Details of Disease

General Information of Disease (ID: DISKTVM3)

Disease Name Nephrotic syndrome, type 18
Synonyms NEPHROTIC SYNDROME, TYPE 18; NPHS18
Disease Hierarchy
DISADF8G: Familial nephrotic syndrome
DISKTVM3: Nephrotic syndrome, type 18
Disease Identifiers
MONDO ID
MONDO_0032581
UMLS CUI
C4748549
OMIM ID
618177
MedGen ID
1648464

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
NUP133 OTC294HE Limited Unknown [1]
------------------------------------------------------------------------------------

References

1 Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.