TPSD1, tryptase delta 1, 23430

N. diseases: 27; N. variants: 1
Disease: Mastocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		0.020 GeneticVariation disease BEFREE Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). 25912132 2015
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		0.020 Biomarker disease BEFREE Serum mast cell tryptase levels are used as a diagnostic criterion and surrogate marker of disease severity in mastocytosis. 17449330 2007