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: 3858
Gene Symbol: KRT10
KRT10 		0.020 Biomarker disease BEFREE We studied the K1 and K10 genes in blood and in the keratinocytes and fibroblasts of lesional and nonlesional skin from three patients with epidermal nevi and four of their offspring with epidermolytic hyperkeratosis. 7526210 1994
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: 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 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: 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: 5728
Gene Symbol: PTEN
PTEN 		0.120 AlteredExpression disease BEFREE Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703 2007
Entrez Id: 3858
Gene Symbol: KRT10
KRT10 		0.020 GeneticVariation disease BEFREE Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis (EH) caused by keratin 10 gene mutations have been reported, although no keratin 1 (K1) gene mutation has yet been reported. 17255957 2007