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: 3631
Gene Symbol: INPP4A
INPP4A
Q96PE3 inositol polyphosphate-4-phosphatase type I A 25 0.736 0.538 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 284098
Gene Symbol: PIGW
PIGW
Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 81 0.633 0.654 1.2E-05 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
P00367 glutamate dehydrogenase 1 Enzyme 86 0.584 0.731 7.0E-03 0.010 None 1.000 1 0 2008 2008
Entrez Id: 3925
Gene Symbol: STMN1
STMN1
P16949 stathmin 1 284 0.458 0.885 7.5E-02 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
P23415 glycine receptor alpha 1 Ion channel 75 0.628 0.500 1.6E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
Q96H96 coenzyme Q2, polyprenyltransferase Enzyme 139 0.590 0.731 1.3E-03 0.010 None 1.000 1 0 2013 2013
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.010 None 1.000 1 0 1994 1994
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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