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: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6736
Gene Symbol: SRY
SRY 		Q05066 sex determining region Y Transcription factor 315 0.456 0.808 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 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		Q6DN12 multiple C2 and transmembrane domain containing 2 71 0.623 0.577 6.0E-52 0.100 None 0 0
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 125 0.572 0.731 3.2E-39 0.100 None 0 0
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		O76024 wolframin ER transmembrane glycoprotein 185 0.528 0.846 1.6E-38 0.100 None 0 0
Entrez Id: 27255
Gene Symbol: CNTN6
CNTN6 		Q9UQ52 contactin 6 Receptor 36 0.678 0.462 9.0E-31 0.100 None 0 1
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		P56730 serine protease 12 Enzyme 50 0.682 0.308 8.4E-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: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.100 None 0 1
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: 10466
Gene Symbol: COG5
COG5 		Q9UP83 component of oligomeric golgi complex 5 71 0.656 0.538 9.8E-20 0.110 None 1.000 1 0 2017 2017
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.100 None 0 0
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2 		Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 50 0.659 0.654 4.6E-18 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		Q9Y5W7 sorting nexin 14 Enzyme modulator 59 0.659 0.423 6.1E-17 0.100 None 0 0
Entrez Id: 1950
Gene Symbol: EGF
EGF 		P01133 epidermal growth factor 774 0.357 0.923 8.5E-17 0.100 None 0 0
Entrez Id: 54872
Gene Symbol: PIGG
PIGG 		Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 21 0.792 0.231 5.4E-15 0.100 None 0 1
Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B 		Q9UGL1 lysine demethylase 5B Epigenetic regulator 162 0.532 0.731 7.9E-15 0.100 None 0 0
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9 		Q96Q05 trafficking protein particle complex 9 111 0.603 0.577 2.3E-14 0.100 None 0 0
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.100 None 0 0
Entrez Id: 33
Gene Symbol: ACADL
ACADL 		P28330 acyl-CoA dehydrogenase long chain Enzyme 46 0.736 0.462 1.7E-12 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237 		Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 0.100 None 0 0