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: 10804
Gene Symbol: GJB6
GJB6 		O95452 gap junction protein beta 6 Cell-cell junction 176 0.528 0.808 1.7E-07 0.110 None 1.000 1 0 2014 2014
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.110 None < 0.001 1 0 2007 2007
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.110 None 1.000 1 0 2015 2015
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		Q92915 fibroblast growth factor 14 Signaling 90 0.619 0.692 0.91 0.110 None 1.000 1 1 2009 2009
Entrez Id: 23111
Gene Symbol: SPART
SPART 		Q8N0X7 spartin 110 0.588 0.654 3.0E-07 0.110 None 1.000 1 0 2010 2010
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.110 None 1.000 1 0 2018 2018
Entrez Id: 3035
Gene Symbol: HARS1
HARS1 		P12081 histidyl-tRNA synthetase 1 Enzyme 127 0.569 0.808 2.4E-06 0.110 None 1.000 1 1 2019 2019
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240 		Q5SV17 transmembrane protein 240 40 0.760 0.231 0.23 0.110 None 1.000 1 0 2014 2014
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		Q9BVA1 tubulin beta 2B class IIb 82 0.610 0.385 0.99 0.110 None 1.000 1 0 2017 2017
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1 		Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 205 0.518 0.846 1.00 0.110 None 1.000 1 1 2018 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.110 None 1.000 1 0 2014 2014
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		P13473 lysosomal associated membrane protein 2 Transporter 134 0.552 0.731 0.27 0.110 None 1.000 1 0 2017 2017
Entrez Id: 4774
Gene Symbol: NFIA
NFIA 		Q12857 nuclear factor I A Nucleic acid binding 95 0.599 0.808 1.00 0.110 None 1.000 1 0 2013 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.110 None 1.000 1 2 2016 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.110 None 1.000 1 3 2018 2018
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.110 None 1.000 1 0 2017 2017
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.110 None 1.000 1 0 2014 2014
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		P49815 TSC complex subunit 2 Enzyme modulator 410 0.439 0.808 1.00 0.110 None 1.000 1 0 2014 2014
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.110 None 1.000 1 0 2015 2015
Entrez Id: 84197
Gene Symbol: POMK
POMK 		Q9H5K3 protein O-mannose kinase Kinase 101 0.590 0.500 1.9E-08 0.110 None 1.000 1 0 2014 2014
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1 		O00522 KRIT1 ankyrin repeat containing 201 0.500 0.808 6.9E-04 0.110 None 1.000 1 0 2000 2000
Entrez Id: 348
Gene Symbol: APOE
APOE 		P02649 apolipoprotein E 1049 0.338 0.962 1.9E-03 0.100 None 0.942 481 4 1995 2020
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		P10636 microtubule associated protein tau 469 0.446 0.923 6.0E-03 0.100 None 0.985 67 4 2002 2020
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		P22303 acetylcholinesterase (Cartwright blood group) Enzyme 418 0.445 0.885 1.00 0.100 None 0.951 41 0 2002 2020
Entrez Id: 1437
Gene Symbol: CSF2
CSF2 		P04141 colony stimulating factor 2 Signaling 1028 0.330 0.962 0.83 0.100 None 0.923 39 0 2010 2020