ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
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.
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0
CUI: C0041657
Disease: Unconscious State
Unconscious State
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 13 1 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
phenotype Musculoskeletal Diseases Pathologic Function 36 15 0.300 strong 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency
phenotype Finding 15 1 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
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
CUI: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria
phenotype Finding 8 0.100 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 3 0.100 None 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 59 5 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 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: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 22 15 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0