BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Malignant melanoma of iris ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 Biomarker disease BEFREE While the excised iris melanoma showed loss of BAP1 nuclear staining by immunohistochemical staining, the BCCs of our patient (and in the control group, n = 13) were BAP1 positive. 30578689 2019
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 GermlineCausalMutation disease ORPHANET Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. 21941004 2011
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 SomaticCausalMutation disease ORPHANET Frequent mutation of BAP1 in metastasizing uveal melanomas. 21051595 2010
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 Biomarker disease HPO