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 0.020 None 1.000 2 0 2004 2005
Entrez Id: 100038247
Gene Symbol: PTLS
PTLS 		Potocki-Lupski syndrome 17 0.780 0.308 0.010 None 1.000 1 0 2014 2014
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		Q9UKN7 myosin XVA Cellular structure 26 0.722 0.346 1.3E-56 0.020 None 1.000 2 0 1999 2001
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.030 None 1.000 3 1 2015 2019
Entrez Id: 23586
Gene Symbol: DDX58
DDX58 		O95786 DExD/H-box helicase 58 144 0.526 0.808 1.8E-23 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		P45452 matrix metallopeptidase 13 Enzyme 328 0.452 0.923 7.9E-18 0.010 None 1.000 1 0 2014 2014
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.010 None 1.000 1 0 2014 2014
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B 		O14836 TNF receptor superfamily member 13B 137 0.558 0.769 2.1E-15 0.020 None 1.000 2 0 2011 2015
Entrez Id: 8909
Gene Symbol: ENDOU
ENDOU 		P21128 endonuclease, poly(U) specific 41 0.682 0.423 3.2E-14 0.010 None 1.000 1 0 1996 1996
Entrez Id: 2314
Gene Symbol: FLII
FLII 		Q13045 FLII actin remodeling protein 198 0.520 0.808 5.5E-12 0.300 None 1.000 3 0 1995 2005
Entrez Id: 6050
Gene Symbol: RNH1
RNH1 		P13489 ribonuclease/angiogenin inhibitor 1 Transcription factor 90 0.569 0.731 2.6E-10 0.010 None 1.000 1 0 2017 2017
Entrez Id: 55248
Gene Symbol: PACC1
PACC1 		Q9H813 proton activated chloride channel 1 100 0.565 0.731 5.4E-10 0.020 None 1.000 2 0 2001 2002
Entrez Id: 56953
Gene Symbol: NT5M
NT5M 		Q9NPB1 5',3'-nucleotidase, mitochondrial 1 1.000 0.077 1.0E-08 0.010 None 1.000 1 0 2000 2000
Entrez Id: 28954
Gene Symbol: REM1
REM1 		O75628 RRAD and GEM like GTPase 1 177 0.531 0.885 5.3E-08 0.020 None 1.000 2 0 1996 2010
Entrez Id: 5920
Gene Symbol: PLAAT4
PLAAT4 		Q9UL19 phospholipase A and acyltransferase 4 190 0.500 0.808 1.2E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3996
Gene Symbol: LLGL1
LLGL1 		Q15334 LLGL scribble cell polarity complex component 1 Transporter 48 0.636 0.423 2.5E-05 0.020 None 1.000 2 0 1997 1997
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.300 None 1.000 1 0 2017 2017
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		P04626 erb-b2 receptor tyrosine kinase 2 Kinase 995 0.328 0.923 6.0E-03 0.020 None 1.000 2 0 2011 2017
Entrez Id: 6720
Gene Symbol: SREBF1
SREBF1 		P36956 sterol regulatory element binding transcription factor 1 159 0.518 0.808 1.5E-02 0.020 None 1.000 2 0 2003 2018
Entrez Id: 7732
Gene Symbol: RNF112
RNF112 		Q9ULX5 ring finger protein 112 Enzyme modulator 22 0.716 0.500 2.2E-02 0.030 None 1.000 3 0 1997 1998
Entrez Id: 2688
Gene Symbol: GH1
GH1 		P01241 growth hormone 1 Signaling 686 0.373 0.923 3.0E-02 0.020 None 1.000 2 0 2004 2004
Entrez Id: 10848
Gene Symbol: PPP1R13L
PPP1R13L 		Q8WUF5 protein phosphatase 1 regulatory subunit 13 like 122 0.539 0.692 3.2E-02 0.010 None 1.000 1 0 2017 2017
Entrez Id: 51655
Gene Symbol: RASD1
RASD1 		Q9Y272 ras related dexamethasone induced 1 42 0.666 0.654 3.9E-02 0.020 None 1.000 2 0 2013 2018
Entrez Id: 53358
Gene Symbol: SHC3
SHC3 		Q92529 SHC adaptor protein 3 Signaling 72 0.587 0.731 4.6E-02 0.010 None 1.000 1 0 2017 2017
Entrez Id: 170685
Gene Symbol: NUDT10
NUDT10 		Q8NFP7 nudix hydrolase 10 Enzyme 23 0.705 0.423 0.11 0.010 None 1.000 1 0 1999 1999