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: C1840311
Disease: Laryngeal cleft
Laryngeal cleft 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 72 4 0.010 None < 0.001 1 1 2012 2012
CUI: C0349459
Disease: Cervical intraepithelial neoplasia grade 2
Cervical intraepithelial neoplasia grade 2 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 77 3 0.010 None 1.000 1 1 2013 2013
CUI: C0013221
Disease: Drug toxicity
Drug toxicity 		group Chemically-Induced Disorders Injury or Poisoning 86 0.300 None 1.000 2 2005 2009
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug 		group Chemically-Induced Disorders Pathologic Function 87 0.300 None 1.000 2 2005 2009
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		disease Nervous System Diseases Disease or Syndrome 87 56 0.010 None 1.000 1 2013 2013
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 101 14 0.010 None 1.000 1 1997 1997
CUI: C0001883
Disease: Airway Obstruction
Airway Obstruction 		group Respiratory Tract Diseases Disease or Syndrome 110 5 0.010 None 1.000 1 2018 2018
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 112 10 0.100 None 0 1
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		disease Acquired Abnormality 115 15 0.010 None 1.000 1 1 2002 2002
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.020 None 1.000 2 2006 2007
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.010 None 1.000 1 2008 2008
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		group Neoplasms Neoplastic Process 124 11 0.010 None 1.000 1 2005 2005
CUI: C0001206
Disease: Acromegaly
Acromegaly 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.010 None 1.000 1 2015 2015
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases 		group Digestive System Diseases Disease or Syndrome 144 14 0.300 None 1.000 1 2009 2009
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 153 6 0.300 None 1.000 1 2006 2006
CUI: C0280803
Disease: Primary central nervous system lymphoma
Primary central nervous system lymphoma 		disease Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 156 4 0.010 None 1.000 1 1 2004 2004
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.010 None < 0.001 1 2 2015 2015
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 168 88 0.010 None 1.000 1 2015 2015
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 170 7 0.010 None 1.000 1 2017 2017
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		group Infections; Nervous System Diseases Disease or Syndrome 175 67 0.010 None 1.000 1 2013 2013
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.150 None 0.800 5 1997 2009
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		phenotype Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 186 43 0.010 None 1.000 1 2014 2014
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.010 None 1.000 1 1 2016 2016
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.300 None 1.000 1 2005 2005