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: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2016 2016
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
group Neoplasms; Musculoskeletal Diseases Neoplastic Process 151 4 0.300 None 1.000 1 2015 2015
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms
group Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 124 31 0.300 None 1.000 1 2015 2015
CUI: C1384406
Disease: Secretory meningioma
Secretory meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 16 0.300 None 1.000 1 2015 2015
CUI: C1527197
Disease: Angioblastic Meningioma
Angioblastic Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2015 2015
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 219 7 0.300 None 0
Renal cell carcinoma, usually clear cell type
phenotype Neoplasms Finding 1 0.300 strong 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.300 None 0
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.200 None 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.180 None 1.000 19 23 2011 2019
CUI: C0027960
Disease: Nevus
Nevus
disease Neoplasms Neoplastic Process 125 43 0.150 None 1.000 5 2013 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.964 167 1 1998 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.986 72 1 2011 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 0.950 40 2010 2019
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 421 15 0.100 None 1.000 34 2011 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 21 1999 2019
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.100 None 0.917 12 2012 2020
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.909 11 2014 2019
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
Malignant Mesothelioma of Peritoneum
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 65 2 0.100 None 1.000 10 2015 2020
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye
disease Disease or Syndrome 88 1 0.100 None 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system
disease Anatomical Abnormality 16 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
disease Anatomical Abnormality 28 31 0.100 None 0
CUI: C4280760
Disease: Abnormal visual accommodation
Abnormal visual accommodation
phenotype Pathologic Function 5 0.100 None 0