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: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.090 None 1.000 9 0 1993 2019
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: 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: 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: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.020 None 1.000 2 0 2012 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.020 None 1.000 2 0 2000 2018
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: 57532
Gene Symbol: NUFIP2
NUFIP2 		Q7Z417 nuclear FMR1 interacting protein 2 58 0.641 0.577 1.00 0.020 None 1.000 2 0 2017 2019
Entrez Id: 338811
Gene Symbol: TAFA2
TAFA2 		Q8N3H0 TAFA chemokine like family member 2 15 0.780 0.192 0.34 0.020 None 1.000 2 0 2005 2018
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: 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: 5309
Gene Symbol: PITX3
PITX3 		O75364 paired like homeodomain 3 93 0.585 0.692 0.81 0.010 None 1.000 1 0 2012 2012
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: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5649
Gene Symbol: RELN
RELN 		P78509 reelin 178 0.515 0.731 1.00 0.010 None 1.000 1 0 2017 2017
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: 4129
Gene Symbol: MAOB
MAOB 		P27338 monoamine oxidase B 152 0.533 0.808 1.00 0.010 None 1.000 1 0 2012 2012
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: 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: 9759
Gene Symbol: HDAC4
HDAC4 		P56524 histone deacetylase 4 Epigenetic regulator 256 0.484 0.885 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8925
Gene Symbol: HERC1
HERC1 		Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 57 0.674 0.500 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G 		O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 80311
Gene Symbol: KLHL15
KLHL15 		Q96M94 kelch like family member 15 16 0.805 0.192 0.99 0.010 None 1.000 1 0 2014 2014
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: 79152
Gene Symbol: FA2H
FA2H 		Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.010 None 1.000 1 0 2014 2014