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 Additional research is needed to further establish possible etiological risk factors and to clarify the involvement of PIK3CA and FGFR3 genes in the pathogenesis of seborrheic keratosis of the outer ear canal. 29485181 2018
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE We reviewed the literature concerning genetic FGFR3 alterations in seborrhoeic keratosis. 28627087 2017
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 2014
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 2009
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 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 LHGDN One SK with a FGFR3 mutation additionally showed a hotspot PIK3CA mutation. 18503601 2008
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease BEFREE One SK with a FGFR3 mutation additionally showed a hotspot PIK3CA mutation. 18503601 2008
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 AlteredExpression disease BEFREE Ki-67 expression was significantly higher in seborrheic keratoses than in normal epidermis independent of the FGFR3 status (P<0.001). 17585316 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 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 FGFR3 mutations appear to be common genetic alterations in multiple SK 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 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 LHGDN Ki-67 expression was significantly higher in seborrheic keratoses than in normal epidermis independent of the FGFR3 status (P<0.001). 17585316 2007
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease LHGDN FGFR3 mutations appear to be common genetic alterations in multiple SK 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 Adenoid SKs seem to be characterized by a higher frequency of FGFR3 mutations than hyperkeratotic and acanthotic SKs. 16778799 2006
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.500 GeneticVariation disease LHGDN Adenoid SKs seem to be characterized by a higher frequency of FGFR3 mutations than hyperkeratotic and acanthotic SKs. 16778799 2006
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 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