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: 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: 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: 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: 1234
Gene Symbol: CCR5
CCR5 		P51681 C-C motif chemokine receptor 5 (gene/pseudogene) G-protein coupled receptor 508 0.398 0.885 4.3E-10 0.010 None < 0.001 1 0 2017 2017
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: 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: 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: 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: 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: 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: 4360
Gene Symbol: MRC1
MRC1 		P22897 mannose receptor C-type 1 431 0.413 0.846 0.94 0.010 None 1.000 1 0 2000 2000
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: 4803
Gene Symbol: NGF
NGF 		P01138 nerve growth factor Signaling 616 0.391 0.885 0.82 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		P42771 Q8N726 cyclin dependent kinase inhibitor 2A 1314 0.300 0.885 0.39 0.010 None 1.000 1 0 2006 2006
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1 		P49238 C-X3-C motif chemokine receptor 1 G-protein coupled receptor 310 0.457 0.885 6.1E-02 0.010 None < 0.001 1 0 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: 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: 1327
Gene Symbol: COX4I1
COX4I1 		P13073 cytochrome c oxidase subunit 4I1 32 0.691 0.500 0.39 0.010 None 1.000 1 0 2019 2019
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: 4684
Gene Symbol: NCAM1
NCAM1 		P13591 neural cell adhesion molecule 1 445 0.415 0.885 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 0.100 None 0 0
Entrez Id: 57531
Gene Symbol: HACE1
HACE1 		Q8IYU2 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Enzyme 95 0.601 0.692 6.1E-06 0.100 None 0 0
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 72 0.610 0.308 2.8E-05 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