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: 2477
Gene Symbol: FRAXA
FRAXA 		fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.030 None 1.000 3 0 1993 2000
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.020 None 1.000 2 0 1995 1996
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2013 2014
Entrez Id: 106478973
Gene Symbol: FMR1-IT1
FMR1-IT1 		FMR1 intronic transcript 1 29 0.716 0.385 0.010 None 1.000 1 0 1993 1993
Entrez Id: 619553
Gene Symbol: MIR484
MIR484 		microRNA 484 48 0.638 0.577 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.010 None 1.000 1 0 2001 2001
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.010 None 1.000 1 0 2014 2014
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.020 None 1.000 2 0 2006 2008
Entrez Id: 10457
Gene Symbol: GPNMB
GPNMB 		Q14956 glycoprotein nmb Signaling 103 0.566 0.692 2.9E-27 0.010 None 1.000 1 1 2016 2016
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.010 None 1.000 1 0 2010 2010
Entrez Id: 10752
Gene Symbol: CHL1
CHL1 		O00533 cell adhesion molecule L1 like 73 0.603 0.654 8.9E-12 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1576
Gene Symbol: CYP3A4
CYP3A4 		P08684 cytochrome P450 family 3 subfamily A member 4 Enzyme 291 0.462 0.885 5.8E-11 0.010 None 1.000 1 0 2017 2017
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.010 None 1.000 1 0 2002 2002
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		Q9UHC6 contactin associated protein 2 203 0.530 0.846 2.9E-09 0.010 None 1.000 1 0 2016 2016
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		O15120 1-acylglycerol-3-phosphate O-acyltransferase 2 125 0.585 0.654 1.2E-07 0.010 None 1.000 1 0 2002 2002
Entrez Id: 4846
Gene Symbol: NOS3
NOS3 		P29474 nitric oxide synthase 3 706 0.378 0.885 6.7E-07 0.010 None 1.000 1 0 2005 2005
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.010 None 1.000 1 0 2016 2016
Entrez Id: 383
Gene Symbol: ARG1
ARG1 		P05089 arginase 1 Enzyme 273 0.476 0.846 3.6E-04 0.020 None 1.000 2 0 2008 2015
Entrez Id: 414
Gene Symbol: ARSD
ARSD 		P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		P02649 apolipoprotein E 1049 0.338 0.962 1.9E-03 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.030 None 1.000 3 0 2013 2019
Entrez Id: 2641
Gene Symbol: GCG
GCG 		P01275 glucagon 441 0.431 0.885 3.5E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2874
Gene Symbol: GPS2
GPS2 		Q13227 G protein pathway suppressor 2 Enzyme modulator 25 0.691 0.346 5.3E-02 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		P01112 HRas proto-oncogene, GTPase Enzyme modulator 698 0.378 0.885 8.0E-02 0.010 None 1.000 1 0 2015 2015