX1 tectonic family member 2 109 0.578 0.654 1.8E-14 0.100 None 0 0
Entrez Id: 55165
Gene Symbol: CEP55
CEP55 		Q53EZ4 centrosomal protein 55 134 0.534 0.731 2.0E-12 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		Q5SZK8 FRAS1 related extracellular matrix 2 103 0.566 0.577 3.6E-11 0.100 None 0 0
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP 		O95876 WD repeat containing planar cell polarity effector 105 0.576 0.769 1.1E-10 0.100 None 0 0
Entrez Id: 64220
Gene Symbol: STRA6
STRA6 		Q9BX79 signaling receptor and transporter of retinol STRA6 100 0.597 0.731 1.5E-10 0.480 None 1.000 8 0 2007 2013
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		Q96M11 HYLS1 centriolar and ciliogenesis associated 119 0.572 0.692 2.3E-09 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		O15041 semaphorin 3E Signaling 184 0.515 0.769 8.7E-09 0.100 None 0 0
Entrez Id: 84197
Gene Symbol: POMK
POMK 		Q9H5K3 protein O-mannose kinase Kinase 101 0.590 0.500 1.9E-08 0.100 None 0 0