Source: CTD_human

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 0.305 0.923 0.26
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 None 1.000 5 0 2001 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 1 0 1994 2018
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 1994 2001
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 1 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 1 0 2010 2017
Entrez Id: 142
Gene Symbol: PARP1
PARP1
poly(ADP-ribose) polymerase 1 0.389 0.923 3.3E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 0.963 2 0 2000 2020
Entrez Id: 796
Gene Symbol: CALCA
CALCA
calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2001 2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2001 2004
Entrez Id: 7432
Gene Symbol: VIP
VIP
vasoactive intestinal peptide 0.437 0.846 4.2E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2001 2001
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 None 1.000 1 0 1992 2011
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 1 0 2014 2018
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.550 moderate 1.000 1 0 2011 2015
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 1989 2019
Entrez Id: 7054
Gene Symbol: TH
TH
tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 2011 2016
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
adrenoceptor alpha 2B 0.465 0.846 4.5E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2011 2011
Entrez Id: 1630
Gene Symbol: DCC
DCC
DCC netrin 1 receptor 0.471 0.808 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2017 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 0.989 2 0 1992 2020
Entrez Id: 2194
Gene Symbol: FASN
FASN
fatty acid synthase 0.474 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 1 0 2012 2017
Entrez Id: 7528
Gene Symbol: YY1
YY1
YY1 transcription factor 0.481 0.808 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 strong 1.000 1 0 2010 2010
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
histone deacetylase 4 0.484 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 None 1.000 1 0 2010 2016
Entrez Id: 953
Gene Symbol: ENTPD1
ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1 0.499 0.769 8.1E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2011 2011
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.503 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 2 0 2010 2014