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: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 26 0 1996 2019
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 17 0 2012 2019
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 17 0 2006 2019
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 None 1.000 16 1 2006 2020
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 None 1.000 14 0 2003 2019
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 14 2 1996 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 13 0 2008 2018
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 13 0 1995 2020
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 13 1 2000 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0.917 12 0 1991 2019
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 12 0 2007 2019
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 12 0 2009 2019
Entrez Id: 6594
Gene Symbol: SMARCA1
SMARCA1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 0.504 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 1.000 11 0 2012 2019
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.480 None 1.000 9 0 2010 2018
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.490 None 1.000 9 0 2014 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.190 None 1.000 9 0 2010 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.190 None 0.889 9 0 1997 2019
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.190 None 1.000 9 0 2014 2020
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.190 None 1.000 9 0 2008 2018
Entrez Id: 23040
Gene Symbol: MYT1L
MYT1L
myelin transcription factor 1 like 0.659 0.462 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.470 strong 1.000 8 0 2011 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.180 None 1.000 8 0 2009 2019
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
cullin 4B 0.556 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.180 None 1.000 8 0 2010 2017
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.170 None 1.000 7 0 2004 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.470 strong 1.000 7 1 2015 2019
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.470 None 1.000 7 2 2010 2018