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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.700 strong 0.944 0 0 1999 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.479 0.655 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.700 strong 1.000 0 0 1989 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.667 0.345 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.680 strong 1.000 0 0 2009 2016
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1, transcription factor 0.600 0.552 1.5E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.660 strong 0.833 0 0 2010 2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.596 0.552 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.660 strong 1.000 0 0 2010 2018
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
patched domain containing 1 0.743 0.172 0.98
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.650 strong 1.000 0 0 2010 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.561 0.483 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.650 strong 1.000 0 0 2010 2015
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.624 0.552 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.650 strong 1.000 0 0 2012 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.441 0.690 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.640 strong 1.000 0 0 2010 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.557 0.552 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.640 strong 1.000 0 0 2006 2016
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
RAB39B, member RAS oncogene family 0.676 0.276 0.83
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.640 strong 1.000 0 0 2010 2016
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.546 0.655 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.630 strong 1.000 0 0 2003 2014
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: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.630 strong 1.000 0 0 1992 2018
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
lines homolog 1 0.799 0.207
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.620 strong 1.000 0 0 2012 2017
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
TATA-box binding protein associated factor 2 0.735 0.276 1.7E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.620 strong 1.000 0 0 2012 2016
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
histone deacetylase 4 0.558 0.655 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.620 strong 0.500 0 0 2010 2015
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.667 0.345 8.1E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.620 strong 1.000 0 0 2010 2015
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
stimulated by retinoic acid 6 0.614 0.655 6.8E-11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.620 strong 1.000 0 0 2007 2009
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.443 0.793 0.71
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.620 strong 1.000 0 0 2002 2005
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: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.565 0.793 1.0E-24
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 strong 1.000 0 0 2004 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.506 0.517 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 strong 1.000 0 0 2012 2017
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
collagen and calcium binding EGF domains 1 0.611 0.655 2.0E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 strong 1.000 0 0 2010 2015
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.558 0.621 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 strong 1.000 0 0 2010 2012