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: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 None 1.000 0 1 2011 2018
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 1.000 3 1 1999 2012
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 1.000 1 10 2002 2016
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 1.000 0 1 2009 2017
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 1.000 0 1 2015 2019
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
diphthamide biosynthesis 1 0.653 0.538 8.0E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 1.000 0 1 2005 2020
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 1.000 0 1 2016 2018
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
potassium voltage-gated channel subfamily B member 1 0.650 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 2 2 2015 2017
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 0 2 2016 2019
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 0.667 0 1 2013 2019
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 0 1 2015 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 0 4 2015 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 0 1 2008 2018
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
lysine acetyltransferase 6A 0.560 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 0 1 2015 2019
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 0 10 2016 2018
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 0 1 2016 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 7 3 2005 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 2 3 2011 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 2 1 2013 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 2 4 2012 2019
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 1 2 2017 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 1 1 2005 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 1 1 2016 2017
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 1 1 2016 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 0 3 2015 2019