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: 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: 9758
Gene Symbol: FRMPD4
FRMPD4
FERM and PDZ domain containing 4 0.674 0.423 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 2 0 2016 2018
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: 10771
Gene Symbol: ZMYND11
ZMYND11
zinc finger MYND-type containing 11 0.647 0.500 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.340 None 0.800 2 0 2014 2020
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: 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: 58508
Gene Symbol: KMT2C
KMT2C
lysine methyltransferase 2C 0.558 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 2 0 2012 2017
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 None 1.000 2 0 2015 2020
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: 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: 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: 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: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 None 1.000 2 0 2006 2020
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP
transformation/transcription domain associated protein 0.572 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 2 0 2017 2019
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4
potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2018 2018
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
protein phosphatase 1 regulatory subunit 12A 0.626 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 1993 2020
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 None 1.000 1 0 2003 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: 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: 253959
Gene Symbol: RALGAPA1
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1 0.861 0.231 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2020 2020
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: 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: 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: 4330
Gene Symbol: MN1
MN1
MN1 proto-oncogene, transcriptional regulator 0.682 0.385 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2005 2015