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: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.010 None 1.000 1 0 2013 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.020 None 1.000 2 0 2011 2012
Entrez Id: 7450
Gene Symbol: VWF
VWF 		P04275 von Willebrand factor Enzyme modulator 498 0.408 0.885 3.2E-25 0.010 None 1.000 1 0 2019 2019
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		Q96QU1 protocadherin related 15 94 0.601 0.577 8.0E-25 0.010 None 1.000 1 0 2014 2014
Entrez Id: 84698
Gene Symbol: CAPS2
CAPS2 		Q9BXY5 calcyphosine 2 11 0.839 0.077 6.1E-24 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.010 None 1.000 1 1 2012 2012
Entrez Id: 26278
Gene Symbol: SACS
SACS 		Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.010 None 1.000 1 0 2020 2020
Entrez Id: 145508
Gene Symbol: CEP128
CEP128 		Q6ZU80 centrosomal protein 128 14 0.780 0.423 4.7E-23 0.100 None 0 1
Entrez Id: 1806
Gene Symbol: DPYD
DPYD 		Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.010 None 1.000 1 1 2011 2011
Entrez Id: 339896
Gene Symbol: GADL1
GADL1 		Q6ZQY3 glutamate decarboxylase like 1 192 0.497 0.808 1.4E-21 0.010 None 1.000 1 0 2019 2019
Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3 		Q5FWF4 zinc finger RANBP2-type containing 3 19 0.780 0.577 4.2E-21 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.010 None 1.000 1 0 2010 2010
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 400 0.431 0.885 8.6E-19 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57576
Gene Symbol: KIF17
KIF17 		Q9P2E2 kinesin family member 17 Cellular structure 11 0.792 0.346 3.8E-18 0.010 None 1.000 1 0 2017 2017
Entrez Id: 23189
Gene Symbol: KANK1
KANK1 		Q14678 KN motif and ankyrin repeat domains 1 56 0.641 0.538 8.0E-18 0.010 None < 0.001 1 0 2020 2020
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.010 None 1.000 1 0 1999 1999
Entrez Id: 6332
Gene Symbol: SCN7A
SCN7A 		Q01118 sodium voltage-gated channel alpha subunit 7 Ion channel 78 0.585 0.692 2.2E-17 0.010 None 1.000 1 0 2015 2015
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.010 None 1.000 1 0 2014 2014
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 1
Entrez Id: 1801
Gene Symbol: DPH1
DPH1 		Q9BZG8 diphthamide biosynthesis 1 51 0.653 0.538 8.0E-17 0.140 None 1.000 4 1 2005 2020
Entrez Id: 7442
Gene Symbol: TRPV1
TRPV1 		Q8NER1 transient receptor potential cation channel subfamily V member 1 Ion channel 404 0.446 0.885 1.0E-16 0.010 None 1.000 1 0 2019 2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.100 None 0 1
Entrez Id: 4683
Gene Symbol: NBN
NBN 		O60934 nibrin Nucleic acid binding 291 0.467 0.808 2.2E-16 0.010 None 1.000 1 1 2006 2006
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12 		Q8WVT3 trafficking protein particle complex 12 Enzyme 28 0.751 0.385 5.4E-16 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 2803
Gene Symbol: GOLGA4
GOLGA4 		Q13439 golgin A4 39 0.656 0.692 9.5E-16 0.010 None 1.000 1 0 2019 2019