BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
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: C4707290
Disease: BAP1 tumor predisposition syndrome
BAP1 tumor predisposition syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 1 0.100 None 1.000 11 2015 2019
CUI: C3831087
Disease: Class 2 Uveal Melanoma
Class 2 Uveal Melanoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C3808492
Disease: Renal cell carcinoma, usually clear cell type
Renal cell carcinoma, usually clear cell type 		phenotype Neoplasms Finding 1 0.300 strong 0
CUI: C1882081
Disease: Nevoid Melanoma
Nevoid Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 0.020 None 1.000 2 2017 2019
CUI: C0025210
Disease: Ocular melanosis
Ocular melanosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 1 0.010 None 1.000 1 2019 2019
CUI: C2242657
Disease: Metastatic ocular melanoma
Metastatic ocular melanoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2012 2012
CUI: C0027961
Disease: Nevus of Ota
Nevus of Ota 		disease Neoplasms Neoplastic Process 3 1 0.010 None 1.000 1 2016 2016
CUI: C1334464
Disease: Lymphohistiocytoid Mesothelioma
Lymphohistiocytoid Mesothelioma 		disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C1302746
Disease: Melanocytic neoplasm
Melanocytic neoplasm 		disease Neoplastic Process 4 0.030 None 1.000 3 2011 2019
CUI: C0751620
Disease: Central Nervous System Neoplasms, Primary
Central Nervous System Neoplasms, Primary 		disease Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 None 1.000 1 2015 2015
CUI: C2036842
Disease: Inferior lens subluxation
Inferior lens subluxation 		disease Eye Diseases Disease or Syndrome 5 0.100 None 0
CUI: C4280760
Disease: Abnormal visual accommodation
Abnormal visual accommodation 		phenotype Pathologic Function 5 0.100 None 0
CUI: C0334515
Disease: Mesothelioma, biphasic, malignant
Mesothelioma, biphasic, malignant 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 6 0.020 None 1.000 2 2017 2018
CUI: C1720811
Disease: Tumor of Rete Testis
Tumor of Rete Testis 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 6 0.300 None 1.000 1 2015 2015
CUI: C0346379
Disease: Malignant melanoma of ciliary body
Malignant melanoma of ciliary body 		disease Neoplasms; Eye Diseases Neoplastic Process 6 0.100 None 0
CUI: C1705500
Disease: Flasher - visual manifestation
Flasher - visual manifestation 		phenotype Sign or Symptom 6 0.100 None 0
CUI: C0334447
Disease: Malignant blue nevus of skin
Malignant blue nevus of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 1 0.030 None 1.000 3 2014 2017
CUI: C0392400
Disease: Diffuse malignant mesothelioma
Diffuse malignant mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C3714934
Disease: MYOPATHY, MYOFIBRILLAR, 3
MYOPATHY, MYOFIBRILLAR, 3 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2007 2007
CUI: C1337012
Disease: Well-differentiated papillary mesothelioma
Well-differentiated papillary mesothelioma 		disease Neoplasms Neoplastic Process 9 0.040 None 1.000 4 2013 2019
CUI: C0334448
Disease: Cellular Blue Nevus
Cellular Blue Nevus 		disease Neoplasms Neoplastic Process 9 0.020 None 1.000 2 2016 2016
CUI: C0742960
Disease: cyst benign
cyst benign 		disease Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
CUI: C2931352
Disease: Familial renal cell carcinoma
Familial renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 9 0.010 None 1.000 1 2015 2015
CUI: C4522245
Disease: Atypical Spitz Nevus
Atypical Spitz Nevus 		disease Neoplastic Process 9 0.010 None 1.000 1 2015 2015
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		disease Neoplasms; Eye Diseases Neoplastic Process 10 1 0.410 None 1.000 3 2010 2019