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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2008 2017
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
collagen and calcium binding EGF domains 1 0.585 0.769 1.5E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2009 2015
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
methyltransferase like 23 0.682 0.231 1.3E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2014 2014