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: 51594
Gene Symbol: NBAS
NBAS
NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.320 strong 1.000 1 0 2015 2017
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
trafficking protein particle complex 12 0.751 0.385 5.4E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 limited 1.000 1 0 2013 2019
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1
tRNA methyltransferase 1 0.821 0.269 1.9E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 9488
Gene Symbol: PIGB
PIGB
phosphatidylinositol glycan anchor biosynthesis class B 0.839 0.038 3.9E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1
tRNA isopentenyltransferase 1 0.621 0.692 4.1E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 26173
Gene Symbol: INTS1
INTS1
integrator complex subunit 1 0.666 0.500 7.1E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM
prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 2 0 2014 2019
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 2 0 2015 2017
Entrez Id: 8733
Gene Symbol: GPAA1
GPAA1
glycosylphosphatidylinositol anchor attachment 1 0.647 0.538 5.5E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
pyridoxamine 5'-phosphate oxidase 0.659 0.500 1.1E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 1 0 2005 2005
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 83480
Gene Symbol: PUS3
PUS3
pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 None 1.000 1 0 2014 2014
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 None 1.000 1 0 2009 2009
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 1989 1989
Entrez Id: 4047
Gene Symbol: LSS
LSS
lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.588 0.654 3.0E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 1 0 2017 2017
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
transient receptor potential cation channel subfamily M member 3 0.663 0.769 5.7E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 2 0 2017 2019