Source: HPO

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: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 2017 2019
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 0 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 0 2006 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2017 2017
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 0 0 2006 2009
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 0 0 2006 2011
Entrez Id: 6774
Gene Symbol: STAT3
STAT3 		signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 2016 2017
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1950
Gene Symbol: EGF
EGF 		epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2 		nuclear factor, erythroid 2 like 2 0.357 0.885 3.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT 		telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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 0 0 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 0 0 2005 2014
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		endothelin 1 0.380 0.846 0.46
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 5111
Gene Symbol: PCNA
PCNA 		proliferating cell nuclear antigen 0.382 0.846 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0