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: C1334680
Disease: Mediastinal seminoma
Mediastinal seminoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2008 2008
CUI: C0334518
Disease: Polyembryoma
Polyembryoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2010 2010
CUI: C1514225
Disease: Poorly Differentiated Neuroblastoma
Poorly Differentiated Neuroblastoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 7 157 0.010 None 1.000 1 2013 2013
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 7 9 0.010 None 1.000 1 2018 2018
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 15 0.010 None 1.000 1 2016 2016
CUI: C0266360
Disease: Streak gonad
Streak gonad 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 0.010 None 1.000 1 2019 2019
CUI: C1335903
Disease: Mucoepidermoid carcinoma of salivary gland
Mucoepidermoid carcinoma of salivary gland 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 10 0.010 None 1.000 1 2017 2017
CUI: C0001614
Disease: Adrenal Cortex Diseases
Adrenal Cortex Diseases 		group Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0276926
Disease: Schistosoma hematobium infection
Schistosoma hematobium infection 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 13 3 0.010 None 1.000 1 2011 2011
CUI: C0595905
Disease: cortex bone disorders
cortex bone disorders 		disease Musculoskeletal Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C4331229
Disease: Recurrent Glioma
Recurrent Glioma 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2016 2016
CUI: C1266157
Disease: Intratubular malignant germ cells
Intratubular malignant germ cells 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2017 2017
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 2016 2016
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		disease Disease or Syndrome 19 0.010 None 1.000 1 2004 2004
CUI: C0348374
Disease: Malignant Central Nervous System Neoplasm
Malignant Central Nervous System Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 21 0.010 None 1.000 1 2015 2015
CUI: C1704274
Disease: Intrauterine adhesions
Intrauterine adhesions 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 24 0.020 None 1.000 2 2017 2018
CUI: C0022118
Disease: Transient ischemia
Transient ischemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 0.010 None 1.000 1 2010 2010
CUI: C2987516
Disease: Cervix Intraepithelial Neoplasia Grade 3 AJCC v7
Cervix Intraepithelial Neoplasia Grade 3 AJCC v7 		disease Neoplasms Neoplastic Process 25 0.010 None 1.000 1 2013 2013
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 26 129 0.010 None 1.000 1 2016 2016
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 34 2 0.040 None 1.000 4 2004 2019
CUI: C0027658
Disease: Neoplasms, Germ Cell and Embryonal
Neoplasms, Germ Cell and Embryonal 		group Neoplasms Neoplastic Process 34 0.010 None 1.000 1 2006 2006
CUI: C1332221
Disease: Adult Yolk Sac Tumor
Adult Yolk Sac Tumor 		disease Neoplasms Neoplastic Process 35 2 0.030 None 1.000 3 2009 2013
CUI: C0206660
Disease: Germinoma
Germinoma 		disease Neoplasms Neoplastic Process 38 2 0.010 None 1.000 1 2016 2016
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2017 2017