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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.590 None 1.000 11 1 2003 2015
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.500 strong 1.000 4 2003 2016
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
disease Disease or Syndrome 2 2 0.400 strong 0 2
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.390 None 1.000 9 2006 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.310 None 1.000 2 2003 2004
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.310 None 1.000 2 2008 2016
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.310 None 1.000 2 2008 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.310 limited 1.000 2 2015 2016
Necrotizing encephalopathy, infantile subacute, of Leigh
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 limited 1.000 2 2015 2016
Leigh Syndrome due to Mitochondrial Complex V Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 limited 1.000 2 2015 2016
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 37 12 0.300 limited 1.000 2 2015 2016
Leigh Syndrome due to Mitochondrial Complex III Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 1 0.300 limited 1.000 2 2015 2016
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 limited 1.000 2 2015 2016
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 8 0.300 limited 1.000 2 2015 2016
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
group Cardiovascular Diseases Disease or Syndrome 101 0.300 None 1.000 1 2004 2004
CUI: C0024713
Disease: Manic Disorder
Manic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 76 0.300 None 1.000 1 2009 2009
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
group Cardiovascular Diseases Disease or Syndrome 108 1 0.300 None 1.000 1 2004 2004
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar
disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.300 None 1.000 1 2009 2009
CUI: C0338831
Disease: Manic
Manic
disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.300 None 1.000 1 2009 2009
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 53 11 0.300 None 1.000 1 2004 2004
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.120 None 0.500 2 2003 2011
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.120 None 0.500 2 2003 2011
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.100 None 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype Mental Disorders Finding 73 6 0.100 None 0