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: 7337
Gene Symbol: UBE3A
UBE3A 		Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 1.000 definitive 0.967 180 122 1997 2020
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.520 strong 1.000 3 0 2004 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.500 strong 0.917 12 9 2001 2014
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 139 0.546 0.615 0.95 0.400 None 1.000 23 0 1991 2019
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN 		P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 183 0.538 0.731 4.3E-02 0.300 None 0.971 35 0 1994 2017
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14 		small nucleolar RNA host gene 14 44 0.656 0.577 0.170 None 1.000 17 122 1999 2019
Entrez Id: 3093
Gene Symbol: UBE2K
UBE2K 		P61086 ubiquitin conjugating enzyme E2 K 58 0.631 0.654 0.99 0.100 None 0.938 16 0 1997 2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2 		Q8N7E2 Cbl proto-oncogene like 2 Enzyme 235 0.476 0.808 0.100 None 1.000 10 0 2004 2019
Entrez Id: 79594
Gene Symbol: MUL1
MUL1 		Q969V5 mitochondrial E3 ubiquitin protein ligase 1 241 0.473 0.808 1.9E-06 0.100 None 1.000 10 0 2004 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 409 0.431 0.846 6.9E-07 0.100 None 1.000 10 0 2004 2019
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 145 0.584 0.577 1.00 0.100 None 0 1
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		P30531 solute carrier family 6 member 1 Transporter 106 0.592 0.538 1.00 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.100 None 0 1
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3 		O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 84 0.604 0.462 0.80 0.100 None 0 1
Entrez Id: 8926
Gene Symbol: SNURF
SNURF 		P63162 Q9Y675 SNRPN upstream reading frame 63 0.623 0.538 0.46 0.080 None 1.000 8 0 1994 2010
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.070 None 1.000 7 0 1993 2016
Entrez Id: 7681
Gene Symbol: MKRN3
MKRN3 		Q13064 makorin ring finger protein 3 Enzyme 92 0.619 0.615 0.28 0.060 None 1.000 6 0 1993 1996
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		Q92581 solute carrier family 9 member A6 Transporter 210 0.516 0.846 1.00 0.050 None 1.000 5 0 2008 2014
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.040 None 1.000 4 0 1998 2012
Entrez Id: 2567
Gene Symbol: GABRG3
GABRG3 		Q99928 gamma-aminobutyric acid type A receptor subunit gamma3 Ion channel 25 0.711 0.423 0.85 0.030 None 1.000 3 0 2001 2019
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.030 None 1.000 3 0 2010 2014
Entrez Id: 692236
Gene Symbol: SNORD116@
SNORD116@ 		small nucleolar RNA, C/D box 116 cluster 33 0.705 0.692 0.030 None 1.000 3 0 2010 2013
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 143 0.568 0.692 1.00 0.030 None 1.000 3 0 2012 2016
Entrez Id: 4157
Gene Symbol: MC1R
MC1R 		Q01726 melanocortin 1 receptor G-protein coupled receptor 183 0.524 0.808 8.1E-11 0.020 None 1.000 2 0 2010 2011
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 0.500 2 0 2013 2017