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: 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: 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: C0038441
Disease: Stress Disorders, Traumatic
Stress Disorders, Traumatic 		group Mental Disorders Mental or Behavioral Dysfunction 1 0.300 None 1.000 1 2018 2018
CUI: C0039070
Disease: Syncope
Syncope 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 12 0.410 strong 1.000 1 2018 2019
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: C0392156
Disease: Akathisia
Akathisia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 4 0.300 None 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: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 8 40 0.410 strong 1.000 1 2007 2018
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 9 35 0.310 None 1.000 1 2018 2018
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 9 2 0.300 None 1.000 1 2018 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: 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: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 15 0.300 None 1.000 1 2004 2004
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: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 14 125 0.340 None 1.000 1 2014 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: 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: 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: 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: C0178417
Disease: Anhedonia
Anhedonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 24 0.320 None 1.000 2 2011 2014
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: C0011574
Disease: Involutional Depression
Involutional Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2018 2018
CUI: C1571983
Disease: Involutional paraphrenia
Involutional paraphrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2018 2018
CUI: C1571984
Disease: Psychosis, Involutional
Psychosis, Involutional 		disease Mental Disorders Mental or Behavioral Dysfunction 25 0.300 None 1.000 1 2018 2018