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: 283120
Gene Symbol: H19
H19 		H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.410 None 1.000 0 0 2005 2016
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.400 None 1.000 0 0 2005 2006
Entrez Id: 3481
Gene Symbol: IGF2
IGF2 		insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.400 None 1.000 0 0 2008 2008
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.100 None 0 0
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		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: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.100 None 0 0
Entrez Id: 208
Gene Symbol: AKT2
AKT2 		AKT serine/threonine kinase 2 0.474 0.769 0.64
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.100 None 0 0
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR 		H19/IGF2 imprinting control region 0.631 0.615
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.100 None 0 0
Entrez Id: 54941
Gene Symbol: RNF125
RNF125 		ring finger protein 125 0.647 0.654 4.6E-05
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		disease 0.100 None 0 0