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congenital central hypoventilation
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
MYO1H
ANK3
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
positive regulation of membrane depolarization during cardiac muscle cell action potential
Ankyrin-3, death domain
maintenance of protein location in plasma membrane
regulation of membrane depolarization during cardiac muscle cell action potential
regulation of membrane depolarization during action potential
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OMIM - Multisystem Complex Disorders
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Literature
Most Relevant Literature
Congenital central hypoventilation syndrome and hypoglycaemia.
Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonom…
Case reports of congenital central hypoventilation syndrome.
A case of congenital central hypoventilation syndrome.
Progressive gray matter changes in patients with congenital central hypoventilation syndrome.
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Clinical Trials
Most Relevant Clinical Trials
Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene
PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentat…
International Congenital Central Hypoventilation Syndrome (CCHS) Registry
Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS)
Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoven…
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