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 0.090 None 1.000 9 0 1994 2007
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8 		P48029 solute carrier family 6 member 8 Transporter 274 0.476 0.846 1.00 0.030 None 1.000 3 0 2002 2011
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 1995 1996
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 103 0.617 0.692 1.00 0.020 None 1.000 2 0 2002 2013
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.020 None 0.500 2 0 2002 2015
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		P51816 AF4/FMR2 family member 2 Transcription factor 66 0.636 0.538 1.00 0.020 None 1.000 2 0 1996 2007
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2013 2015
Entrez Id: 952
Gene Symbol: CD38
CD38 		P28907 CD38 molecule Enzyme 473 0.407 0.885 2.3E-06 0.020 None 1.000 2 0 2007 2008
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2 		Q9UPX8 SH3 and multiple ankyrin repeat domains 2 49 0.663 0.385 8.4E-07 0.010 None 1.000 1 0 2014 2014
Entrez Id: 23417
Gene Symbol: MLYCD
MLYCD 		O95822 malonyl-CoA decarboxylase 79 0.617 0.769 6.5E-04 0.010 None < 0.001 1 0 1999 1999
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		Q8WYB5 lysine acetyltransferase 6B Enzyme 208 0.525 0.731 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7204
Gene Symbol: TRIO
TRIO 		O75962 trio Rho guanine nucleotide exchange factor Kinase 143 0.556 0.731 1.00 0.110 None 1.000 1 0 2016 2016
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		P35711 SRY-box transcription factor 5 150 0.545 0.769 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		P41225 SRY-box transcription factor 3 Transcription factor 151 0.535 0.731 0.45 0.110 None 1.000 1 0 2002 2002
Entrez Id: 6656
Gene Symbol: SOX1
SOX1 		O00570 SRY-box transcription factor 1 Transcription factor 55 0.617 0.692 0.62 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		P49459 ubiquitin conjugating enzyme E2 A 96 0.623 0.692 0.81 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1837
Gene Symbol: DTNA
DTNA 		Q9Y4J8 dystrobrevin alpha 35 0.695 0.385 0.63 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2 		P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.010 None 1.000 1 0 2019 2019
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2 		Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 143 0.584 0.769 0.99 0.110 None 1.000 1 0 2006 2006
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 131 0.573 0.731 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 23404
Gene Symbol: EXOSC2
EXOSC2 		Q13868 exosome component 2 Enzyme 37 0.711 0.462 2.9E-06 0.110 None 1.000 1 0 2020 2020
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 23097
Gene Symbol: CDK19
CDK19 		Q9BWU1 cyclin dependent kinase 19 Kinase 34 0.691 0.462 1.00 0.010 None 1.000 1 0 2010 2010
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.010 None 1.000 1 0 2008 2008
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		Q9UPP1 PHD finger protein 8 75 0.631 0.577 1.00 0.110 None 1.000 1 0 2014 2014