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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
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: 5314
Gene Symbol: PKHD1
PKHD1 		P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.110 None 1.000 1 0 2012 2012
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 136 0.555 0.731 1.1E-44 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: 4437
Gene Symbol: MSH3
MSH3 		P20585 mutS homolog 3 Nucleic acid binding 245 0.474 0.769 7.4E-31 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: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		Q96RY7 intraflagellar transport 140 Cellular structure 124 0.572 0.692 9.9E-24 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22 		Q9Y2R2 protein tyrosine phosphatase non-receptor type 22 400 0.438 0.846 3.5E-21 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		Q9P2H3 intraflagellar transport 80 109 0.575 0.692 1.4E-19 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 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: 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: 5889
Gene Symbol: RAD51C
RAD51C 		O43502 RAD51 paralog C 162 0.533 0.692 6.2E-14 0.100 None 0 0
Entrez Id: 640
Gene Symbol: BLK
BLK 		P51451 BLK proto-oncogene, Src family tyrosine kinase Kinase 86 0.585 0.769 8.3E-14 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 0 0
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237 		Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 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: 55112
Gene Symbol: WDR60
WDR60 		Q8WVS4 WD repeat domain 60 Cellular structure 91 0.592 0.654 4.3E-12 0.100 None 0 0
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8 		Q86SQ7 serologically defined colon cancer antigen 8 90 0.619 0.577 1.2E-11 0.100 None 0 0
Entrez Id: 5027
Gene Symbol: P2RX7
P2RX7 		Q99572 purinergic receptor P2X 7 Ion channel 337 0.450 0.808 3.3E-11 0.010 None 1.000 1 0 2004 2004