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: C4280760
Disease: Abnormal visual accommodation
Abnormal visual accommodation
phenotype Pathologic Function 5 0.100 None 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 219 7 0.300 None 0
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
disease Neoplasms Neoplastic Process 517 25 0.100 None 0 1
CUI: C0042909
Disease: Vitreous Hemorrhage
Vitreous Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 12 0.100 None 0
CUI: C0016689
Disease: Freckles
Freckles
phenotype Skin and Connective Tissue Diseases Finding 45 10 0.100 None 0
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
group Neoplasms Neoplastic Process 699 32 0.010 None < 0.001 1 2018 2018
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell
disease Neoplasms Neoplastic Process 218 5 0.010 None < 0.001 1 2016 2016
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: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 853 42 0.010 None < 0.001 1 2018 2018
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None < 0.001 1 2016 2016
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
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.040 None 0.750 4 2013 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.040 None 0.750 4 2015 2018
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.350 None 0.800 5 2015 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.560 None 0.857 7 2013 2019
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.690 strong 0.900 10 2011 2019
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: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.100 None 0.917 12 2012 2020
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.700 strong 0.950 40 1 2010 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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.800 strong 0.955 22 2012 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.964 167 1 1998 2020
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.500 None 0.967 30 2 2011 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.800 strong 0.973 73 3 2010 2020
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 420 12 0.500 None 0.980 50 1 2011 2020