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: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease 0.750 strong 1.000 5 3 2012 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease 0.710 strong 1.000 3 5 2005 2014
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease 0.600 None 1.000 1 1 2015 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
disease 0.010 None 1.000 1 0 2012 2012