LIPT1, lipoyltransferase 1, 51601

N. diseases: 40; N. variants: 5
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: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY
disease Disease or Syndrome 2 4 0.700 2 4 2014 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 strong 0
CUI: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders
group Nervous System Diseases Disease or Syndrome 57 0.100 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 36 2 0.100 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Finding 47 3 0.100 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Finding 118 0.100 0
Subclinical abnormal liver function tests
phenotype Finding 117 0.100 0
CUI: C1844947
Disease: Death in early childhood
Death in early childhood
phenotype Finding 103 1 0.100 0
CUI: C1848701
Disease: Elevated hepatic transaminases
Elevated hepatic transaminases
phenotype Finding 118 2 0.100 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Finding 85 3 0.100 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 102 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Disease or Syndrome 69 0.100 0
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 296 20 0.100 0
CUI: C3279149
Disease: Liver dysfunction, mild
Liver dysfunction, mild
phenotype Finding 38 0.100 0
Cortical white matter abnormalities seen on MRI
phenotype Anatomical Abnormality 28 0.100 0
CUI: C4020871
Disease: Dystonic disease
Dystonic disease
disease Disease or Syndrome 147 0.100 0
CUI: C4020873
Disease: Infratentorial atrophy
Infratentorial atrophy
disease Disease or Syndrome 166 8 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C0877359
Disease: Increased liver function tests
Increased liver function tests
phenotype Finding 117 0.100 0
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.100 0
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin
phenotype Finding 6 0.100 0
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 206 0.100 0
Liver function tests abnormal finding
phenotype Finding 117 0.100 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 38 0.100 0