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: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.400 None 1.000 19 0 2002 2011
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.310 None 1.000 2 0 2008 2018
Entrez Id: 27327
Gene Symbol: TNRC6A
TNRC6A 		Q8NDV7 trinucleotide repeat containing adaptor 6A 39 0.674 0.346 1.00 0.300 None 1.000 1 0 2018 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC 		P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.300 None 1.000 1 0 1984 1984
Entrez Id: 9693
Gene Symbol: RAPGEF2
RAPGEF2 		Q9Y4G8 Rap guanine nucleotide exchange factor 2 Enzyme modulator 18 0.716 0.269 1.00 0.300 None 1.000 1 0 2018 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.300 None 1.000 1 0 2007 2007
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.300 strong 1.000 1 0 1995 1995
Entrez Id: 401474
Gene Symbol: SAMD12
SAMD12 		Q8N8I0 sterile alpha motif domain containing 12 36 0.700 0.269 1.2E-03 0.300 None 1.000 1 0 2018 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.300 None 0 0
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		P04080 cystatin B Enzyme modulator 155 0.530 0.692 6.6E-03 0.080 None 1.000 8 0 1994 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.040 None 1.000 4 1 2002 2009
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.030 None 1.000 3 0 2015 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		Q14108 scavenger receptor class B member 2 Receptor 103 0.606 0.615 8.9E-05 0.030 None 0.667 3 1 2008 2011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.030 None 1.000 3 0 2006 2011
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.020 None 1.000 2 0 2011 2018
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.020 None 1.000 2 0 2008 2018
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A 		O95278 EPM2A glucan phosphatase, laforin 87 0.608 0.577 8.7E-06 0.020 None 1.000 2 0 2002 2016
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		Q96MT3 prickle planar cell polarity protein 1 Cellular structure 57 0.647 0.615 1.00 0.020 None 1.000 2 0 2015 2018
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 125 0.572 0.731 3.2E-39 0.020 None 1.000 2 0 2011 2018
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		O15239 NADH:ubiquinone oxidoreductase subunit A1 74 0.636 0.423 0.55 0.020 None 1.000 2 2 2007 2018
Entrez Id: 4540
Gene Symbol: ND5
ND5 		P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 241 0.531 0.769 0.020 None 1.000 2 0 2005 2018
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1 		Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 73 0.621 0.692 4.1E-11 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5991
Gene Symbol: RFX3
RFX3 		P48380 regulatory factor X3 Transcription factor 28 0.686 0.462 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.010 None 1.000 1 0 2012 2012