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leigh disease
(phenotype)
Summary
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
LRPPRC
SDHA
BCS1L
COX15
SURF1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
heterocycle metabolic process
organic cyclic compound metabolic process
cellular aromatic compound metabolic process
MOOTHA_VOXPHOS
MOOTHA_HUMAN_MITODB_6_2002
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Curated Studies
Most Correlated Studies
OMIM - Leigh's disease
Leigh's disease and MELAS disease fibroblasts and induced pluripotent stem cells
Mouse Phenotypes - Degenerative disease of the CNS
OMIM - Degenerative disease of the central nervous system
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Literature
Most Relevant Literature
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable caus…
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Acarbose suppresses symptoms of mitochondrial disease in a mouse model of Leigh syndrome.
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Clinical Trials
Most Relevant Clinical Trials
The Leigh Syndrome Registry
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
Atomoxetine and Huntington's Disease
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