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: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
disease Disease or Syndrome 16 62 0.790 definitive 1.000 23 56 2008 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2014 2020
CUI: C1302746
Disease: Melanocytic neoplasm
Melanocytic neoplasm
disease Neoplastic Process 4 0.030 None 1.000 3 2011 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.030 None 1.000 3 2015 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2013 2017
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.020 None 1.000 2 2018 2019
CUI: C1511789
Disease: Desmoplastic
Desmoplastic
disease Disease or Syndrome 117 4 0.020 None 1.000 2 2016 2018
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2020 2020
CUI: C0742960
Disease: cyst benign
cyst benign
disease Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
CUI: C1334464
Disease: Lymphohistiocytoid Mesothelioma
Lymphohistiocytoid Mesothelioma
disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C2242635
Disease: Tumour thrombosis
Tumour thrombosis
disease Neoplastic Process 19 0.010 None 1.000 1 2018 2018
CUI: C2242657
Disease: Metastatic ocular melanoma
Metastatic ocular melanoma
disease Neoplastic Process 2 0.010 None 1.000 1 2012 2012
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2018 2018
CUI: C2945759
Disease: aggressive cancer
aggressive cancer
phenotype Neoplastic Process 83 5 0.010 None 1.000 1 2019 2019
CUI: C3831087
Disease: Class 2 Uveal Melanoma
Class 2 Uveal Melanoma
disease Neoplastic Process 1 0.010 None 1.000 1 2019 2019
Nonnuclear polymorphic congenital cataract
disease Congenital Abnormality 71 0.010 None 1.000 1 2016 2016
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma
disease Neoplastic Process 24 1 0.010 None 1.000 1 2017 2017
CUI: C4522245
Disease: Atypical Spitz Nevus
Atypical Spitz Nevus
disease Neoplastic Process 9 0.010 None 1.000 1 2015 2015
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018
CUI: C4725092
Disease: Advanced Uveal Melanoma
Advanced Uveal Melanoma
disease Neoplastic Process 13 0.010 None 1.000 1 2011 2011
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.100 None 0