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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.120 None 1.000 0 0 2017 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.190 None 1.000 0 0 2013 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 None 1.000 0 0 2001 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2014 2014
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.130 None 0.667 0 0 2003 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 0.667 0 0 2006 2009
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.200 None 1.000 0 0 1999 2019
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2018 2018
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
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 0 0 2015 2019
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 0 0 1994 2018
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None < 0.001 0 0 2007 2007
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.130 None 1.000 0 0 2017 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.120 None 1.000 0 0 1983 2015
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 0 0 2006 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.650 strong 1.000 0 0 2010 2017