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: 9330
Gene Symbol: GTF3C3
GTF3C3
general transcription factor IIIC subunit 3 1.000 7.0E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2019 2019
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: 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: 318
Gene Symbol: NUDT2
NUDT2
nudix hydrolase 2 0.780 0.154 5.7E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 strong 1.000 2 0 2012 2019
Entrez Id: 11198
Gene Symbol: SUPT16H
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit 0.861 0.192 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 None 1.000 1 0 1979 2016
Entrez Id: 192683
Gene Symbol: SCAMP5
SCAMP5
secretory carrier membrane protein 5 0.839 0.192 0.65
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2010 2010
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: 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: 4081
Gene Symbol: MAB21L1
MAB21L1
mab-21 like 1 0.736 0.192 0.29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 57700
Gene Symbol: FAM160B1
FAM160B1
family with sequence similarity 160 member B1 0.861 0.192 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 limited 1.000 1 0 2019 2019
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: 1173
Gene Symbol: AP2M1
AP2M1
adaptor related protein complex 2 subunit mu 1 0.751 0.231 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 22884
Gene Symbol: WDR37
WDR37
WD repeat domain 37 0.751 0.231 0.57
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
thioredoxin related transmembrane protein 2 0.821 0.231 0.65
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
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: 57551
Gene Symbol: TAOK1
TAOK1
TAO kinase 1 0.792 0.269 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 79576
Gene Symbol: NKAP
NKAP
NFKB activating protein 0.760 0.269 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR
heterogeneous nuclear ribonucleoprotein R 0.722 0.308 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.678 0.308 7.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2006 2006
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: 7812
Gene Symbol: CSDE1
CSDE1
cold shock domain containing E1 0.769 0.308 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13
ring finger protein 13 0.722 0.346 4.0E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2
gamma-aminobutyric acid type A receptor subunit alpha2 0.641 0.346 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 strong 1.000 1 0 1978 2018
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