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: 8842
Gene Symbol: PROM1
PROM1
O43490 prominin 1 Transporter 477 0.410 0.846 1.9E-22 0.300 limited 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.320 None 1.000 2 0 2011 2019
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Q9P2H3 intraflagellar transport 80 109 0.575 0.692 1.4E-19 0.500 None 1.000 1 0 2007 2007
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
Q4AC94 C2 domain containing 3 centriole elongation regulator 59 0.636 0.538 4.4E-19 0.300 None 0 0
Entrez Id: 4311
Gene Symbol: MME
MME
P08473 membrane metalloendopeptidase Enzyme 470 0.407 0.808 1.5E-18 0.010 None 1.000 1 0 2017 2017
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.420 strong 1.000 2 3 2005 2011
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.400 strong 0 4
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
Q7Z3E5 armadillo repeat containing 9 80 0.612 0.731 6.2E-17 0.010 None 1.000 1 0 2018 2018
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.410 strong 1.000 1 2 1998 1998
Entrez Id: 6295
Gene Symbol: SAG
SAG
P10523 S-antigen visual arrestin Enzyme modulator 97 0.570 0.731 1.5E-16 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.430 None 1.000 4 5 2002 2013
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
Q9Y6C5 patched 2 114 0.563 0.692 3.4E-16 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.510 None 1.000 3 0 2004 2015
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Q7Z494 nephrocystin 3 93 0.597 0.654 9.8E-16 0.300 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.300 None 0 0
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
Q96GX1 tectonic family member 2 109 0.578 0.654 1.8E-14 0.300 None 1.000 1 0 2011 2011
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
P08151 GLI family zinc finger 1 369 0.431 0.846 7.7E-14 0.020 None 1.000 2 0 2019 2019
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.300 limited 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.020 None 1.000 2 0 1999 2003
Entrez Id: 80173
Gene Symbol: IFT74
IFT74
Q96LB3 intraflagellar transport 74 18 0.716 0.423 5.7E-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 0.410 strong 1.000 1 1 2010 2010
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 0.300 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.400 strong 1.000 1 1 2001 2001
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
Q6NUS6 tectonic family member 3 136 0.566 0.615 4.2E-12 0.400 None 1.000 1 0 2012 2012