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: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 0 1 2014 2017
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: 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: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2017 2017
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 3 1 2006 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 1 1 2005 2017
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: 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: 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: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 1 2009 2009
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
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: 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: 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: 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: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 2 1 2007 2011
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: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 3 2018 2018
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 1 1 2012 2012
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 0 1 2016 2018
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1