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: 6690
Gene Symbol: SPINK1
SPINK1 		P00995 serine peptidase inhibitor Kazal type 1 216 0.492 0.808 0.31 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		Q15672 twist family bHLH transcription factor 1 Transcription factor 559 0.397 0.846 0.34 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4311
Gene Symbol: MME
MME 		P08473 membrane metalloendopeptidase Enzyme 470 0.407 0.808 1.5E-18 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.010 None 1.000 1 0 2019 2019
Entrez Id: 282991
Gene Symbol: BLOC1S2
BLOC1S2 		Q6QNY1 biogenesis of lysosomal organelles complex 1 subunit 2 22 0.760 0.346 1.2E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 268
Gene Symbol: AMH
AMH 		P03971 anti-Mullerian hormone 242 0.476 0.846 3.4E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1 		Q53HV7 single-strand-selective monofunctional uracil-DNA glycosylase 1 1034 0.322 0.923 4.5E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10951
Gene Symbol: CBX1
CBX1 		P83916 chromobox 1 Epigenetic regulator 27 0.722 0.346 0.98 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1312
Gene Symbol: COMT
COMT 		P21964 catechol-O-methyltransferase Enzyme 622 0.400 0.923 1.1E-06 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 3929
Gene Symbol: LBP
LBP 		P18428 lipopolysaccharide binding protein 156 0.525 0.808 4.2E-15 0.020 None 1.000 2 0 2017 2020
Entrez Id: 412
Gene Symbol: STS
STS 		P08842 steroid sulfatase Enzyme 382 0.431 0.846 0.81 0.020 None 0.500 2 0 2018 2019
Entrez Id: 6611
Gene Symbol: SMS
SMS 		P52788 spermine synthase 263 0.491 0.846 0.97 0.030 None 1.000 3 0 2018 2020
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2 		Q9NQZ6 zinc finger C4H2-type containing 151 0.561 0.731 0.91 0.030 None 1.000 3 0 2017 2020
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS 		Q96EN8 molybdenum cofactor sulfurase 81 0.617 0.654 1.6E-19 0.030 None 1.000 3 0 2017 2020
Entrez Id: 7584
Gene Symbol: ZNF35
ZNF35 		P13682 zinc finger protein 35 Transcription factor 41 0.670 0.462 4.2E-02 0.030 None 1.000 3 0 2017 2019
Entrez Id: 140821
Gene Symbol: RSS
RSS 		Russell Silver syndrome 103 0.578 0.692 0.030 None 1.000 3 0 2018 2020
Entrez Id: 4184
Gene Symbol: SMCP
SMCP 		P49901 sperm mitochondria associated cysteine rich protein 75 0.621 0.692 0.030 None 1.000 3 0 2017 2020
Entrez Id: 3569
Gene Symbol: IL6
IL6 		P05231 interleukin 6 2367 0.248 0.962 0.32 0.030 None 1.000 3 0 2008 2019
Entrez Id: 5067
Gene Symbol: CNTN3
CNTN3 		Q9P232 contactin 3 77 0.612 0.654 2.0E-05 0.040 None 0.750 4 0 2017 2020
Entrez Id: 83985
Gene Symbol: SPNS1
SPNS1 		Q9H2V7 sphingolipid transporter 1 (putative) Transporter 38 0.716 0.385 2.0E-02 0.050 None 1.000 5 0 2018 2019
Entrez Id: 4677
Gene Symbol: NARS1
NARS1 		O43776 asparaginyl-tRNA synthetase 1 Enzyme 38 0.722 0.423 2.9E-09 0.050 None 1.000 5 0 2018 2019
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 113 0.579 0.615 0.42 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		P01137 transforming growth factor beta 1 Signaling 1558 0.287 0.962 3.7E-02 0.100 None 0 0
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.100 None 0 0