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: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		disease Neoplasms Neoplastic Process 179 34 0.010 None 1.000 1 1 2017 2017
CUI: C0153453
Disease: Malignant tumor of extrahepatic bile duct
Malignant tumor of extrahepatic bile duct 		disease Digestive System Diseases; Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2014 2014
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 83 15 0.010 None 1.000 1 2014 2014
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184 0.010 None 1.000 1 2017 2017
CUI: C0151546
Disease: Oral Cavity Carcinoma
Oral Cavity Carcinoma 		disease Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 167 16 0.010 None 1.000 1 2017 2017
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.010 None 1.000 1 2013 2013
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 2013 2013
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 180 72 0.010 None 1.000 1 1 2017 2017
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None 1.000 1 2011 2011
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None 1.000 1 2012 2012
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.010 None < 0.001 1 1 2015 2015
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 188 19 0.010 None 1.000 1 2012 2012
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 82 8 0.010 None 1.000 1 2017 2017
CUI: C0278689
Disease: Recurrent ovarian cancer
Recurrent ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 71 1 0.010 None 1.000 1 2015 2015
CUI: C0278584
Disease: Metastatic Carcinoma to the Uterine Cervix
Metastatic Carcinoma to the Uterine Cervix 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 15 0.010 None 1.000 1 2017 2017
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I 		disease Neoplastic Process 115 1 0.010 None 1.000 1 2012 2012
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 56 0.010 None 1.000 1 2012 2012
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 77 75 0.010 None 1.000 1 2008 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		disease Digestive System Diseases Disease or Syndrome 158 108 0.010 None 1.000 1 2013 2013
CUI: C0238019
Disease: Carcinoma of extrahepatic bile duct
Carcinoma of extrahepatic bile duct 		disease Digestive System Diseases; Neoplasms Neoplastic Process 35 0.010 None 1.000 1 2014 2014
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process 392 28 0.010 None 1.000 1 2018 2018
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2013 2013
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		disease Neoplasms Neoplastic Process 293 28 0.010 None 1.000 1 2011 2011
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.010 None < 0.001 1 2008 2008
CUI: C0677984
Disease: Locally Advanced Malignant Neoplasm
Locally Advanced Malignant Neoplasm 		disease Neoplastic Process 11 0.010 None 1.000 1 2008 2008