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: 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: 10771
Gene Symbol: ZMYND11
ZMYND11
zinc finger MYND-type containing 11 0.647 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 1 2014 2014
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: 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: 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: 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: 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: 7343
Gene Symbol: UBTF
UBTF
upstream binding transcription factor 0.705 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 limited 1.000 1 1 2017 2018
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 2
Entrez Id: 10274
Gene Symbol: STAG1
STAG1
stromal antigen 1 0.656 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
stromal antigen 2 0.568 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 0 0 2015 2019
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.545 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 11011
Gene Symbol: TLK2
TLK2
tousled like kinase 2 0.631 0.538 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 1105
Gene Symbol: CHD1
CHD1
chromodomain helicase DNA binding protein 1 0.628 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
chromodomain helicase DNA binding protein 3 0.670 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
clathrin heavy chain 0.558 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 0 0 2007 2017
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 2
Entrez Id: 1523
Gene Symbol: CUX1
CUX1
cut like homeobox 1 0.465 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2018 2018
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 0 0 1992 2018
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: 1795
Gene Symbol: DOCK3
DOCK3
dedicator of cytokinesis 3 0.619 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 0 2 2018 2019