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: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.400 None 0.976 82 20 1998 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.400 None 0.982 57 26 1999 2019
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.700 None 0.974 38 26 1966 2020
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.400 None 1.000 30 17 1997 2019
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
Q6UX98 zinc finger DHHC-type containing 24 30 0.722 0.462 4.2E-04 0.100 None 1.000 25 18 2002 2019
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.400 None 0.957 23 9 2000 2019
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.180 None 1.000 15 13 2007 2019
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Q8IWZ6 Bardet-Biedl syndrome 7 47 0.682 0.462 7.1E-09 0.200 None 0.933 15 9 2003 2020
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Q13049 tripartite motif containing 32 113 0.587 0.769 1.7E-03 0.190 None 1.000 13 3 2002 2019
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.180 None 1.000 11 7 1999 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.500 None 1.000 10 1 2008 2019
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.180 None 1.000 9 17 2005 2019
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.740 None 1.000 5 2 2004 2012
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
Q9NQ48 leucine zipper transcription factor like 1 64 0.638 0.692 5.9E-02 0.640 None 1.000 5 2 2012 2019
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2
O75129 astrotactin 2 51 0.666 0.462 1.00 0.100 None 1.000 4 3 2002 2013
Entrez Id: 123016
Gene Symbol: TTC8
TTC8
Q8TAM2 tetratricopeptide repeat domain 8 72 0.631 0.500 1.2E-06 0.340 None 1.000 4 2 2003 2011
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
Q9BW83 intraflagellar transport 27 45 0.670 0.462 5.9E-06 0.420 None 1.000 3 2 2014 2019
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.330 None 1.000 3 0 2015 2019
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
Q9BUN5 coiled-coil domain containing 28B Receptor 55 0.659 0.538 3.2E-09 0.030 None 1.000 3 0 2006 2018
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1
A8MTZ0 BBSome interacting protein 1 37 0.695 0.423 4.2E-03 0.610 None 1.000 2 1 2013 2014
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.320 None 1.000 2 1 2014 2017
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
Q96NL8 chromosome 8 open reading frame 37 86 0.628 0.538 2.4E-05 0.320 None 1.000 2 0 2016 2016
Entrez Id: 3952
Gene Symbol: LEP
LEP
P41159 leptin 931 0.349 0.846 0.46 0.020 None 1.000 2 0 2011 2012
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
Q9NZ71 regulator of telomere elongation helicase 1 Enzyme 321 0.459 0.808 8.9E-10 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9638
Gene Symbol: FEZ1
FEZ1
Q99689 fasciculation and elongation protein zeta 1 41 0.666 0.500 0.75 0.010 None 1.000 1 0 2005 2005