Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.690 GeneticVariation disease BEFREE The association of epidermal nevi and transitional cell bladder carcinoma may be linked to a mutation in the fibroblast growth factor receptor 3 gene, FGFR<sub>3</sub>, but a clear link has yet to be substantiated and additional molecular studies are needed. 28207006 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.690 GeneticVariation disease BEFREE Our results show that activating FGFR3 mutations can also affect the oral mucosa and that extracutaneous manifestations of EN syndrome can be subtle. 21639936 2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.690 GeneticVariation disease BEFREE Somatic oncogenic activating mutations in FGFR3 and/or PIK3CA have recently been described in benign epithelial cutaneous lesions that never progress to malignancy (seborrheic keratoses and epidermal nevi). 18728396 2008
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: 2261
Gene Symbol: FGFR3
FGFR3
0.690 GeneticVariation disease BEFREE Therefore, we examined exons 9 and 20 of PIK3CA and FGFR3 hotspot mutations in EN (n = 33) and SK (n = 62), two proliferative skin lesions lacking malignant potential. 17673550 2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.690 GeneticVariation disease BEFREE Our findings indicate that: (1) FGFR3 mutations occur in mosaicism and can cause EN and (2) other genes are involved in EN. 17255960 2007
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: 2261
Gene Symbol: FGFR3
FGFR3
0.690 GeneticVariation disease BEFREE The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. 16841094 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.690 GeneticVariation disease BEFREE Recently, the same FGFR3 mutations known from skeletal dysplasia syndromes and urothelial carcinoma have been shown to cause benign human skin tumors such as seborrheic keratoses and epidermal nevi. 17172848 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.690 GeneticVariation disease UNIPROT The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. 16841094 2006
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 GeneticVariation disease UNIPROT Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 22499344 2012
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 GeneticVariation disease BEFREE Molecular analysis of a biopsy containing both basal cell carcinoma and epidermal nevus revealed a PIK3CA mutation. 19122450 2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.430 Biomarker disease BEFREE Somatic oncogenic activating mutations in FGFR3 and/or PIK3CA have recently been described in benign epithelial cutaneous lesions that never progress to malignancy (seborrheic keratoses and epidermal nevi). 18728396 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
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 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: 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 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 GeneticVariation disease BEFREE This report shows for the first time that a KRAS mutation in epiderma causes EN. 20805368 2010