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: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 2 2016 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: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 3 2016 2016
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 2 2016 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 1 9 2016 2019
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
solute carrier family 19 member 3 0.610 0.692 0.10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 2 2016 2019
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.565 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 5 2016 2016
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.565 0.731 5.1E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 1 2016 2016
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 1 2016 2017
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 0 3 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: 27315
Gene Symbol: PGAP2
PGAP2
post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2016 2016
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: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 0 1 2016 2016
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: 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: 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: 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: 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: 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 1 1 2015 2019