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: 28514
Gene Symbol: DLL1
DLL1
delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2019 2019
Entrez Id: 6898
Gene Symbol: TAT
TAT
tyrosine aminotransferase 0.492 0.846 6.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 1982 2017
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: 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
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: 6418
Gene Symbol: SET
SET
SET nuclear proto-oncogene 0.507 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 2017 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 strong 1.000 1 0 2007 2018
Entrez Id: 4953
Gene Symbol: ODC1
ODC1
ornithine decarboxylase 1 0.510 0.731 0.17
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2018 2018
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: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2013 2013
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2014 2014
Entrez Id: 445
Gene Symbol: ASS1
ASS1
argininosuccinate synthase 1 0.523 0.731 1.5E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2009 2009
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 2 0 2013 2016
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 2008 2014
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2011 2011
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2011 2011
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12
SUZ12 polycomb repressive complex 2 subunit 0.529 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2019 2019
Entrez Id: 4929
Gene Symbol: NR4A2
NR4A2
nuclear receptor subfamily 4 group A member 2 0.529 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 1.000 1 0 1979 2018
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
cystatin B 0.530 0.692 6.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 moderate 1.000 1 0 2016 2016
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: 1000
Gene Symbol: CDH2
CDH2
cadherin 2 0.535 0.731 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 1.000 1 0 2007 2019
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.330 limited 1.000 1 0 2013 2018