Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.690 Biomarker disease CTD_human
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.690 CausalMutation disease CLINVAR
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.600 Biomarker disease CTD_human
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.600 CausalMutation disease CLINVAR
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.430 Biomarker disease CTD_human
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.430 CausalMutation disease CLINVAR
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.420 Biomarker disease CTD_human
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.420 CausalMutation disease CLINVAR
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.410 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.410 CausalMutation disease CLINVAR
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.410 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.120 Biomarker disease HPO
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.120 GeneticVariation disease BEFREE Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. 16704655 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.690 GeneticVariation disease BEFREE FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin. 17568799 2007
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		0.010 GeneticVariation disease BEFREE A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi. 31571289 2019
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		0.010 GeneticVariation disease BEFREE A non-epidermolytic keratinocytic epidermal naevus associated with a post-zygotic mutation in the gene encoding the epidermal growth factor receptor. 31745974 2019
Entrez Id: 8074
Gene Symbol: FGF23
FGF23 		0.010 AlteredExpression disease BEFREE An identical postzygotic HRAS mutation was shown to be present in both keratinocytic epidermal nevus and thymoma and to be associated with bone lesions and hypophosphatemia due to elevated FGF23 levels. 24243633 2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.420 GeneticVariation disease BEFREE Genetic evaluation revealed a heterozygote mutation in the HRAS gene in both the keratinocytic epidermal nevus and thymoma but not in DNA extracted from blood lymphocytes, thus establishing the mutation as postzygotic. 24243633 2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.420 GeneticVariation disease BEFREE Here, we report a case of woolly hair nevus, linear pigmentation, and multiple epidermal nevi with a somatic HRAS c.34G>A(p.G12S) mutation. 30864170 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.600 GeneticVariation disease UNIPROT Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 22499344 2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.430 GeneticVariation disease BEFREE Molecular analysis of a biopsy containing both basal cell carcinoma and epidermal nevus revealed a PIK3CA mutation. 19122450 2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.690 GeneticVariation disease BEFREE Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. 18642369 2008
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.430 GeneticVariation disease BEFREE Nine of 33 (27%) EN harbored PIK3CA mutations; all cases showed the E545G substitution, which is uncommon in cancers. 17673550 2007