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: 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: 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: 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: 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: 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: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 3
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: 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: 56603
Gene Symbol: CYP26B1
CYP26B1
Q9NR63 cytochrome P450 family 26 subfamily B member 1 Enzyme 36 0.666 0.500 0.98 0.100 None 0 0
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: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 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: 2737
Gene Symbol: GLI3
GLI3
P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
P35453 homeobox D13 259 0.483 0.808 8.6E-03 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: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 1
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1
P07942 laminin subunit beta 1 Enzyme modulator 75 0.615 0.654 5.1E-22 0.100 None 0 0
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: 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: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
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: 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: 29954
Gene Symbol: POMT2
POMT2
Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 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