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: 80781
Gene Symbol: COL18A1
COL18A1
P39060 collagen type XVIII alpha 1 chain 323 0.449 0.808 1.7E-10 0.120 None 1.000 2 0 2005 2017
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.110 None 1.000 1 0 2019 2019
Entrez Id: 6599
Gene Symbol: SMARCC1
SMARCC1
Q92922 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 Enzyme 37 0.674 0.423 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.400 None 1.000 1 1 2006 2006
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
Q9NYF0 dishevelled binding antagonist of beta catenin 1 134 0.547 0.692 0.40 0.300 None 1.000 1 0 2012 2012
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
Q2MV58 tectonic family member 1 82 0.597 0.615 1.1E-15 0.010 None 1.000 1 0 2015 2015
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-29 0.110 None 1.000 1 0 2014 2014
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.110 None 1.000 1 0 2009 2009
Entrez Id: 126820
Gene Symbol: WDR63
WDR63
Q8IWG1 WD repeat domain 63 Cellular structure 5 0.890 0.154 2.9E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.100 None 0 0
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
Q9BPU9 B9 domain containing 2 Extracellular structure 66 0.606 0.577 5.3E-05 0.100 None 0 0
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107
Q6UX40 transmembrane protein 107 83 0.592 0.692 3.1E-08 0.100 None 0 0
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15
Q96J42 thioredoxin domain containing 15 22 0.736 0.615 9.6E-03 0.100 None 0 1
Entrez Id: 84197
Gene Symbol: POMK
POMK
Q9H5K3 protein O-mannose kinase Kinase 101 0.590 0.500 1.9E-08 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 3
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
Q9NRR6 inositol polyphosphate-5-phosphatase E 153 0.561 0.615 3.1E-03 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1
O43505 beta-1,4-glucuronyltransferase 1 84 0.590 0.538 6.9E-03 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 0
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
Q4AC94 C2 domain containing 3 centriole elongation regulator 59 0.636 0.538 4.4E-19 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
Q9UPM9 B9 domain containing 1 Extracellular structure 107 0.572 0.692 2.8E-03 0.100 None 0 1
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.100 None 0 0