Details of Disease

General Information of Disease (ID: DISSAJSU)

Disease Name Nephrotic syndrome, type 20
Synonyms NPHS20; NEPHROTIC SYNDROME, TYPE 20
Disease Hierarchy
DISADF8G: Familial nephrotic syndrome
DISSAJSU: Nephrotic syndrome, type 20
Disease Identifiers
MONDO ID
MONDO_0026726
UMLS CUI
C5193011
OMIM ID
301028
MedGen ID
1678854

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
TBC1D8B OTSYGOXH Strong X-linked [1]
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References

1 TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. Am J Hum Genet. 2019 Feb 7;104(2):348-355. doi: 10.1016/j.ajhg.2018.12.016. Epub 2019 Jan 17.