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: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 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 0.100 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: 9652
Gene Symbol: TTC37
TTC37 		Q6PGP7 tetratricopeptide repeat domain 37 91 0.626 0.654 1.7E-29 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: 199221
Gene Symbol: DZIP1L
DZIP1L 		Q8IYY4 DAZ interacting zinc finger protein 1 like Nucleic acid binding 21 0.769 0.308 2.4E-25 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: 4125
Gene Symbol: MAN2B1
MAN2B1 		O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		P11055 myosin heavy chain 3 160 0.563 0.654 6.7E-21 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		P98160 heparan sulfate proteoglycan 2 Enzyme modulator 405 0.438 0.885 1.0E-19 0.100 None 0 0
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		P07510 cholinergic receptor nicotinic gamma subunit Ion channel 124 0.573 0.692 3.3E-19 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: 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: 26154
Gene Symbol: ABCA12
ABCA12 		Q86UK0 ATP binding cassette subfamily A member 12 Transporter 85 0.610 0.654 2.9E-15 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		P12955 peptidase D Enzyme 113 0.621 0.769 1.5E-14 0.100 None 0 0
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: 259232
Gene Symbol: NALCN
NALCN 		Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.100 None 0 0
Entrez Id: 8516
Gene Symbol: ITGA8
ITGA8 		P53708 integrin subunit alpha 8 46 0.641 0.577 6.1E-13 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: 26123
Gene Symbol: TCTN3
TCTN3 		Q6NUS6 tectonic family member 3 136 0.566 0.615 4.2E-12 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: 701
Gene Symbol: BUB1B
BUB1B 		O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 231 0.502 0.808 7.0E-10 0.100 None 0 0