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: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 0 2
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
disease Disease or Syndrome 1 10 0.710 strong 1.000 6 10 2012 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.140 None 1.000 4 2012 2018
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.040 None 1.000 4 2012 2018
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.130 None 1.000 3 2012 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.020 None 1.000 2 2014 2014
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2018 2018
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 2018 2018
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2017 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2017 2017
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 0.010 None 1.000 1 2014 2014
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.010 None 1.000 1 2018 2018
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
disease Disease or Syndrome 51 4 0.010 None 1.000 1 2015 2015
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.010 None 1.000 1 2014 2014
Oxidative Phosphorylation Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2018 2018
Mitochondrial Respiratory Chain Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2013 2013
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None 1.000 1 2 2003 2003
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.010 None 1.000 1 2018 2018
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.010 None 1.000 1 2018 2018
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
Small for gestational age (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0