Source: ALL
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: 54187
Gene Symbol: NANS
NANS 		Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		Q5H8C1 FRAS1 related extracellular matrix 1 65 0.633 0.423 1.6E-52 0.300 None 0 0
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		A2RRP1 NBAS subunit of NRZ tethering complex 123 0.566 0.692 5.0E-43 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.300 None 1.000 1 0 2010 2010
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.300 None 1.000 1 0 2010 2010
Entrez Id: 348180
Gene Symbol: CTU2
CTU2 		Q2VPK5 cytosolic thiouridylase subunit 2 38 0.695 0.423 4.0E-22 0.100 None 0 0
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6 		O43541 SMAD family member 6 Transcription factor 93 0.579 0.731 3.6E-20 0.300 None 0 0
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 471
Gene Symbol: ATIC
ATIC 		P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 100 0.576 0.731 3.0E-19 0.100 None 0 0
Entrez Id: 1380
Gene Symbol: CR2
CR2 		P20023 complement C3d receptor 2 123 0.556 0.654 4.7E-19 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 0.100 None 0 0
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.300 None 1.000 1 0 2012 2012
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 0.100 None 0 0
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		Q9Y6C5 patched 2 114 0.563 0.692 3.4E-16 0.100 None 0 0
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B 		O14836 TNF receptor superfamily member 13B 137 0.558 0.769 2.1E-15 0.100 None 0 0
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9 		Q96Q05 trafficking protein particle complex 9 111 0.603 0.577 2.3E-14 0.110 None 1.000 1 0 2016 2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.100 None 0 0
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1 		Q8N6G6 ADAMTS like 1 Enzyme 40 0.682 0.654 3.1E-12 0.100 None 0 0
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		Q6NUK1 solute carrier family 25 member 24 Transporter 141 0.575 0.731 3.4E-12 0.100 None 0 0
Entrez Id: 2314
Gene Symbol: FLII
FLII 		Q13045 FLII actin remodeling protein 198 0.520 0.808 5.5E-12 0.100 None 0 0
Entrez Id: 4745
Gene Symbol: NELL1
NELL1 		Q92832 neural EGFL like 1 Calcium-binding protein 122 0.539 0.731 8.7E-12 0.300 None 1.000 1 0 2003 2003
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.100 None 0 0