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focal segmental glomerulosclerosis 6
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.
Uniprot Description A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema.
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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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111131
OMIM:614131
UMLS:C3279905
MONDO:0013589
High level summary of knowledge for a disease, including descriptions and datasource references.