Source: CURATED ×
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: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 0.300 None 1.000 1 2004 2004
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 1 5 1.000 strong 0.969 8 5 2004 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 24 118 0.570 disputed 1.000 7 1993 2019
CUI: C2678478
Disease: Brugada Syndrome 3
Brugada Syndrome 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 2 0.700 None 1.000 5 2 2007 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 75 0.300 strong 1.000 1 2018 2018
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
disease Immune System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2004 2004
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 24 0.380 None 1.000 1 2004 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 57 470 0.330 strong 1.000 1 2014 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 190 233 0.330 None 1.000 1 2006 2016
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 11 15 0.300 None 1.000 1 2004 2004
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 23 7 0.300 None 1.000 1 2004 2004
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 10 0.300 None 1.000 1 2004 2004
CUI: C0271710
Disease: Reactive hypoglycemia
Reactive hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.300 None 1.000 1 2004 2004
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 119 0.300 strong 1.000 1 2018 2018
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 11 0.400 strong 1.000 1 2018 2018
CUI: C3887612
Disease: Psychomotor Agitation
Psychomotor Agitation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 4 0.300 None 1.000 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 477 552 0.700 None 0.800 9 6 2008 2020
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 243 1103 0.700 None 1.000 6 19 2010 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 254 0.370 None 0.800 5 2010 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 289 7 0.380 None 0.800 5 2010 2019
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 259 88 0.400 None 1.000 5 2010 2019
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 168 218 0.390 None 1.000 5 2010 2019
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar
disease Mental Disorders Mental or Behavioral Dysfunction 79 0.310 None 1.000 4 2008 2019
CUI: C0024713
Disease: Manic Disorder
Manic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 71 0.300 None 1.000 4 2008 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.500 None 1.000 4 10 2009 2019