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: 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: 84735
Gene Symbol: CNDP1
CNDP1
carnosine dipeptidase 1 0.656 0.538 1.2E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 2 0 1972 1973
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: 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: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 2 0 2008 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: 6000
Gene Symbol: RGS7
RGS7
regulator of G protein signaling 7 0.722 0.462 0.78
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
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: 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: 5927
Gene Symbol: KDM5A
KDM5A
lysine demethylase 5A 0.597 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2011 2019
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: 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: 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: 65084
Gene Symbol: TMEM135
TMEM135
transmembrane protein 135 0.751 0.346 0.78
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
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: 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: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2016 2016
Entrez Id: 5900
Gene Symbol: RALGDS
RALGDS
ral guanine nucleotide dissociation stimulator 0.722 0.462 0.89
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.490 None 1.000 1 0 2014 2019
Entrez Id: 54856
Gene Symbol: GON4L
GON4L
gon-4 like 0.861 0.269 0.95
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 55148
Gene Symbol: UBR7
UBR7
ubiquitin protein ligase E3 component n-recognin 7 0.861 0.231 0.49
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2011 2011
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: 55212
Gene Symbol: BBS7
BBS7
Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2011 2011