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: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 None 1.000 2 0 2008 2016
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP
transformation/transcription domain associated protein 0.572 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 None 1.000 2 0 2017 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 2 0 2017 2018
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 None 1.000 2 0 2015 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2019 2019
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: 4330
Gene Symbol: MN1
MN1
MN1 proto-oncogene, transcriptional regulator 0.682 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 None 1.000 1 0 2005 2015
Entrez Id: 81609
Gene Symbol: SNX27
SNX27
sorting nexin 27 0.722 0.346 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 None 1.000 1 0 2013 2020
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 None 1.000 1 0 2015 2018
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: 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: 23512
Gene Symbol: SUZ12
SUZ12
SUZ12 polycomb repressive complex 2 subunit 0.529 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 None 1.000 1 0 2019 2019
Entrez Id: 9698
Gene Symbol: PUM1
PUM1
pumilio RNA binding family member 1 0.653 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
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: 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: 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: 28514
Gene Symbol: DLL1
DLL1
delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 None 1.000 1 0 2019 2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 None 1.000 1 0 2019 2019
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 55074
Gene Symbol: OXR1
OXR1
oxidation resistance 1 0.780 0.462 0.84
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 200424
Gene Symbol: TET3
TET3
tet methylcytosine dioxygenase 3 0.633 0.615 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 0 0
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
calcium voltage-gated channel subunit alpha1 B 0.650 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 2 0 2015 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: 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: 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