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: 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: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
Q8TCX1 dynein cytoplasmic 2 light intermediate chain 1 Cellular structure 97 0.601 0.500 3.2E-09 0.400 None 0 5
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: 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: 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: 79770
Gene Symbol: TXNDC15
TXNDC15
Q96J42 thioredoxin domain containing 15 22 0.736 0.615 9.6E-03 0.100 None 0 2
Entrez Id: 2121
Gene Symbol: EVC
EVC
P57679 EvC ciliary complex subunit 1 104 0.587 0.577 3.5E-25 0.400 None 0 2
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.700 strong 1.000 22 1 1999 2019
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
P35453 homeobox D13 259 0.483 0.808 8.6E-03 0.450 strong 0.833 6 1 1995 2017
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 136 0.555 0.731 1.1E-44 0.430 None 1.000 4 1 2012 2018
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.430 strong 1.000 3 1 2002 2016
Entrez Id: 652
Gene Symbol: BMP4
BMP4
P12644 bone morphogenetic protein 4 Signaling 423 0.422 0.808 0.96 0.320 strong 1.000 3 1 2008 2011
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
Q9UPM9 B9 domain containing 1 Extracellular structure 107 0.572 0.692 2.8E-03 0.410 limited 1.000 2 1 2011 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.310 None 1.000 1 1 2007 2007
Entrez Id: 22858
Gene Symbol: CILK1
CILK1
Q9UPZ9 ciliogenesis associated kinase 1 Kinase 142 0.545 0.808 1.3E-05 0.300 None 1.000 1 1 2009 2009
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: 4089
Gene Symbol: SMAD4
SMAD4
Q13485 SMAD family member 4 Transcription factor 575 0.401 0.808 1.00 0.010 None 1.000 1 1 2020 2020
Entrez Id: 6608
Gene Symbol: SMO
SMO
Q99835 smoothened, frizzled class receptor G-protein coupled receptor 215 0.489 0.731 4.3E-07 0.400 strong 1.000 1 1 2016 2016
Entrez Id: 54965
Gene Symbol: PIGX
PIGX
Q8TBF5 phosphatidylinositol glycan anchor biosynthesis class X 16 0.780 0.308 2.4E-05 0.100 None 1.000 1 1 2018 2018
Entrez Id: 84984
Gene Symbol: CEP19
CEP19
Q96LK0 centrosomal protein 19 21 0.729 0.346 1.6E-02 0.100 None 1.000 1 1 2018 2018
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: 7480
Gene Symbol: WNT10B
WNT10B
O00744 Wnt family member 10B Signaling 90 0.576 0.654 3.6E-04 0.110 None 1.000 1 1 2020 2020
Entrez Id: 147965
Gene Symbol: FAM98C
FAM98C
Q17RN3 family with sequence similarity 98 member C 7 0.931 0.115 1.1E-07 0.100 None 0 1
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 0 1
Entrez Id: 27095
Gene Symbol: TRAPPC3
TRAPPC3
O43617 trafficking protein particle complex 3 9 0.792 0.385 0.25 0.100 None 0 1