Source: GENOMICS_ENGLAND

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 0 0 2006 2019
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
trio Rho guanine nucleotide exchange factor 0.556 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 0 0 2016 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.330 strong 1.000 0 0 2013 2016
Entrez Id: 55074
Gene Symbol: OXR1
OXR1
oxidation resistance 1 0.780 0.462 0.84
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 0 0 2019 2019
Entrez Id: 64216
Gene Symbol: TFB2M
TFB2M
transcription factor B2, mitochondrial 0.861 0.231 8.8E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 0 0
Entrez Id: 390168
Gene Symbol: OR5M1
OR5M1
olfactory receptor family 5 subfamily M member 1 1.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 0 0
Entrez Id: 200424
Gene Symbol: TET3
TET3
tet methylcytosine dioxygenase 3 0.633 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 0 0
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: 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: 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: 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: 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: 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: 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: 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: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 strong 1.000 1 0 2006 2019
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: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 1998 2019
Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A
PHD finger protein 21A 0.682 0.500 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.470 strong 1.000 1 0 2012 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.470 strong 1.000 1 0 2015 2019
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.460 strong 1.000 1 0 2013 2019