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: C0266305
Disease: Fused Kidney
Fused Kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 1 0.050 None 1.000 5 2006 2019
CUI: C3839062
Disease: Perivascular epithelioid tumor, malignant
Perivascular epithelioid tumor, malignant 		disease Neoplasms Neoplastic Process 1 0.020 None 1.000 2 2016 2018
CUI: C1368821
Disease: Ovarian Sclerosing Stromal Tumor
Ovarian Sclerosing Stromal Tumor 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C2064402
Disease: Liver Epithelioid Hemangioendothelioma
Liver Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C0559460
Disease: Adrenal neuroblastoma
Adrenal neuroblastoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2009 2009
CUI: C1333065
Disease: Lung Clear Cell Tumor
Lung Clear Cell Tumor 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C4518375
Disease: Mucinous tubular and spindle cell carcinoma
Mucinous tubular and spindle cell carcinoma 		disease Neoplastic Process 5 0.010 None 1.000 1 2014 2014
CUI: C0334331
Disease: Juxtaglomerular tumor
Juxtaglomerular tumor 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 6 0.010 None < 0.001 1 2017 2017
CUI: C1337036
Disease: Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 		disease Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C0598790
Disease: lung sarcoma
lung sarcoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.010 None 1.000 1 2015 2015
CUI: C0546483
Disease: Lung cyst
Lung cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0282607
Disease: Vascular Neoplasms
Vascular Neoplasms 		group Neoplasms; Cardiovascular Diseases Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C1266128
Disease: Ossifying fibromyxoid tumor
Ossifying fibromyxoid tumor 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2019 2019
CUI: C0206628
Disease: Mesoblastic Nephroma
Mesoblastic Nephroma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 17 0.010 None 1.000 1 2006 2006
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2019 2019
CUI: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma 		disease Neoplasms Neoplastic Process 17 3 0.010 None 1.000 1 2012 2012
CUI: C1402291
Disease: Pigmented lesions
Pigmented lesions 		disease Disease or Syndrome 18 3 0.010 None 1.000 1 2017 2017
CUI: C0085167
Disease: Granular cell tumor
Granular cell tumor 		disease Neoplasms Neoplastic Process 19 0.020 None 1.000 2 2012 2019
CUI: C0334607
Disease: Psammomatous Meningioma
Psammomatous Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 22 0.010 None 1.000 1 2010 2010
CUI: C0878681
Disease: Dent's disease
Dent's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.010 None 1.000 1 1993 1993
CUI: C3899665
Disease: Childhood Epithelioid Hemangioendothelioma
Childhood Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.060 None 0.833 6 2013 2020
CUI: C3900104
Disease: Adult Epithelioid Hemangioendothelioma
Adult Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.060 None 0.833 6 2013 2020
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 2017 2017
CUI: C1266127
Disease: Histiocytoma, Angiomatoid Fibrous
Histiocytoma, Angiomatoid Fibrous 		disease Neoplasms Neoplastic Process 28 0.010 None 1.000 1 2007 2007
CUI: C0334538
Disease: Epithelioid hemangioendothelioma, malignant
Epithelioid hemangioendothelioma, malignant 		disease Neoplasms Neoplastic Process 29 0.080 None 0.875 8 2013 2020