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: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.670 strong 1.000 1 0 2006 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.650 strong 1.000 1 0 2010 2017
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.630 strong 1.000 1 0 2015 2018
Entrez Id: 3340
Gene Symbol: NDST1
NDST1
N-deacetylase and N-sulfotransferase 1 0.608 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 limited 1.000 1 0 2011 2014
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 strong 1.000 1 0 2016 2018
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
ER lipid raft associated 2 0.647 0.500 6.7E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 strong 1.000 1 0 2011 2011
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 None 1.000 1 0 2006 2020
Entrez Id: 7528
Gene Symbol: YY1
YY1
YY1 transcription factor 0.481 0.808 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 strong 1.000 1 0 2010 2010
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 None 1.000 1 0 2003 2019
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 strong 1.000 1 0 1996 2005
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.550 moderate 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: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.510 strong 1.000 1 0 2002 2019
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: 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: 7054
Gene Symbol: TH
TH
tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 2011 2016
Entrez Id: 84320
Gene Symbol: ACBD6
ACBD6
acyl-CoA binding domain containing 6 0.890 0.269 2.3E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 limited 1.000 1 0 2011 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 1989 2019
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 2006 2019
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 2009 2019
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: 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: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.480 None 1.000 1 0 2010 2018
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
patched domain containing 1 0.678 0.385 0.98
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.470 None 1.000 1 0 2010 2019
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.470 None 0.875 1 0 2010 2020