Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease BEFREE Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation. 21639936 2011
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. 21324899 2011
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR Physical basis behind achondroplasia, the most common form of human dwarfism. 20624921 2010
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 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
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR 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
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 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
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. 18266238 2008
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease BEFREE Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. 17255960 2007
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease BEFREE FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin. 17568799 2007
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 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
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 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 2007
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. 16766665 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease UNIPROT We identified activating FGFR3 mutations, almost exclusively at codon 248 (R248C), in 11 of 33 (33%) patients with nonorganoid, nonepidermolytic epidermal nevi. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR We used a SNaPshot multiplex assay to screen 39 epidermal nevi of this type of 33 patients for 11 activating FGFR3 point mutations. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease UNIPROT The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease UNIPROT We used a SNaPshot multiplex assay to screen 39 epidermal nevi of this type of 33 patients for 11 activating FGFR3 point mutations. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease UNIPROT Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR Our results suggest that a large proportion of epidermal nevi are caused by a mosaicism of activating FGFR3 mutations in the human epidermis, secondary to a postzygotic mutation in early embryonic development. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease UNIPROT Our results suggest that a large proportion of epidermal nevi are caused by a mosaicism of activating FGFR3 mutations in the human epidermis, secondary to a postzygotic mutation in early embryonic development. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 GeneticVariation disease BEFREE Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR We identified activating FGFR3 mutations, almost exclusively at codon 248 (R248C), in 11 of 33 (33%) patients with nonorganoid, nonepidermolytic epidermal nevi. 16841094 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 15772091 2005
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.680 CausalMutation disease CLINVAR Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. 12833394 2004