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: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.500 None 0.976 42 5 1994 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.160 None 1.000 40 42 2006 2018
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
P15941 mucin 1, cell surface associated 594 0.384 0.885 1.9E-02 0.100 None 0.938 16 0 1998 2017
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Q7Z494 nephrocystin 3 93 0.597 0.654 9.8E-16 0.500 None 1.000 15 14 2001 2017
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
Q15051 IQ motif containing B1 69 0.641 0.654 1.4E-12 0.140 None 1.000 15 7 2005 2018
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
P07911 uromodulin 164 0.520 0.846 3.1E-17 0.100 None 0.923 13 0 1999 2016
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.110 None 1.000 8 14 2003 2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.430 None 1.000 7 4 2006 2012
Entrez Id: 30010
Gene Symbol: NXPH1
NXPH1
P58417 neurexophilin 1 Signaling 25 0.711 0.385 0.48 0.070 None 1.000 7 0 1994 2002
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.110 None 1.000 5 2 2002 2010
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.350 None 1.000 5 0 2006 2011
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.140 None 1.000 4 0 2007 2018
Entrez Id: 290
Gene Symbol: ANPEP
ANPEP
P15144 alanyl aminopeptidase, membrane Enzyme 280 0.462 0.769 3.7E-09 0.020 None 1.000 2 0 1993 1997
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.020 None 1.000 2 0 2011 2016
Entrez Id: 596
Gene Symbol: BCL2
BCL2
P10415 BCL2 apoptosis regulator Signaling 1456 0.291 0.885 0.56 0.020 None 1.000 2 0 1999 2007
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
O43707 actinin alpha 4 166 0.508 0.808 1.00 0.020 None 1.000 2 0 2014 2019
Entrez Id: 100506134
Gene Symbol: TTC21B-AS1
TTC21B-AS1
TTC21B antisense RNA 1 11 0.769 0.346 0.100 None 1.000 2 1 2011 2014
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.020 None 1.000 2 0 2011 2016
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
P30518 arginine vasopressin receptor 2 G-protein coupled receptor 134 0.568 0.769 0.56 0.010 None 1.000 1 1 2017 2017
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
Q9UHG0 doublecortin domain containing 2 128 0.546 0.769 5.7E-10 0.110 None 1.000 1 0 2020 2020
Entrez Id: 3552
Gene Symbol: IL1A
IL1A
P01583 interleukin 1 alpha 1002 0.333 0.962 1.6E-04 0.010 None 1.000 1 0 2020 2020
Entrez Id: 26146
Gene Symbol: TRAF3IP1
TRAF3IP1
Q8TDR0 TRAF3 interacting protein 1 32 0.695 0.423 1.9E-08 0.110 None 1.000 1 0 2015 2015
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
P01584 interleukin 1 beta 1801 0.276 0.962 0.13 0.010 None 1.000 1 0 2020 2020
Entrez Id: 3619
Gene Symbol: INCENP
INCENP
Q9NQS7 inner centromere protein 24 0.700 0.346 0.89 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
Q02962 paired box 2 216 0.495 0.731 0.67 0.010 None 1.000 1 0 2002 2002