Source: INFERRED

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: 153201
Gene Symbol: SLC36A2
SLC36A2
solute carrier family 36 member 2 0.861 0.154 6.2E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 197257
Gene Symbol: LDHD
LDHD
lactate dehydrogenase D 0.861 0.308 1.3E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 2036
Gene Symbol: EPB41L1
EPB41L1
erythrocyte membrane protein band 4.1 like 1 0.839 0.192 0.88
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2011 2011
Entrez Id: 51116
Gene Symbol: MRPS2
MRPS2
mitochondrial ribosomal protein S2 0.839 0.154 3.1E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE
trimethyllysine hydroxylase, epsilon 0.821 0.231 8.0E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2012 2012
Entrez Id: 54112
Gene Symbol: GPR88
GPR88
G protein-coupled receptor 88 0.805 0.115 0.75
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 54716
Gene Symbol: SLC6A20
SLC6A20
solute carrier family 6 member 20 0.805 0.269 2.7E-17
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 80311
Gene Symbol: KLHL15
KLHL15
kelch like family member 15 0.805 0.192 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2016 2016
Entrez Id: 85015
Gene Symbol: USP45
USP45
ubiquitin specific peptidase 45 0.792 0.154 1.4E-17
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
aldehyde dehydrogenase 4 family member A1 0.792 0.231 1.4E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 0 0 2016 2016
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 0 0 2012 2014
Entrez Id: 11133
Gene Symbol: KPTN
KPTN
kaptin, actin binding protein 0.769 0.192 1.1E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2015 2015
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 moderate 1.000 0 0 2015 2015
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 0 0 2018 2019
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
TATA-box binding protein associated factor 6 0.769 0.308 8.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 0 0 2015 2015
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB
peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 201595
Gene Symbol: STT3B
STT3B
STT3 oligosaccharyltransferase complex catalytic subunit B 0.760 0.385 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2013 2013
Entrez Id: 2653
Gene Symbol: GCSH
GCSH
glycine cleavage system protein H 0.760 0.385 1.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240
transmembrane protein 240 0.760 0.231 0.23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2014 2014
Entrez Id: 57609
Gene Symbol: DIP2B
DIP2B
disco interacting protein 2 homolog B 0.760 0.308 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2007 2007
Entrez Id: 84189
Gene Symbol: SLITRK6
SLITRK6
SLIT and NTRK like family member 6 0.760 0.269 5.7E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 132158
Gene Symbol: GLYCTK
GLYCTK
glycerate kinase 0.751 0.308 9.7E-11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
metabolism of cobalamin associated D 0.751 0.385 2.1E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 84188
Gene Symbol: FAR1
FAR1
fatty acyl-CoA reductase 1 0.751 0.423 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 1174
Gene Symbol: AP1S1
AP1S1
adaptor related protein complex 1 subunit sigma 1 0.743 0.308 1.0E-01
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2014 2014