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: 774
Gene Symbol: CACNA1B
CACNA1B 		Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 79 0.650 0.577 1.00 0.400 strong 1.000 2 0 2015 2019
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS 		Q9NX46 ADP-ribosylserine hydrolase 30 0.743 0.308 5.8E-04 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 8021
Gene Symbol: NUP214
NUP214 		P35658 nucleoporin 214 Nucleic acid binding 62 0.638 0.385 5.5E-02 0.400 None 1.000 1 0 2019 2019
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5 		Q9UNP4 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 78 0.650 0.654 1.3E-03 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		P17480 upstream binding transcription factor 44 0.705 0.462 1.00 0.400 limited 1.000 1 1 2017 2017
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2 		Q99447 phosphate cytidylyltransferase 2, ethanolamine Enzyme 13 0.821 0.192 8.6E-04 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		Q9Y289 solute carrier family 5 member 6 Transporter 37 0.674 0.577 6.1E-03 0.300 None 1.000 1 0 2018 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.130 None 1.000 3 7 2007 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 0.120 None 1.000 2 0 2008 2018
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3 		Q53S33 bolA family member 3 26 0.760 0.231 0.15 0.110 None 1.000 1 0 2018 2018
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		P15328 folate receptor alpha 174 0.522 0.885 0.13 0.110 None 1.000 1 0 2012 2012
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.110 None 1.000 1 0 2018 2018
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.110 None 1.000 1 0 2018 2018
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 68 0.650 0.423 6.3E-04 0.110 None 1.000 1 2 2018 2018
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.100 None 1.000 5 15 1992 2014
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 1.000 2 2 2017 2017
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		P04350 tubulin beta 4A class IVa Cellular structure 107 0.608 0.615 0.11 0.100 None 1.000 1 1 2014 2014
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 83 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 83 0.617 0.731 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 0.100 None 0 0
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		Q9H2X9 solute carrier family 12 member 5 Transporter 135 0.570 0.654 1.00 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1 		Q9NUN5 LMBR1 domain containing 1 34 0.716 0.385 9.0E-11 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP 		P07602 prosaposin 189 0.532 0.846 0.99 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.100 None 0 0