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: 80144
Gene Symbol: FRAS1
FRAS1 		Q86XX4 Fraser extracellular matrix complex subunit 1 122 0.560 0.577 3.1E-45 0.310 None 1.000 1 0 2007 2007
Entrez Id: 1063
Gene Symbol: CENPF
CENPF 		P49454 centromere protein F 76 0.601 0.654 1.9E-36 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: 9652
Gene Symbol: TTC37
TTC37 		Q6PGP7 tetratricopeptide repeat domain 37 91 0.626 0.654 1.7E-29 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: 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: 1806
Gene Symbol: DPYD
DPYD 		Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 173 0.558 0.615 2.3E-21 0.100 None 0 0
Entrez Id: 1663
Gene Symbol: DDX11
DDX11 		Q96FC9 DEAD/H-box helicase 11 Enzyme 44 0.674 0.577 2.3E-21 0.100 None 0 0
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: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1 		O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 78 0.638 0.500 4.5E-17 0.100 None 0 0
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: 54903
Gene Symbol: MKS1
MKS1 		Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.100 None 0 0
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		Q9Y6C5 patched 2 114 0.563 0.692 3.4E-16 0.300 None 1.000 1 0 2009 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.100 None 0 1
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
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: 3425
Gene Symbol: IDUA
IDUA 		P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.100 None 0 0
Entrez Id: 10484
Gene Symbol: SEC23A
SEC23A 		Q15436 Sec23 homolog A, COPII coat complex component Enzyme modulator 73 0.659 0.423 1.1E-11 0.100 None 0 0
Entrez Id: 10225
Gene Symbol: CD96
CD96 		P40200 CD96 molecule 109 0.592 0.692 1.4E-11 0.100 None 0 0
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D 		O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 177 0.513 0.808 2.2E-11 0.100 None 0 0