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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
disease Disease or Syndrome 2 9 0.700 2 9 2015 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 1 2015 2015
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 strong 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0855329
Disease: Electrocardiographic changes
Electrocardiographic changes
phenotype Finding 103 5 0.100 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 479 108 0.100 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 277 6 0.100 0
CUI: C1744601
Disease: Abnormal heart beat
Abnormal heart beat
phenotype Sign or Symptom 99 0.100 0
CUI: C1832603
Disease: ECG abnormality
ECG abnormality
phenotype Finding 99 0.100 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Finding 118 0.100 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype Finding 101 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 182 4 0.100 0
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal
phenotype Finding 102 0.100 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 131 29 0.100 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms Pathologic Function 303 0.100 0
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 814 91 0.100 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 883 65 0.100 0
CUI: C0021296
Disease: Infant, Small for Gestational Age
Infant, Small for Gestational Age
phenotype Disease or Syndrome 274 0.100 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 238 16 0.100 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia
phenotype Pathologic Function 147 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 98 86 0.010 1.000 1 2015 2015