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: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 165 0.559 0.655 1.9E-23 0.600 2 2 2009 2015
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
Q86SQ7 serologically defined colon cancer antigen 8 103 0.602 0.621 1.3E-11 0.400 1 0 2010 2010
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Q9P2H3 intraflagellar transport 80 78 0.642 0.517 8.0E-19 0.310 1.000 1 0 2007 2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 172 0.546 0.724 1.8E-54 0.310 1.000 1 0 2016 2016
Entrez Id: 3630
Gene Symbol: INS
INS
P01308 insulin 309 0.458 0.828 0.32 0.300 1 0 1999 1999
Entrez Id: 203286
Gene Symbol: ANKS6
ANKS6
Q68DC2 ankyrin repeat and sterile alpha motif domain containing 6 nucleic acid binding; transfer/carrier protein 32 0.681 0.276 7.6E-06 0.300 1 0 2013 2013
Entrez Id: 79633
Gene Symbol: FAT4
FAT4
Q6V0I7 FAT atypical cadherin 4 hydrolase; protease 156 0.572 0.724 1.00 0.300 1 0 2008 2008
Entrez Id: 80114
Gene Symbol: BICC1
BICC1
Q9H694 BicC family RNA binding protein 1 28 0.685 0.448 0.84 0.210 1.000 1 0 2014 2014
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
P50570 dynamin 2 cytoskeletal protein; enzyme modulator; hydrolase 155 0.540 0.655 1.00 0.200 0 0
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
O15230 laminin subunit alpha 5 enzyme modulator; extracellular matrix protein; receptor 22 0.720 0.345 1.00 0.200 0 0
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4
P54760 EPH receptor B4 91 0.569 0.586 3.6E-03 0.200 0 0
Entrez Id: 9353
Gene Symbol: SLIT2
SLIT2
O94813 slit guidance ligand 2 107 0.550 0.621 1.00 0.200 0 0
Entrez Id: 6091
Gene Symbol: ROBO1
ROBO1
Q9Y6N7 roundabout guidance receptor 1 88 0.575 0.586 9.8E-14 0.200 0 0
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
P98161 polycystin 1, transient receptor potential channel interacting 127 0.537 0.621 1.00 0.160 1.000 7 1 1997 2015
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
P49815 TSC complex subunit 2 enzyme modulator 290 0.463 0.690 1.00 0.130 0.667 3 0 1997 2015
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.579 0.690 3.4E-09 0.110 1.000 1 0 2004 2004
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
P05549 transcription factor AP-2 alpha transcription factor 228 0.502 0.655 0.99 0.110 1.000 1 0 2016 2016
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
Q02962 paired box 2 165 0.516 0.690 0.72 0.110 1.000 1 1 2000 2000
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
Q96RY7 intraflagellar transport 140 cytoskeletal protein 96 0.607 0.552 1.4E-22 0.110 1.000 1 0 2012 2012
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 155 0.559 0.621 2.6E-26 0.110 1.000 1 0 2009 2009
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 42 0.676 0.414 2.0E-12 0.110 1.000 1 0 2011 2011
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
Q8NEA6 GLIS family zinc finger 3 69 0.633 0.483 3.6E-07 0.110 1.000 1 0 2009 2009
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
P08F94 PKHD1, fibrocystin/polyductin 90 0.614 0.448 1.3E-47 0.100 1 2 2015 2015
Entrez Id: 11231
Gene Symbol: SEC63
SEC63
Q9UGP8 SEC63 homolog, protein translocation regulator chaperone 24 0.815 0.241 9.0E-06 0.100 0 0
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
Q9BPU9 B9 domain containing 2 extracellular matrix protein 53 0.663 0.448 5.6E-05 0.100 0 0