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: 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 4 1 2009 2016
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 1 2007 2016
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 1 2005 2019
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 1 1 2014 2016
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 1 2000 2012
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
sodium leak channel, non-selective 0.587 0.615 8.5E-14
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.120 None 1.000 1 1 2015 2019
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
zinc finger SWIM-type containing 6 0.626 0.577 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.120 None 1.000 1 1 2017 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.120 None 0.500 0 1 1999 2018
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.460 0.808 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.120 None 1.000 0 1 2018 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 3 1 1989 2019
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 1 1 2008 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 0 1 2017 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 81857
Gene Symbol: MED25
MED25
mediator complex subunit 25 0.582 0.654 8.4E-07
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 0 2 2015 2015
Entrez Id: 818
Gene Symbol: CAMK2G
CAMK2G
calcium/calmodulin dependent protein kinase II gamma 0.670 0.462 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 0 2 2011 2011
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 0 1 2009 2009
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
cytoplasmic FMR1 interacting protein 2 0.633 0.731 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.110 None 1.000 0 11 2016 2016
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
transmembrane protein 70 0.636 0.654 2.9E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.100 None 1.000 3 1 2008 2014
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
glutamate ionotropic receptor AMPA type subunit 3 0.566 0.692 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.100 None 0 1
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.100 None 0 1