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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.100 None 1.000 21 0 2005 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.200 None 1.000 10 0 2010 2020
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		Q96Q11 tRNA nucleotidyl transferase 1 40 0.700 0.192 1.6E-04 0.160 None 1.000 6 0 2014 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.060 None 1.000 6 0 2011 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.150 None 1.000 5 0 2007 2014
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.050 None 1.000 5 0 2013 2018
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.440 moderate 1.000 5 0 2013 2019
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE 		P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 176 0.530 0.692 0.98 0.150 None 1.000 5 0 2008 2013
Entrez Id: 8260
Gene Symbol: NAA10
NAA10 		P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 199 0.535 0.692 0.76 0.150 None 1.000 5 0 2015 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.140 None 0.750 4 0 1992 2018
Entrez Id: 414
Gene Symbol: ARSD
ARSD 		P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.040 None 1.000 4 0 2013 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.140 None 1.000 4 0 2002 2020
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		Q9HCK8 chromodomain helicase DNA binding protein 8 66 0.656 0.577 1.00 0.040 None 1.000 4 0 2014 2019
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		P35711 SRY-box transcription factor 5 150 0.545 0.769 1.00 0.140 None 1.000 4 0 2013 2017
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		O15409 forkhead box P2 165 0.545 0.808 1.00 0.040 None 1.000 4 0 2006 2017
Entrez Id: 10735
Gene Symbol: STAG2
STAG2 		Q8N3U4 stromal antigen 2 Nucleic acid binding 132 0.568 0.731 1.00 0.420 strong 1.000 3 0 2015 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.420 strong 1.000 3 0 2007 2017
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 139 0.546 0.615 0.95 0.130 None 1.000 3 0 1998 2018
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		Q9NRF2 SH2B adaptor protein 1 140 0.566 0.731 0.97 0.130 None 1.000 3 0 2010 2017
Entrez Id: 26523
Gene Symbol: AGO1
AGO1 		Q9UL18 argonaute RISC component 1 48 0.656 0.577 1.00 0.320 moderate 1.000 3 0 2015 2018
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1 		P23415 glycine receptor alpha 1 Ion channel 75 0.628 0.500 1.6E-04 0.310 moderate 1.000 3 0 1992 2017
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		P08069 insulin like growth factor 1 receptor Kinase 556 0.399 0.885 0.97 0.420 strong 1.000 3 0 2013 2017
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 2010 2015
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.130 None 1.000 3 0 1997 2014
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.130 None 1.000 3 0 2017 2018