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: 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: 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: 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: 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: 200403
Gene Symbol: VWA3B
VWA3B
von Willebrand factor A domain containing 3B 0.729 0.154 9.7E-28
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2016 2016
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: 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: 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: 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: 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: 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: 11212
Gene Symbol: PLPBP
PLPBP
pyridoxal phosphate binding protein 0.736 0.231 4.0E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
methyltransferase like 23 0.682 0.231 1.3E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 0 0 2014 2014
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.695 0.231 7.4E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2017 2017
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
ferric chelate reductase 1 like 0.666 0.231 1.5E-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: 339855
Gene Symbol: KY
KY
kyphoscoliosis peptidase 0.736 0.231 1.5E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 4337
Gene Symbol: MOCS1
MOCS1
molybdenum cofactor synthesis 1 0.743 0.231 9.1E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
lines homolog 1 0.691 0.231 2.4E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 None 1.000 0 0 2011 2017
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: 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: 1203
Gene Symbol: CLN5
CLN5
CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
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 0 0 1996 2005