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: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.060 None 1.000 6 0 1992 2017
Entrez Id: 10305
Gene Symbol: MMDK
MMDK
Mesomelic dysplasia, Kantaputra type 5 0.861 0.154 0.010 None 1.000 1 0 2004 2004
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
uncharacterized LOC105371807 29 0.686 0.654 0.010 None 1.000 1 0 2014 2014
Entrez Id: 406932
Gene Symbol: MIR140
MIR140
microRNA 140 144 0.522 0.769 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54187
Gene Symbol: NANS
NANS
Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 0.010 None 1.000 1 0 2016 2016
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 136 0.555 0.731 1.1E-44 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
O94761 RecQ like helicase 4 Enzyme 249 0.496 0.808 3.3E-35 0.100 None 0 0
Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141
Q6ZP82 coiled-coil domain containing 141 61 0.666 0.538 1.6E-33 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.100 None 0 0
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
Q2KHM9 KIAA0753 82 0.631 0.577 1.6E-28 0.010 None 1.000 1 0 2017 2017
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Q7Z4L5 tetratricopeptide repeat domain 21B 76 0.619 0.654 2.7E-26 0.100 None 0 0
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
Q96PY6 NIMA related kinase 1 Kinase 131 0.575 0.769 1.9E-25 0.010 None 1.000 1 0 2011 2011
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
Q96RY7 intraflagellar transport 140 Cellular structure 124 0.572 0.692 9.9E-24 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
P98160 heparan sulfate proteoglycan 2 Enzyme modulator 405 0.438 0.885 1.0E-19 0.410 None 1.000 3 0 1999 2002
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Q9P2H3 intraflagellar transport 80 109 0.575 0.692 1.4E-19 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
P20849 collagen type IX alpha 1 chain 116 0.566 0.731 3.1E-19 0.310 None 1.000 2 0 2001 2006
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
Q4AC94 C2 domain containing 3 centriole elongation regulator 59 0.636 0.538 4.4E-19 0.010 None 1.000 1 0 2016 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6561
Gene Symbol: SLC13A1
SLC13A1
Q9BZW2 solute carrier family 13 member 1 Transporter 7 0.861 0.269 1.2E-17 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
P29371 tachykinin receptor 3 G-protein coupled receptor 147 0.553 0.769 1.8E-17 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.470 None 1.000 8 0 2008 2017
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0