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: 100126595
Gene Symbol: MGS
MGS 		Mungan syndrome 7 0.839 0.269 0.010 None 1.000 1 0 2016 2016
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3719
Gene Symbol: JBS
JBS 		Jacobsen syndrome 9 0.792 0.385 0.010 None 1.000 1 0 2014 2014
Entrez Id: 465
Gene Symbol: ATD
ATD 		asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) 36 0.656 0.731 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6037
Gene Symbol: RNASE3
RNASE3 		P12724 ribonuclease A family member 3 207 0.490 0.808 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.310 limited 1.000 1 0 2009 2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		Q8TE73 dynein axonemal heavy chain 5 Enzyme 93 0.590 0.692 4.9E-64 0.300 limited 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.400 None 1.000 28 1 2006 2019
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8 		Q96JB1 dynein axonemal heavy chain 8 Enzyme 120 0.556 0.731 1.1E-60 0.300 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.030 None 1.000 3 0 2017 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.300 None 0 0
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		Q96DT5 dynein axonemal heavy chain 11 Enzyme 110 0.587 0.692 2.5E-58 0.300 limited 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		O95613 pericentrin 156 0.564 0.808 4.0E-58 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.320 None 1.000 2 0 2015 2019
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 136 0.555 0.731 1.1E-44 0.350 None 1.000 5 0 2011 2018
Entrez Id: 22981
Gene Symbol: NINL
NINL 		Q9Y2I6 ninein like 34 0.682 0.538 2.7E-39 0.010 None 1.000 1 0 2015 2015
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 125 0.572 0.731 3.2E-39 0.300 limited 0 0
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.300 limited 0 0
Entrez Id: 1063
Gene Symbol: CENPF
CENPF 		P49454 centromere protein F 76 0.601 0.654 1.9E-36 0.020 None 1.000 2 0 2015 2020
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.340 None 1.000 4 0 2014 2019
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		Q86UK5 EvC ciliary complex subunit 2 106 0.585 0.692 1.0E-34 0.310 None 1.000 1 0 2016 2016
Entrez Id: 26160
Gene Symbol: IFT172
IFT172 		Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.030 None 1.000 3 0 2015 2018
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.370 None 1.000 7 0 2007 2019
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4 		O75161 nephrocystin 4 46 0.674 0.423 1.7E-29 0.310 None 1.000 1 0 2007 2007
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-29 0.010 None 1.000 1 0 2014 2014