Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222

2012

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 22729223

2012

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 GeneticVariation BEFREE FGFR3, PIK3CA and RAS mutations have been shown to be involved in the pathogenesis of seborrhoeic keratosis and solar lentigo. 22188534

2012

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544

2012

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 Biomarker BEFREE We performed a comprehensive mutational screen of genes in the FGFR3-RAS-MAPK and phosphoinositide 3-kinase (PI3K)-AKT pathways from 175 SK, including multiple lesions from each patient. 21078999

2011

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 GeneticVariation 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

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 GeneticVariation 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

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 GeneticVariation 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

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 Biomarker 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: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550

2007

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 GeneticVariation UNIPROT Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550

2007

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 GeneticVariation UNIPROT By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R. 17673550

2007

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 GeneticVariation UNIPROT 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: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR 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: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R. 17673550

2007

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 GeneticVariation BEFREE Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550

2007

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168

2004

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963

2004

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.660 Biomarker CTD_human