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: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 None 1.000 1 0 2000 2016
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
HIVEP zinc finger 2 0.711 0.500 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 limited 1.000 1 0 2015 2019
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: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 strong 1.000 1 0 2015 2020
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
phosphofurin acidic cluster sorting protein 1 0.603 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 None 1.000 2 0 2012 2019
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 strong 1.000 1 0 2012 2017
Entrez Id: 79882
Gene Symbol: ZC3H14
ZC3H14
zinc finger CCCH-type containing 14 0.691 0.308 0.88
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 limited 1.000 1 0 2011 2019
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 limited 1.000 1 0 2015 2019
Entrez Id: 51132
Gene Symbol: RLIM
RLIM
ring finger protein, LIM domain interacting 0.686 0.500 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 None 1.000 2 0 2009 2019
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 None 1.000 2 0 2014 2018
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 2012 2017
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: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 2015 2017
Entrez Id: 9439
Gene Symbol: MED23
MED23
mediator complex subunit 23 0.612 0.654 3.1E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 2011 2015
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
TBC1 domain family member 7 0.729 0.385 2.9E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 moderate 0.667 1 0 2013 2014
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 2018 2019
Entrez Id: 760
Gene Symbol: CA2
CA2
carbonic anhydrase 2 0.506 0.808 1.7E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 1991 2002
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.606 0.654 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 2011 2020
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 limited 1.000 1 0 2011 2017
Entrez Id: 6095
Gene Symbol: RORA
RORA
RAR related orphan receptor A 0.533 0.808 0.40
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 moderate 1.000 1 0 2018 2018
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 1 0 2012 2016
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5
potassium voltage-gated channel subfamily Q member 5 0.686 0.500 0.98
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 1 0 2017 2019
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L
LAS1 like ribosome biogenesis factor 0.682 0.654 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 limited 1.000 1 0 2016 2019
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
glutamic--pyruvic transaminase 2 0.650 0.577 3.4E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 1 0 2015 2018
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
chromosome alignment maintaining phosphoprotein 1 0.691 0.500 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 1 0 2015 2016