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: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.140 None 1.000 4 1 2000 2016
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: 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: 5476
Gene Symbol: CTSA
CTSA 		P10619 cathepsin A Enzyme 73 0.619 0.731 5.9E-09 0.100 None 1.000 3 2 1996 2014
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: 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: 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: 4088
Gene Symbol: SMAD3
SMAD3 		P84022 SMAD family member 3 Transcription factor 470 0.415 0.923 0.80 0.010 None 1.000 1 0 2013 2013
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		P21333 filamin A 571 0.419 0.846 1.00 0.110 None 1.000 1 0 2002 2002
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1 		Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 112 0.599 0.615 1.00 0.110 None 1.000 1 0 2014 2014
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
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: 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: 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: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.110 None 1.000 1 0 1998 1998
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		Q5JU85 IQ motif and Sec7 domain ArfGEF 2 155 0.573 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.010 None 1.000 1 0 2010 2010
Entrez Id: 80155
Gene Symbol: NAA15
NAA15 		Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 43 0.700 0.423 1.00 0.010 None 1.000 1 0 2018 2018
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: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 604 0.398 0.885 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.110 None 1.000 1 1 2016 2016