ETHE1, ETHE1 persulfide dioxygenase, 23474

N. diseases: 46; N. variants: 28
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: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 26 33 1.000 None 1.000 26 28 2004 2019
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 0.300 definitive 1.000 10 2006 2017
Leigh Syndrome due to Mitochondrial Complex V Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 10 2006 2017
Necrotizing encephalopathy, infantile subacute, of Leigh
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 10 2006 2017
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 37 12 0.300 definitive 1.000 10 2006 2017
Leigh Syndrome due to Mitochondrial Complex III Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 1 0.300 definitive 1.000 10 2006 2017
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 10 2006 2017
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 8 0.300 definitive 1.000 10 2006 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.120 None 1.000 2 2006 2015
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0 1
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 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: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity
phenotype Finding 20 1 0.100 None 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria
phenotype Finding 6 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
Cytochrome C oxidase-negative muscle fibers
phenotype Finding 24 1 0.100 None 0
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay
phenotype Finding 39 24 0.100 None 0
Abnormal basal ganglia MRI signal intensity
phenotype Anatomical Abnormality 7 1 0.100 None 0
Abnormal brainstem MRI signal intensity
phenotype Finding 5 0.100 None 0
Focal T2 hyperintense basal ganglia lesion
phenotype Finding 46 3 0.100 None 0
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 7 3 0.100 None 0 1
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0