Source: CLINVAR ×
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: 8450
Gene Symbol: CUL4B
CUL4B 		Q13620 cullin 4B Enzyme 12 0.556 0.769 1.00 0.340 None 1.000 0 1 2010 2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 29 0.452 0.808 1.00 0.200 None 1.000 0 1 1996 2017
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.200 None 1.000 0 2 1997 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.200 None 0.957 0 2 2000 2013
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		O60828 polyglutamine binding protein 1 Transcription factor 7 0.570 0.654 0.79 0.180 None 1.000 0 1 1992 2011
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 1 0.617 0.692 1.00 0.180 None 1.000 0 1 2000 2013
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 34 0.464 0.846 1.00 0.150 None 1.000 0 2 2007 2013
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2 		P36021 solute carrier family 16 member 2 Transporter 7 0.592 0.577 0.99 0.140 None 1.000 0 1 2006 2015
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1 		P51610 host cell factor C1 6 0.601 0.692 1.00 0.140 None 0.750 0 1 1992 2019
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		Q9UPP1 PHD finger protein 8 5 0.631 0.577 1.00 0.130 None 1.000 0 1 2005 2010
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 12 0.550 0.731 1.00 0.120 None 1.000 0 1 2006 2008
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		P41229 lysine demethylase 5C 12 0.581 0.538 1.00 0.120 None 1.000 0 2 2006 2009
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3 		Q9NZ94 neuroligin 3 7 0.653 0.462 0.98 0.120 None 1.000 0 1 2006 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 34 0.388 0.808 0.99 0.110 None 1.000 0 1 2011 2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 59 0.584 0.577 1.00 0.110 None 1.000 0 1 2009 2009
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		Q71F56 mediator complex subunit 13L 30 0.617 0.538 1.00 0.110 None 1.000 0 1 2003 2003
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		Q5JU85 IQ motif and Sec7 domain ArfGEF 2 10 0.573 0.577 1.00 0.110 None 1.000 0 1 1992 1992
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 51 0.666 0.615 1.5E-04 0.100 None 1.000 1 2 2016 2016
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		Q92581 solute carrier family 9 member A6 Transporter 21 0.516 0.846 1.00 0.100 None 0 1
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4 		P48058 glutamate ionotropic receptor AMPA type subunit 4 Ion channel 2 0.631 0.615 1.8E-02 0.100 None 0 5
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		Q9UGU0 transcription factor 20 Transcription factor 18 0.644 0.423 1.00 0.100 None 0 1
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		Q7Z5J4 retinoic acid induced 1 Transcription factor 22 0.545 0.731 1.00 0.100 None 0 1
Entrez Id: 361
Gene Symbol: AQP4
AQP4 		P55087 aquaporin 4 Ion channel 6 0.456 0.885 2.3E-03 0.100 None 0 1
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 13 0.561 0.692 0.98 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 18 0.682 0.423 1.00 0.100 None 0 1