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: C1563715
Disease: Andersen Syndrome
Andersen Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 23 38 0.800 None 0.987 76 27 2001 2019
CUI: C1844509
Disease: Antegonial notching of mandible
Antegonial notching of mandible
phenotype Finding 3 1 0.100 None 0
CUI: C0751851
Disease: Arsenic Encephalopathy
Arsenic Encephalopathy
disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 62 0.300 None 1.000 1 2006 2006
CUI: C0751852
Disease: Arsenic Induced Polyneuropathy
Arsenic Induced Polyneuropathy
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C0311375
Disease: Arsenic Poisoning
Arsenic Poisoning
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 64 0.300 None 1.000 1 2006 2006
CUI: C0274861
Disease: Arsenic Poisoning, Inorganic
Arsenic Poisoning, Inorganic
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.470 strong 1.000 8 2 2005 2019
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 22 1 0.300 None 1.000 1 2005 2005
CUI: C3151431
Disease: ATRIAL FIBRILLATION, FAMILIAL, 9
ATRIAL FIBRILLATION, FAMILIAL, 9
disease Disease or Syndrome 1 2 0.700 strong 1.000 4 2 2002 2016
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 63 17 0.100 None 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2018 2018
CUI: C2930902
Disease: Bidirectional tachycardia
Bidirectional tachycardia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2007 2007
CUI: C1969410
Disease: Bidirectional ventricular ectopy
Bidirectional ventricular ectopy
phenotype Finding 1 0.100 None 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0428977
Disease: Bradycardia
Bradycardia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 63 2 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.020 None 1.000 2 2004 2015
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.370 None 1.000 9 3 2004 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2015 2015
CUI: C0406810
Disease: Carney Complex
Carney Complex
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 0.010 None 1.000 1 2012 2012
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 1998 1999
CUI: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2013 2013