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: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.200 None 1.000 10 0 2010 2020
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		Q9Y484 WD repeat domain 45 72 0.647 0.423 0.99 0.160 None 1.000 6 2 2015 2020
Entrez Id: 1801
Gene Symbol: DPH1
DPH1 		Q9BZG8 diphthamide biosynthesis 1 51 0.653 0.538 8.0E-17 0.140 None 1.000 4 1 2005 2020
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.140 None 1.000 4 0 2002 2020
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2 		Q9NTI2 ATPase phospholipid transporting 8A2 Transporter 55 0.659 0.577 1.2E-12 0.020 None 1.000 2 0 2018 2020
Entrez Id: 81609
Gene Symbol: SNX27
SNX27 		Q96L92 sorting nexin 27 24 0.722 0.346 1.00 0.310 None 1.000 2 0 2013 2020
Entrez Id: 140821
Gene Symbol: RSS
RSS 		Russell Silver syndrome 103 0.578 0.692 0.010 None 1.000 1 0 2020 2020
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.110 None 1.000 1 1 2020 2020
Entrez Id: 26007
Gene Symbol: TKFC
TKFC 		Q3LXA3 triokinase and FMN cyclase 8 0.839 0.192 3.2E-12 0.300 None 1.000 1 0 2020 2020
Entrez Id: 26278
Gene Symbol: SACS
SACS 		Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.010 None 1.000 1 0 2020 2020
Entrez Id: 2747
Gene Symbol: GLUD2
GLUD2 		P49448 glutamate dehydrogenase 2 Enzyme 52 0.678 0.423 3.2E-02 0.010 None 1.000 1 0 2020 2020
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 447 0.424 0.846 1.00 0.110 None 1.000 1 0 2020 2020
Entrez Id: 5816
Gene Symbol: PVALB
PVALB 		P20472 parvalbumin Calcium-binding protein 148 0.547 0.692 8.7E-02 0.010 None 1.000 1 0 2020 2020
Entrez Id: 6611
Gene Symbol: SMS
SMS 		P52788 spermine synthase 263 0.491 0.846 0.97 0.010 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		Q16851 UDP-glucose pyrophosphorylase 2 26 0.711 0.308 1.4E-08 0.300 None 1.000 1 0 2020 2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		Q9H7Z6 lysine acetyltransferase 8 80 0.592 0.654 0.22 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		Q14671 pumilio RNA binding family member 1 Nucleic acid binding 60 0.653 0.654 1.00 0.300 None 1.000 1 0 2020 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.100 None 1.000 21 0 2005 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.200 None 1.000 12 2 2008 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.180 None 1.000 8 19 2006 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.440 strong 1.000 8 3 2000 2019
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		Q96Q11 tRNA nucleotidyl transferase 1 40 0.700 0.192 1.6E-04 0.160 None 1.000 6 0 2014 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.150 None 1.000 6 4 2010 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.060 None 1.000 6 0 2011 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.440 moderate 1.000 5 0 2013 2019