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: 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: 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: 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: 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: 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: 2741
Gene Symbol: GLRA1
GLRA1
glycine receptor alpha 1 0.628 0.500 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 moderate 1.000 2 0 1992 2017
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: 58499
Gene Symbol: ZNF462
ZNF462
zinc finger protein 462 0.711 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.320 strong 1.000 1 0 2003 2017
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2004 2004
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 1725
Gene Symbol: DHPS
DHPS
deoxyhypusine synthase 0.670 0.538 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2012 2012
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
zinc finger protein 335 0.711 0.462 6.9E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 26960
Gene Symbol: NBEA
NBEA
neurobeachin 0.760 0.538 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2013 2013
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: 6712
Gene Symbol: SPTBN2
SPTBN2
spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.440 moderate 1.000 1 0 2013 2019