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: 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: 10297
Gene Symbol: APC2
APC2
APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2012 2012
Entrez Id: 22985
Gene Symbol: ACIN1
ACIN1
apoptotic chromatin condensation inducer 1 0.751 0.308 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2015 2015
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: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2014 2014
Entrez Id: 26523
Gene Symbol: AGO1
AGO1
argonaute RISC component 1 0.656 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 1.000 1 0 2018 2019
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: 55870
Gene Symbol: ASH1L
ASH1L
ASH1 like histone lysine methyltransferase 0.623 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 2 0 2017 2019
Entrez Id: 460
Gene Symbol: ASTN1
ASTN1
astrotactin 1 0.736 0.308 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2015 2015
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
atlastin GTPase 1 0.593 0.654 0.98
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 476
Gene Symbol: ATP1A1
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1 0.601 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2018 2018
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: 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: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 1 0 2015 2018
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 10295
Gene Symbol: BCKDK
BCKDK
branched chain keto acid dehydrogenase kinase 0.769 0.154 5.7E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 2012 2014
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: 2972
Gene Symbol: BRF1
BRF1
BRF1 RNA polymerase III transcription initiation factor subunit 0.700 0.462 1.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2015 2015
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3
bromodomain and WD repeat domain containing 3 0.716 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.350 strong 1.000 1 0 2014 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: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2017 2017
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: 774
Gene Symbol: CACNA1B
CACNA1B
calcium voltage-gated channel subunit alpha1 B 0.650 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 2 0 2015 2019
Entrez Id: 777
Gene Symbol: CACNA1E
CACNA1E
calcium voltage-gated channel subunit alpha1 E 0.650 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2018 2018