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: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.410 strong 1.000 2 1 2016 2018
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0 1
Restrictive deficit on pulmonary function testing
phenotype Respiratory Tract Diseases Disease or Syndrome 16 6 0.100 None 0 1
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.100 None 0 1
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 5 3 0.100 None 0 1
CUI: C1849489
Disease: Increased serum alanine
Increased serum alanine
phenotype Finding 2 3 0.100 None 0 1
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 37 4 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia
phenotype Finding 11 1 0.100 None 0 1
CUI: C4022160
Disease: Motheaten muscle fibers
Motheaten muscle fibers
phenotype Finding 1 1 0.100 None 0 1
Reduced brain N-acetyl aspartate level by MRS
phenotype Finding 11 8 0.100 None 0 1
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit
phenotype Finding 10 1 0.100 None 0 1
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia
disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 2 0.100 None 0 1
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.100 None 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 44 2 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0 1
CUI: C0041105
Disease: Trismus
Trismus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.100 None 0 1
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 153 37 0.100 None 0 1
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.100 None 0