BAP1, BRCA1 associated protein 1, 8314

N. diseases: 9; N. variants: 72
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 4 6 0.800 strong 0.973 1 2 2010 2020
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		disease Disease or Syndrome 5 62 0.790 definitive 1.000 10 56 2008 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 25 129 0.700 strong 0.950 0 1 2010 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 6 6 0.620 None 1.000 0 1 2016 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 12 66 0.500 None 0.967 1 1 2011 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2 2 0.500 None 0.980 1 1 2011 2020
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 9 11 0.460 None 1.000 1 1 2015 2019
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 6385 0.180 None 1.000 11 23 2011 2019
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		disease Neoplasms Neoplastic Process 2 2 0.100 None 0 1