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: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.500 None 1.000 3 0 2008 2010
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423
Q2M1K9 zinc finger protein 423 97 0.592 0.808 1.00 0.500 None 1.000 1 0 2012 2012
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
Q9NPI0 transmembrane protein 138 52 0.656 0.385 4.7E-02 0.500 None 1.000 1 0 2012 2012
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.500 None 1.000 1 0 2012 2012
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 0.500 None 1.000 1 0 2011 2011
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
Q9P0N5 transmembrane protein 216 154 0.544 0.615 1.9E-03 0.300 None 1.000 2 0 2010 2010
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.300 None 0 0
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
O75161 nephrocystin 4 46 0.674 0.423 1.7E-29 0.020 None 1.000 2 0 2007 2014
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.010 None 1.000 1 0 2007 2007
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.010 None 1.000 1 0 2007 2007
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.010 None 1.000 1 0 2007 2007