BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Melanocytic neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1302746
Disease: Melanocytic neoplasm
Melanocytic neoplasm 		0.030 Biomarker disease BEFREE Histopathology was characteristic of a BAP1-deficient melanocytic neoplasm, with a biphasic population of cytologically bland conventional nevomelanocytes and a proliferation of large epithelioid melanocytes with abundant eosinophilic cytoplasm. 31058349 2019
CUI: C1302746
Disease: Melanocytic neoplasm
Melanocytic neoplasm 		0.030 GeneticVariation disease BEFREE Atypical Spitz tumor with loss of BAP1 or Wiesner nevus is a peculiar variant of intradermal spitzoid melanocytic neoplasm composed of epithelioid melanocytes with a sheet-like growth pattern, abundant infiltrating lymphocytes and rare or absent mitotic activity. 25953246 2015
CUI: C1302746
Disease: Melanocytic neoplasm
Melanocytic neoplasm 		0.030 Biomarker disease BEFREE These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm. 21874003 2011