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: 23334
Gene Symbol: SZT2
SZT2
SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 limited 1.000 0 2 2013 2019
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 0 1 2015 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 0 1 2008 2016
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 0 1 2019 2019
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 0 1 2015 2015
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
diaphanous related formin 1 0.623 0.654 0.92
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 0 1 2016 2016
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 0 1 2015 2017
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
transient receptor potential cation channel subfamily M member 3 0.663 0.769 5.7E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 0 1 2017 2019
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 0 1 2013 2013
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 0 1 2017 2017
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 0 2 2018 2018
Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3 0.682 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 0 1 2017 2017
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Rho related BTB domain containing 2 0.631 0.615 1.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 0 1 2016 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.200 None 1.000 0 2 2008 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.200 None 1.000 0 5 2002 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.180 None 1.000 0 19 2006 2019
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.160 None 1.000 0 1 2015 2020
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: 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: 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: 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: 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: 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