Source: INFERRED

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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.630 strong 1.000 0 0 2001 2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.350 0.724 9.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong < 0.001 0 0 2009 2009
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.355 0.862 0.98
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 moderate 1.000 0 0 2015 2015
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.355 0.828 0.29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 0 0 2004 2010
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.382 0.828 0.70
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 1.000 0 0 1995 2010
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.387 0.862 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.388 0.759 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 0 0 2017 2017
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.388 0.828 0.14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.393 0.828 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 moderate 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.398 0.759 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 strong 1.000 0 0 2006 2013
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.399 0.793 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 0 0 2016 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.470 strong 0.857 0 0 1997 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 0 0 1983 2016
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.416 0.828 7.2E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 0 0
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.417 0.759 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 strong 1.000 0 0 2015 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 0 0 1987 2015
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.418 0.724 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.420 0.690 0.53
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.421 0.759 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 0 0 2018 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 0 0
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.430 0.862 6.2E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.150 0.800 0 0 2004 2015
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.430 0.759 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 0 0 2012 2015
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.431 0.793 0.14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 moderate 0 0