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: 140821
Gene Symbol: RSS
RSS 		Russell Silver syndrome 103 0.578 0.692 0.100 None 0.983 58 0 2017 2020
Entrez Id: 6611
Gene Symbol: SMS
SMS 		P52788 spermine synthase 263 0.491 0.846 0.97 0.100 None 0.983 58 0 2017 2020
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		P01112 HRas proto-oncogene, GTPase Enzyme modulator 698 0.378 0.885 8.0E-02 0.100 None 1.000 9 1 2005 2009
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		Q96MS0 roundabout guidance receptor 3 Receptor 154 0.520 0.808 2.0E-15 0.190 None 1.000 9 1 2004 2019
Entrez Id: 260402
Gene Symbol: IS1
IS1 		Adolescent idiopathic scoliosis 83 0.593 0.615 0.070 None 1.000 7 0 2007 2019
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		Q8TF17 SH3 domain and tetratricopeptide repeats 2 55 0.666 0.385 8.3E-16 0.140 None 1.000 4 0 2009 2019
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 1.000 4 1 2010 2014
Entrez Id: 8626
Gene Symbol: TP63
TP63 		Q9H3D4 tumor protein p63 Transcription factor 816 0.362 0.769 1.00 0.040 None 1.000 4 0 2007 2019
Entrez Id: 2688
Gene Symbol: GH1
GH1 		P01241 growth hormone 1 Signaling 686 0.373 0.923 3.0E-02 0.040 None 0.750 4 0 2006 2018
Entrez Id: 367
Gene Symbol: AR
AR 		P10275 androgen receptor Nuclear receptor 854 0.351 0.846 0.99 0.040 None 1.000 4 0 2007 2019
Entrez Id: 7908
Gene Symbol: EOS
EOS 		eosinophilia, familial 36 0.666 0.538 0.030 None 1.000 3 0 2017 2018
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 224 0.529 0.769 8.1E-07 0.130 None 1.000 3 0 2017 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.130 None 1.000 3 6 2008 2017
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.120 None 1.000 2 3 2006 2007
Entrez Id: 4036
Gene Symbol: LRP2
LRP2 		P98164 LDL receptor related protein 2 254 0.491 0.846 1.00 0.020 None 1.000 2 0 2017 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.120 None 1.000 2 0 2013 2016
Entrez Id: 10660
Gene Symbol: LBX1
LBX1 		P52954 ladybird homeobox 1 Transcription factor 16 0.736 0.462 0.68 0.110 None 1.000 2 1 2011 2014
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		P35556 fibrillin 2 Calcium-binding protein 211 0.505 0.808 1.00 0.020 None 1.000 2 1 2014 2018
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L 		O15068 MCF.2 cell line derived transforming sequence like Signaling 124 0.559 0.769 2.7E-07 0.020 None 1.000 2 0 2017 2018
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		Q8N766 ER membrane protein complex subunit 1 38 0.700 0.462 6.7E-26 0.100 None 1.000 2 1 2016 2017
Entrez Id: 4314
Gene Symbol: MMP3
MMP3 		P08254 matrix metallopeptidase 3 Enzyme 473 0.408 0.885 5.7E-15 0.020 None 0.500 2 0 2007 2010
Entrez Id: 10683
Gene Symbol: DLL3
DLL3 		Q9NYJ7 delta like canonical Notch ligand 3 134 0.552 0.654 5.4E-05 0.410 None 1.000 2 0 2005 2007
Entrez Id: 2395
Gene Symbol: FXN
FXN 		Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.120 None 1.000 2 0 2007 2016
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		EMC1 antisense RNA 1 15 0.792 0.385 0.100 None 1.000 2 1 2016 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		P01137 transforming growth factor beta 1 Signaling 1558 0.287 0.962 3.7E-02 0.120 None 1.000 2 0 2005 2013