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: 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 1 0 2010 2018
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
RAB39B, member RAS oncogene family 0.619 0.615 0.83
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.460 None 1.000 1 0 2010 2017
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: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 None 1.000 2 0 2012 2018
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 None 1.000 1 0 2003 2019
Entrez Id: 80185
Gene Symbol: TTI2
TTI2
TELO2 interacting protein 2 0.736 0.346 3.6E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 None 1.000 1 0 2011 2019
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: 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: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 None 1.000 1 0 2010 2019
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
TATA-box binding protein associated factor 2 0.743 0.308 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 1 0 2011 2013
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
lines homolog 1 0.691 0.231 2.4E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 1 0 2011 2017
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 1 0 2007 2009
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: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.545 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 1 0 2010 2016
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: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 1 0 2011 2019
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
chromosome 12 open reading frame 57 0.641 0.500 5.2E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 1 0 2011 2018
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
Entrez Id: 23152
Gene Symbol: CIC
CIC
capicua transcriptional repressor 0.523 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 2 0 2010 2018
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 1998 2011
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2011 2016
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2006 2011
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: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2011 2019
Entrez Id: 767
Gene Symbol: CA8
CA8
carbonic anhydrase 8 0.595 0.654 8.3E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2011 2013