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: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.100 None 0.917 12 2012 2020
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.070 None 1.000 7 2012 2019
CUI: C0558356
Disease: Malignant melanoma of eye
Malignant melanoma of eye 		disease Neoplasms; Eye Diseases Neoplastic Process 38 0.060 None 1.000 6 2012 2019
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 0.050 None 1.000 5 2012 2020
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease Neoplasms Neoplastic Process 165 36 0.330 None 1.000 4 2012 2019
CUI: C0206739
Disease: Epithelioid and spindle cell nevus
Epithelioid and spindle cell nevus 		disease Neoplasms Neoplastic Process 21 0.320 None 1.000 3 2012 2019
CUI: C1377913
Disease: Pleural Mesothelioma
Pleural Mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 19 0.020 None 1.000 2 2012 2016
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 158 28 0.020 None 1.000 2 2012 2018
CUI: C2242657
Disease: Metastatic ocular melanoma
Metastatic ocular melanoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2012 2012
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.300 limited 1.000 1 2012 2012
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2012 2012
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.400 None 1.000 11 2013 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: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.350 None 1.000 7 2013 2019
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.060 None 1.000 6 2013 2018
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		disease Neoplasms Neoplastic Process 122 20 0.050 None 1.000 5 2013 2016
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.150 None 1.000 5 2013 2016
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: C0220668
Disease: Congenital contractural arachnodactyly
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2013 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.310 None 1.000 3 2013 2016
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 119 3 0.310 None 1.000 3 2013 2015
CUI: C1334978
Disease: Non-Hereditary Clear Cell Renal Cell Carcinoma
Non-Hereditary Clear Cell Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.020 None 1.000 2 2013 2014
CUI: C1333001
Disease: Childhood Renal Cell Carcinoma
Childhood Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 107 10 0.010 None 1.000 1 2013 2013
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.010 None 1.000 1 2013 2013