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: 440073
Gene Symbol: IQSEC3
IQSEC3
IQ motif and Sec7 domain ArfGEF 3 3.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2019 2019
Entrez Id: 55999
Gene Symbol: NXF4
NXF4
nuclear RNA export factor 4 pseudogene
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 79649
Gene Symbol: MAP7D3
MAP7D3
MAP7 domain containing 3 4.6E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 1989 1989
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: 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: 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: 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: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 2 0 2009 2018
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2015 2016
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 1 0 2015 2018
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 strong 1.000 1 0 2008 2019
Entrez Id: 23476
Gene Symbol: BRD4
BRD4
bromodomain containing 4 0.446 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
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: 6531
Gene Symbol: SLC6A3
SLC6A3
solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 2011 2016
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 2003 2018
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 2 0 2011 2016
Entrez Id: 23636
Gene Symbol: NUP62
NUP62
nucleoporin 62 0.470 0.885 0.95
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2006 2006
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: 59272
Gene Symbol: ACE2
ACE2
angiotensin I converting enzyme 2 0.477 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2015 2015
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: 407975
Gene Symbol: MIR17HG
MIR17HG
miR-17-92a-1 cluster host gene 0.483 0.808
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
LDL receptor related protein 2 0.491 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 2012 2016