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 0.040 None 1.000 4 0 2018 2019
Entrez Id: 6611
Gene Symbol: SMS
SMS 		P52788 spermine synthase 263 0.491 0.846 0.97 0.040 None 1.000 4 0 2018 2019
Entrez Id: 7908
Gene Symbol: EOS
EOS 		eosinophilia, familial 36 0.666 0.538 0.030 None 1.000 3 0 2017 2019
Entrez Id: 260402
Gene Symbol: IS1
IS1 		Adolescent idiopathic scoliosis 83 0.593 0.615 0.020 None 1.000 2 0 2018 2019
Entrez Id: 54796
Gene Symbol: BNC2
BNC2 		Q6ZN30 basonuclin 2 Nucleic acid binding 72 0.612 0.615 0.93 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.010 None 1.000 1 0 2007 2007
Entrez Id: 8826
Gene Symbol: IQGAP1
IQGAP1 		P46940 IQ motif containing GTPase activating protein 1 Enzyme modulator 109 0.560 0.692 1.00 0.010 None 1.000 1 0 2001 2001
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2 		Q16236 nuclear factor, erythroid 2 like 2 Enzyme 823 0.357 0.885 3.6E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		P25189 myelin protein zero 249 0.503 0.846 0.27 0.010 None 1.000 1 0 2007 2007
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 2017 2017
Entrez Id: 4036
Gene Symbol: LRP2
LRP2 		P98164 LDL receptor related protein 2 254 0.491 0.846 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 367
Gene Symbol: AR
AR 		P10275 androgen receptor Nuclear receptor 854 0.351 0.846 0.99 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55902
Gene Symbol: ACSS2
ACSS2 		Q9NR19 acyl-CoA synthetase short chain family member 2 Enzyme 188 0.506 0.808 1.1E-13 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5827
Gene Symbol: PXMP2
PXMP2 		Q9NR77 peroxisomal membrane protein 2 Receptor 16 0.743 0.192 9.2E-03 0.010 None 1.000 1 0 2007 2007
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 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8740
Gene Symbol: TNFSF14
TNFSF14 		O43557 TNF superfamily member 14 Signaling 143 0.529 0.769 5.2E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8626
Gene Symbol: TP63
TP63 		Q9H3D4 tumor protein p63 Transcription factor 816 0.362 0.769 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 84680
Gene Symbol: ACCS
ACCS 		Q96QU6 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) Enzyme 161 0.522 0.731 9.0E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7124
Gene Symbol: TNF
TNF 		P01375 tumor necrosis factor Signaling 2724 0.231 0.962 0.80 0.010 None 1.000 1 0 2006 2006
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		P01137 transforming growth factor beta 1 Signaling 1558 0.287 0.962 3.7E-02 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6911
Gene Symbol: TBX6
TBX6 		O95947 T-box transcription factor 6 Transcription factor 52 0.659 0.385 6.8E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		P12643 bone morphogenetic protein 2 Signaling 428 0.432 0.846 0.99 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		P48735 isocitrate dehydrogenase (NADP(+)) 2 380 0.434 0.808 0.88 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B 		P01889 major histocompatibility complex, class I, B 706 0.379 0.885 3.9E-05 0.010 None 1.000 1 0 2017 2017