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: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C4280760
Disease: Abnormal visual accommodation
Abnormal visual accommodation
phenotype Pathologic Function 5 0.100 None 0
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
disease Anatomical Abnormality 28 31 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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.030 None 1.000 3 2017 2019
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 2019 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.420 None 0.667 3 2015 2017
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
disease Neoplasms Neoplastic Process 117 6 0.010 None 1.000 1 2017 2017
CUI: C0206675
Disease: Adenomatoid Tumor
Adenomatoid Tumor
disease Neoplasms Neoplastic Process 14 0.020 None 1.000 2 2020 2020
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.040 None 1.000 4 2016 2019
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.300 None 1.000 1 2015 2015
Adult Malignant Peripheral Nerve Sheath Tumor
disease Neoplasms; Nervous System Diseases Neoplastic Process 62 2 0.010 None 1.000 1 2018 2018
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.040 None 1.000 4 2011 2019
CUI: C4725092
Disease: Advanced Uveal Melanoma
Advanced Uveal Melanoma
disease Neoplastic Process 13 0.010 None 1.000 1 2011 2011
CUI: C2945759
Disease: aggressive cancer
aggressive cancer
phenotype Neoplastic Process 83 5 0.010 None 1.000 1 2019 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2006 2006
CUI: C0002793
Disease: Anaplasia
Anaplasia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.010 None 1.000 1 2014 2014
CUI: C1527197
Disease: Angioblastic Meningioma
Angioblastic Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2015 2015
CUI: C0334608
Disease: Angiomatous Meningioma
Angiomatous Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 18 0.300 None 1.000 1 2015 2015
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None < 0.001 1 2014 2014
CUI: C4522245
Disease: Atypical Spitz Nevus
Atypical Spitz Nevus
disease Neoplastic Process 9 0.010 None 1.000 1 2015 2015
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: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 74 124 0.010 None 1.000 1 2015 2015
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
disease Neoplasms Neoplastic Process 122 20 0.050 None 1.000 5 2013 2016
CUI: C0281784
Disease: Benign Meningioma
Benign Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 35 0.300 None 1.000 1 2015 2015