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SEC61A1 deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.
Mondo Term and Equivalent IDs
MONDO:0100337: SEC61A1 deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MONDO:0100337
High level summary of knowledge for a disease, including descriptions and datasource references.