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: 221692
Gene Symbol: PHACTR1
PHACTR1
phosphatase and actin regulator 1 0.663 0.423 0.64
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 2 0 2017 2017
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
STT3 oligosaccharyltransferase complex catalytic subunit A 0.670 0.577 2.0E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 limited 1.000 1 0 2013 2013
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20
TBC1 domain family member 20 0.621 0.500 0.93
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2015 2015
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.666 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2015 2015
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: 54676
Gene Symbol: GTPBP2
GTPBP2
GTP binding protein 2 0.736 0.423 0.32
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2014 2014
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: 8560
Gene Symbol: DEGS1
DEGS1
delta 4-desaturase, sphingolipid 1 0.621 0.731 0.14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2019 2019
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: 116461
Gene Symbol: TSEN15
TSEN15
tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 1 0 2015 2015
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: 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: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 1 0 2019 2019
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: 9758
Gene Symbol: FRMPD4
FRMPD4
FERM and PDZ domain containing 4 0.674 0.423 1.00
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: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 None 1.000 1 0 2015 2015
Entrez Id: 80856
Gene Symbol: LNPK
LNPK
lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
chromodomain helicase DNA binding protein 3 0.670 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
tripartite motif containing 8 0.588 0.731 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2013 2013
Entrez Id: 8604
Gene Symbol: SLC25A12
SLC25A12
solute carrier family 25 member 12 0.711 0.462 0.22
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2016 2016
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: 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: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2019 2019
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