Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.200 None 1.000 0 0 2000 2018
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		transcription factor 4 0.464 0.846 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.180 None 1.000 0 0 2007 2016
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		myocyte enhancer factor 2C 0.517 0.769 1.7E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.180 None 1.000 0 0 2009 2016
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2 		solute carrier family 16 member 2 0.592 0.577 0.99
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.150 None 1.000 0 0 2006 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		forkhead box G1 0.522 0.692 0.94
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.140 None 1.000 0 0 2005 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		neurexin 1 0.581 0.692 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.130 None 1.000 0 0 2009 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.130 None 1.000 0 0 1994 2002
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		IQ motif and Sec7 domain ArfGEF 2 0.573 0.577 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.130 None 1.000 0 0 2014 2016
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.130 None 1.000 0 0 2006 2016
Entrez Id: 5053
Gene Symbol: PAH
PAH 		phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.130 None 1.000 0 0 1993 2015
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.130 None 1.000 0 0 2004 2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.130 None 1.000 0 0 2000 2012
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		ubiquitin conjugating enzyme E2 A 0.623 0.692 0.81
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.130 None 1.000 0 0 2010 2019
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2007 2018
Entrez Id: 1641
Gene Symbol: DCX
DCX 		doublecortin 0.511 0.769 0.30
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 1998 2016
Entrez Id: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2005 2008
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2013 2019
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2017 2018
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2009 2011
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2016 2017
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9 		Cdc42 guanine nucleotide exchange factor 9 0.691 0.385 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2011 2011
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2016 2017
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		p21 (RAC1) activated kinase 3 0.569 0.731 0.99
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2000 2020
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2014 2014
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		SATB homeobox 2 0.503 0.769 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.110 None 1.000 0 0 2017 2017