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: 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: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2011 2018
Entrez Id: 10256
Gene Symbol: CNKSR1
CNKSR1
connector enhancer of kinase suppressor of Ras 1 0.769 0.462 4.3E-30
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2011 2018
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: 55703
Gene Symbol: POLR3B
POLR3B
RNA polymerase III subunit B 0.628 0.654 1.7E-23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
WD repeat domain 62 0.597 0.615 2.4E-23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2011 2018
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: 10973
Gene Symbol: ASCC3
ASCC3
activating signal cointegrator 1 complex subunit 3 0.861 0.231 1.2E-20
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
elongator acetyltransferase complex subunit 2 0.716 0.538 4.2E-20
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2011 2015
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: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2011 2018
Entrez Id: 57231
Gene Symbol: SNX14
SNX14
sorting nexin 14 0.659 0.423 6.1E-17
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.330 None 1.000 1 0 2014 2016
Entrez Id: 4163
Gene Symbol: MCC
MCC
MCC regulator of WNT signaling pathway 0.568 0.731 4.7E-16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 1994 1994
Entrez Id: 131669
Gene Symbol: UROC1
UROC1
urocanate hydratase 1 0.780 0.385 2.1E-15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.510 moderate 1.000 1 0 2009 2019
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2011 2011
Entrez Id: 11132
Gene Symbol: CAPN10
CAPN10
calpain 10 0.621 0.577 6.9E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2011 2015
Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1
tRNA methyltransferase 1 0.821 0.269 1.9E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.520 strong 1.000 1 0 2011 2017
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
cell adhesion molecule L1 like 0.603 0.654 8.9E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 None 1.000 1 0 2003 2013
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2
tRNA splicing endonuclease subunit 2 0.705 0.423 1.0E-11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
dedicator of cytokinesis 8 0.578 0.731 1.5E-11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2008 2008
Entrez Id: 9923
Gene Symbol: ZBTB40
ZBTB40
zinc finger and BTB domain containing 40 0.890 0.231 1.1E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
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: 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: 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