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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 201595
Gene Symbol: STT3B
STT3B
STT3 oligosaccharyltransferase complex catalytic subunit B 0.760 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 limited 1.000 1 0 2013 2013
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: 5455
Gene Symbol: POU3F3
POU3F3
POU class 3 homeobox 3 0.682 0.615 0.88
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 strong 1.000 1 0 2014 2014
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: 8733
Gene Symbol: GPAA1
GPAA1
glycosylphosphatidylinositol anchor attachment 1 0.647 0.538 5.5E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 1 0 2014 2014
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: 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: 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: 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: 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: 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