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: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.140 None 1.000 4 1 2012 2012
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.050 None 1.000 5 0 2016 2019
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		Q8N2C7 unc-80 homolog, NALCN channel complex subunit 111 0.626 0.462 5.2E-02 0.040 None 1.000 4 3 2018 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.020 None 1.000 2 0 2009 2019
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.020 None 1.000 2 0 2010 2014
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 85 0.650 0.654 2.1E-15 0.020 None 1.000 2 1 2018 2019
Entrez Id: 9581
Gene Symbol: PREPL
PREPL 		Q4J6C6 prolyl endopeptidase like 58 0.644 0.538 2.2E-13 0.020 None 1.000 2 0 2011 2012
Entrez Id: 5697
Gene Symbol: PYY
PYY 		P10082 peptide YY Signaling 88 0.588 0.615 1.2E-02 0.010 None 1.000 1 0 2005 2005
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.010 None 1.000 1 0 2015 2015
Entrez Id: 57731
Gene Symbol: SPTBN4
SPTBN4 		Q9H254 spectrin beta, non-erythrocytic 4 35 0.686 0.462 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		P39019 ribosomal protein S19 Nucleic acid binding 256 0.480 0.846 0.92 0.010 None 1.000 1 0 1999 1999
Entrez Id: 100038247
Gene Symbol: PTLS
PTLS 		Potocki-Lupski syndrome 17 0.780 0.308 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		Q07837 solute carrier family 3 member 1 Transporter 84 0.593 0.731 7.2E-27 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2 		P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.010 None 1.000 1 0 2008 2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54893
Gene Symbol: MTMR10
MTMR10 		Q9NXD2 myotubularin related protein 10 Enzyme 3 0.931 0.154 1.9E-07 0.010 None 1.000 1 0 2010 2010
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54205
Gene Symbol: CYCS
CYCS 		P99999 cytochrome c, somatic 67 0.599 0.769 0.64 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7 		P36544 Q494W8 cholinergic receptor nicotinic alpha 7 subunit Ion channel 172 0.532 0.654 4.2E-04 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4 		P51793 chloride voltage-gated channel 4 Ion channel 114 0.587 0.654 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		P54259 atrophin 1 499 0.409 0.885 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		Q9Y2M0 FANCD2 and FANCI associated nuclease 1 93 0.610 0.577 1.7E-25 0.010 None 1.000 1 0 2010 2010
Entrez Id: 246329
Gene Symbol: STAC3
STAC3 		Q96MF2 SH3 and cysteine rich domain 3 69 0.633 0.654 1.7E-04 0.010 None 1.000 1 1 2017 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.010 None 1.000 1 0 2010 2010