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: 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: 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: 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: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.619 0.654 9.0E-34
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 moderate 1.000 1 0 2018 2018
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: 392636
Gene Symbol: AGMO
AGMO
alkylglycerol monooxygenase 0.780 0.423 6.8E-26
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 2 0 2016 2019
Entrez Id: 26278
Gene Symbol: SACS
SACS
sacsin molecular chaperone 0.606 0.654 1.1E-23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 limited 1.000 1 0 2016 2016
Entrez Id: 10531
Gene Symbol: PITRM1
PITRM1
pitrilysin metallopeptidase 1 0.821 0.308 5.9E-21
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2016 2018
Entrez Id: 471
Gene Symbol: ATIC
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.576 0.731 3.0E-19
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
armadillo repeat containing 9 0.612 0.731 6.2E-17
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 2017 2018
Entrez Id: 8558
Gene Symbol: CDK10
CDK10
cyclin dependent kinase 10 0.650 0.577 1.2E-16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2019 2019
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
tectonic family member 1 0.597 0.615 1.1E-15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2012 2012
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 2 0 2009 2019
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1
farnesyl-diphosphate farnesyltransferase 1 0.621 0.615 4.1E-15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 55998
Gene Symbol: NXF5
NXF5
nuclear RNA export factor 5 0.805 0.346 3.7E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 limited 1.000 1 0 2001 2013
Entrez Id: 9581
Gene Symbol: PREPL
PREPL
prolyl endopeptidase like 0.644 0.538 2.2E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2014 2014
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
protocadherin 12 0.722 0.346 2.9E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 4 0 2008 2019
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: 9204
Gene Symbol: ZMYM6
ZMYM6
zinc finger MYM-type containing 6 0.931 0.115 6.3E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
ATPase phospholipid transporting 8A2 0.659 0.577 1.2E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 2018 2019
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: 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