Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 Biomarker disease BEFREE However, mutational analysis from each tumor indicates that the overlapping SK and SCC evolved independently and supports our conclusion that FGFR3 activation is insufficient to drive SCC. 24626198 2016
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE FGFR3, PIK3CA and RAS mutations have been shown to be involved in the pathogenesis of seborrhoeic keratosis and solar lentigo. 22188534 2012
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE Because FGFR3 and PIK3CA mutations have been reported to be involved in the pathogenesis of seborrhoeic keratosis, we analysed whether these mutations are also present in STK and DPN. 19845664 2010
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 AlteredExpression disease BEFREE In contrast, the tyrosine kinase receptor FGF receptor-3 (FGFR3) and the transcription factor forkhead box N1 (FOXN1) were highly expressed in SKs, and close to undetectable in SCCs. 19729838 2010
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE We review the present literature, describing studies in which FGFR3 mutations have been investigated in skin lesions: primarily seborrheic keratoses and epidermal nevi, but also other benign skin tumors and a single case of a squamous cell carcinoma. 20453470 2010
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 AlteredExpression disease BEFREE The activation of FGFR3 might be a common feature in the tumorigenesis in seborrhoeic keratosis, although the activation does not induce a typical oncogenic signal in keratinocytes. 19298285 2009
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 CausalMutation disease CLINVAR An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. 18642369 2008
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease LHGDN FGFR3 and PIK3CA germline mutations can be excluded as an underlying genetic basis, therefore alternative mechanisms have to contribute to familial Seborrheic Keratoses. 18503601 2008
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE Because FGFR3 and PIK3CA germline mutations can be excluded as an underlying genetic basis, alternative mechanisms have to contribute to familial SK such as inherited susceptibility factors predisposing to the acquisition of somatic FGFR3 and PIK3CA mutations in skin, or increased exposure of the family members to yet unknown environmental risk factors causing these mutations. 18503601 2008
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 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: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE Based on the occurrence of fibroblast growth factor receptor 3 (FGFR3) mutations in seborrheic keratosis and urothelial carcinomas (UC), and the identification of two young patients with EN and UC, we hypothesized that mutations might occur in EN. 17255960 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE FGFR3 mutations in seborrheic keratoses are already present in flat lesions and associated with age and localization. 17585316 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses. 17392824 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease LHGDN Show preferential occurrence of FGFR3 mutations in seborrheic keratoses of the head and neck/age appears to be a risk factor for these mutations. 17585316 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin. 17568799 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 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: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease LHGDN Mutations were detected in 23 of 27 (85%) adenoid seborrheic keratoses/mutations were the most frequent mutation type. 16778799 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE High frequency of FGFR3 mutations in adenoid seborrheic keratoses. 16778799 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease LHGDN study showed that FGFR3 mutations appear to be common genetic alterations in multiple seborrheic keratoses with a varying interindividual mutation frequency but without specific intraindividual hot spots 17392824 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 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: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 CausalMutation disease CLINVAR Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 16841094 2006
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE We therefore screened a series of 62 cases of seborrheic keratosis for FGFR3 mutations. 15772091 2005
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease UNIPROT We therefore screened a series of 62 cases of seborrheic keratosis for FGFR3 mutations. 15772091 2005
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 CausalMutation disease CLINVAR We therefore screened a series of 62 cases of seborrheic keratosis for FGFR3 mutations. 15772091 2005
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 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