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: 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: 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: 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: 100528023
Gene Symbol: PPR1
PPR1
Photoparoxysmal response 1 19 0.729 0.423 0.010 None 1.000 1 0 2007 2007
Entrez Id: 10715
Gene Symbol: CERS1
CERS1
P27544 ceramide synthase 1 49 0.638 0.385 9.7E-02 0.010 None 1.000 1 0 2016 2016
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1
O14810 complexin 1 138 0.576 0.654 0.82 0.010 None 1.000 1 0 2017 2017
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 94 0.619 0.615 0.98 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.010 None 1.000 1 0 2004 2004
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23067
Gene Symbol: SETD1B
SETD1B
Q9UPS6 SET domain containing 1B, histone lysine methyltransferase 33 0.722 0.423 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
P15328 folate receptor alpha 174 0.522 0.885 0.13 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.010 None 1.000 1 0 2005 2005
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: 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: 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: 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: 4541
Gene Symbol: ND6
ND6
P03923 NADH dehydrogenase, subunit 6 (complex I) 224 0.544 0.808 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
tRNA 135 0.608 0.577 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
P49821 NADH:ubiquinone oxidoreductase core subunit V1 94 0.617 0.538 6.4E-11 0.010 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: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
Q13813 spectrin alpha, non-erythrocytic 1 82 0.601 0.615 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
Q13428 treacle ribosome biogenesis factor 1 138 0.550 0.808 0.95 0.010 None 1.000 1 0 2002 2002
Entrez Id: 780910
Gene Symbol: PPR2
PPR2
Photoparoxysmal response 2 2 1.000 0.038 0.010 None 1.000 1 0 2007 2007