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