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: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.440 strong 1.000 1 0 2000 2019
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 1 0 2013 2017
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2013 2019
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2017 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 1 0 2007 2017
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2019 2019
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: 4953
Gene Symbol: ODC1
ODC1
ornithine decarboxylase 1 0.510 0.731 0.17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 strong 1.000 1 0 2018 2018
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A
lysine demethylase 1A 0.512 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2016 2016
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: 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: 1000
Gene Symbol: CDH2
CDH2
cadherin 2 0.535 0.731 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2007 2007
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: 3098
Gene Symbol: HK1
HK1
hexokinase 1 0.542 0.731 0.91
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2017 2017
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: 10735
Gene Symbol: STAG2
STAG2
stromal antigen 2 0.568 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 1 0 2015 2019
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: 4781
Gene Symbol: NFIB
NFIB
nuclear factor I B 0.573 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
polycomb group ring finger 2 0.579 0.615 0.86
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2018 2018
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: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 10297
Gene Symbol: APC2
APC2
APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 1 0 2012 2019
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: 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