Disease: Syringocystadenoma Papilliferum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		0.330 GeneticVariation disease BEFREE Our study confirms the role of HRAS and BRAF V600 mutations in the pathogenesis of SCAP, including SCAP in the anogenital areas and buttock. 30398985 2019
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		0.330 GeneticVariation disease BEFREE Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities. 26360803 2016
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		0.330 GeneticVariation disease BEFREE Our results indicate that activation of the RAS-mitogen-activated protein kinase pathway by BRAF and RAS mutations contributes significantly to the tumorigenesis of sporadic SCAP and, less frequently, of sporadic TB. 25532942 2015
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		0.330 Biomarker disease GENOMICS_ENGLAND Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		0.330 Biomarker disease GENOMICS_ENGLAND