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: 54888
Gene Symbol: NSUN2
NSUN2
NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 moderate 1.000 10 0 2011 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 None 1.000 5 0 2001 2019
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: 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 3 0 2011 2016
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 3 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 3 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: 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: 3735
Gene Symbol: KARS1
KARS1
lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 2015 2017
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: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 strong 1.000 2 0 1996 2005
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 2012 2019
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: 84735
Gene Symbol: CNDP1
CNDP1
carnosine dipeptidase 1 0.656 0.538 1.2E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 2 0 1972 1973
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 0.963 2 1 2000 2020
Entrez Id: 4212
Gene Symbol: MEIS2
MEIS2
Meis homeobox 2 0.601 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.460 strong 1.000 2 0 2007 2020
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: 221692
Gene Symbol: PHACTR1
PHACTR1
phosphatase and actin regulator 1 0.663 0.423 0.64
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 2 0 2017 2018
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.510 strong 1.000 2 0 2002 2019
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
transient receptor potential cation channel subfamily M member 3 0.663 0.769 5.7E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 1.000 2 0 2017 2019
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: 7372
Gene Symbol: UMPS
UMPS
uridine monophosphate synthetase 0.584 0.615 1.1E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 1997 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: 23499
Gene Symbol: MACF1
MACF1
microtubule actin crosslinking factor 1 0.659 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 2006 2018
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