Details of Disease

General Information of Disease (ID: DIST4PBC)

Disease Name Focal segmental glomerulosclerosis 6
Synonyms
glomerulosclerosis, focal segmental, 6; MYO1E focal segmental glomerulosclerosis; focal segmental glomerulosclerosis type 6; focal segmental glomerulosclerosis caused by mutation in MYO1E; focal segmental glomerulosclerosis 6; FSGS6
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.
Disease Hierarchy
DISCPRVI: Inherited focal segmental glomerulosclerosis
DIST4PBC: Focal segmental glomerulosclerosis 6
Disease Identifiers
MONDO ID
MONDO_0013589
UMLS CUI
C3279905
OMIM ID
614131
MedGen ID
481535

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYO1E OTM9YSIZ Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.