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: 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: 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
Entrez Id: 196528
Gene Symbol: ARID2
ARID2
AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.722 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 2 2017 2017
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3 0.682 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 strong 1.000 0 1 2017 2017
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
cytoplasmic linker associated protein 1 0.751 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 2
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 2
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2013 2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 2 2014 2014
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: 3832
Gene Symbol: KIF11
KIF11
kinesin family member 11 0.560 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2014 2014
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 0 3 2015 2019
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1