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: 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: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 11
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: 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: 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 4 9 2004 2018
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: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 8 2017 2017
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 8 2017 2017
Entrez Id: 25930
Gene Symbol: PTPN23
PTPN23
protein tyrosine phosphatase non-receptor type 23 0.743 0.308 3.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 7
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 4 6 2006 2009
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: 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: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 5
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: 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 1 4 2010 2019
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 4
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 4
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: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 4
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: 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: 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 3 3 2000 2019
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: 27245
Gene Symbol: AHDC1
AHDC1
AT-hook DNA binding motif containing 1 0.700 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 3 2014 2015
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
malate dehydrogenase 2 0.595 0.731 6.7E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 1 3 2017 2019