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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.200 1.000 0 0 2003 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.551 0.448 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.170 1.000 0 0 2008 2013
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
fragile X mental retardation 1 0.492 0.690 0.69
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.170 1.000 0 0 2010 2017
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium voltage-gated channel subfamily J member 11 0.542 0.552 9.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.160 1.000 0 0 2005 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 0.800 0 0 2006 2015
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 0.534 0.655 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 1.000 0 0 2009 2016
Entrez Id: 158
Gene Symbol: ADSL
ADSL
adenylosuccinate lyase 0.685 0.379 1.0E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 1.000 0 0 1998 2014
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.516 0.655 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 1.000 0 0 2009 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.494 0.655 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 1.000 0 0 2010 2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.441 0.690 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 1.000 0 0 2000 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.557 0.483 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 1.000 0 0 2008 2014
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.479 0.655 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 1.000 0 0 1998 2014
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
SH2B adaptor protein 1 0.627 0.586 0.95
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 0.667 0 0 2011 2017
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
tRNA nucleotidyl transferase 1 0.727 0.207 1.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 1.000 0 0 2015 2018
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.685 0.207 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 1.000 0 0 2015 2016
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.557 0.621 1.6E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 1.000 0 0 1998 1999
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.524 0.724 5.9E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2002 2006
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
spectrin beta, non-erythrocytic 2 0.648 0.483 3.0E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2014 2015
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.590 0.483 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2015 2016
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
N(alpha)-acetyltransferase 10, NatA catalytic subunit 0.577 0.586 0.77
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2016 2016
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
ubiquitin specific peptidase 9 X-linked 0.584 0.690 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2015 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2006 2009
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
solute carrier family 13 member 5 0.659 0.414 5.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2017 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2011 2013
Entrez Id: 54704
Gene Symbol: PDP1
PDP1
pyruvate dehyrogenase phosphatase catalytic subunit 1 0.713 0.379 0.49
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2003 2006