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: 100996465
Gene Symbol: LCA10
LCA10 		lung carcinoma-associated 10 7 0.839 0.308 1.6E-04 0.010 None 1.000 1 0 2018 2018
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: 79989
Gene Symbol: TTC26
TTC26 		A0AVF1 tetratricopeptide repeat domain 26 2 1.000 0.038 2.4E-08 0.010 None 1.000 1 0 2019 2019
Entrez Id: 137392
Gene Symbol: FAM92A
FAM92A 		A1XBS5 family with sequence similarity 92 member A 17 0.729 0.308 5.8E-08 0.310 None 1.000 1 0 2019 2019
Entrez Id: 388939
Gene Symbol: PCARE
PCARE 		A6NGG8 photoreceptor cilium actin regulator 49 0.674 0.346 3.0E-18 0.300 limited 0 0
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS 		D6RGH6 multiciliate differentiation and DNA synthesis associated cell cycle protein 119 0.566 0.769 1.3E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7044
Gene Symbol: LEFTY2
LEFTY2 		O00292 left-right determination factor 2 Signaling 18 0.736 0.231 2.9E-04 0.300 limited 0 0
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		O00294 TUB like protein 1 80 0.623 0.462 5.7E-04 0.310 limited 1.000 1 0 2014 2014
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD 		O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1119 0.319 0.885 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3839
Gene Symbol: KPNA3
KPNA3 		O00505 karyopherin subunit alpha 3 Transporter 20 0.736 0.500 0.95 0.010 None 1.000 1 0 2017 2017
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: 4867
Gene Symbol: NPHP1
NPHP1 		O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.330 None 1.000 3 0 2007 2014
Entrez Id: 1406
Gene Symbol: CRX
CRX 		O43186 cone-rod homeobox Transcription factor 128 0.565 0.692 0.51 0.300 limited 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		O43505 beta-1,4-glucuronyltransferase 1 84 0.590 0.538 6.9E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8740
Gene Symbol: TNFSF14
TNFSF14 		O43557 TNF superfamily member 14 Signaling 143 0.529 0.769 5.2E-02 0.010 None 1.000 1 0 2013 2013
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410 		O43822 cilia and flagella associated protein 410 73 0.633 0.615 3.3E-07 0.020 None 1.000 2 0 2015 2015
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		O43924 phosphodiesterase 6D Enzyme 79 0.623 0.577 6.4E-03 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9731
Gene Symbol: CEP104
CEP104 		O60308 centrosomal protein 104 51 0.670 0.423 1.2E-12 0.020 None 1.000 2 0 2017 2019
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		O60481 Zic family member 3 Transcription factor 93 0.587 0.423 0.92 0.300 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 231 0.502 0.808 7.0E-10 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		O60928 potassium inwardly rectifying channel subfamily J member 13 Ion channel 59 0.659 0.308 1.4E-02 0.300 limited 0 0
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