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: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 21 0 2005 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 12 6 2002 2017
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 12 2 2008 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.200 None 1.000 10 0 2010 2020
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 9 3 2005 2014
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 8 19 2006 2019
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 8 3 2000 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.170 None 1.000 7 7 2005 2016
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 7 1 1999 2012
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 6 2 2015 2020
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.160 None 1.000 6 0 2014 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 None 1.000 6 4 2010 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.060 None 1.000 6 0 2011 2019
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 5 3 2014 2017
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 None 1.000 5 0 2007 2014
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 5 10 2002 2016
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 5 1 2011 2018
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.460 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.050 None 1.000 5 0 2013 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 5 2 2015 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 5 9 2004 2018
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 5 0 2013 2019
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 0.530 0.692 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 None 1.000 5 0 2008 2013
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit 0.535 0.692 0.76
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 None 1.000 5 0 2015 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 0.750 4 0 1992 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 4 1 2005 2020