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: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.010 None 1.000 1 1997 1997
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2018 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 1 2008 2008
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 1 2015 2015
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 1 2014 2014
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 1 2008 2008
Transitional cell carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 333 158 0.010 None 1.000 1 2001 2001
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
disease Cardiovascular Diseases Disease or Syndrome 230 93 0.010 None 1.000 1 1 2008 2008
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 2007 2007
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.010 None < 0.001 1 2005 2005
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.010 None < 0.001 1 1 2005 2005
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None 1.000 1 1 2011 2011
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: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 1 2018 2018
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: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 504 46 0.010 None 1.000 1 2003 2003
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
Multiple Sulfatase Deficiency Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 26 0.010 None 1.000 1 2017 2017
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: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.010 None 1.000 1 2008 2008
CUI: C3714731
Disease: Early childhood caries
Early childhood caries
disease Stomatognathic Diseases Disease or Syndrome 30 8 0.010 None 1.000 1 1 2017 2017
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
Dementia due to Alzheimer's disease (disorder)
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 35 1 0.010 None 1.000 1 2004 2004
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 1 2008 2008
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 6 0.010 None 1.000 1 2003 2003