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: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.610 definitive 1.000 10 2002 2016
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		disease Disease or Syndrome 2 15 0.600 None 1.000 15 15 2007 2018
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.140 None 1.000 4 2 2016 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.110 None 1.000 1 2017 2017
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.110 None 1.000 1 2019 2019
CUI: C0947912
Disease: Myasthenias
Myasthenias 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 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
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		phenotype Digestive System Diseases Finding 11 0.100 None 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		phenotype Finding 76 7 0.100 None 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		phenotype Finding 15 1 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1865292
Disease: Nonketotic hypoglycemia
Nonketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Finding 11 0.100 None 0
CUI: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria 		phenotype Finding 8 0.100 None 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype Finding 117 0.100 None 0
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		phenotype Finding 27 0.100 None 0
CUI: C4073171
Disease: Elevated plasma acylcarnitine levels
Elevated plasma acylcarnitine levels 		phenotype Finding 5 0.100 None 0
CUI: C4024700
Disease: Elevated creatine kinase after exercise
Elevated creatine kinase after exercise 		phenotype Finding 7 0.100 None 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		phenotype Finding 41 3 0.100 None 0
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.100 None 0
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		phenotype Nervous System Diseases Pathologic Function 26 0.100 None 0