BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1882081
Disease: Nevoid Melanoma
Nevoid Melanoma
0.020 GeneticVariation disease BEFREE These tumors have been described with a myriad of terms including: Wiesner nevus, nevoid melanoma-like melanocytic proliferation (NEMMP), BAP1 mutant Spitz nevus, BAP1 mutant nevoid melanoma, cutaneous BAPoma, and most recently cutaneous BIMT. 31233225 2019
CUI: C1882081
Disease: Nevoid Melanoma
Nevoid Melanoma
0.020 Biomarker disease BEFREE Eleven archival melanocytic lesions, including three benign nevi, four melanomas, three BAP1-deficient Spitzoid nevi and one nevoid melanoma were selected for validation. 29169801 2017