familial nephrotic syndrome

Summary
Synonym
  • Congenital nephrotic syndrome
Definition
A nephrotic syndrome that has_material_basis_in genetic mutations.
Super Class
monogenic disease nephrotic syndrome
External Links
Disease Ontology
DOID:2590
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying entries 1 - 10 of 48 in total
Gene ID Gene Symbol Description Source
38 ACAT1 acetyl-CoA acetyltransferase 1
240 ALOX5 arachidonate 5-lipoxygenase
412 STS steroid sulfatase
811 CALR calreticulin
1272 CNTN1 contactin 1
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
1577 CYP3A5 cytochrome P450 family 3 subfamily A member 5
1636 ACE angiotensin I converting enzyme
2131 EXT1 exostosin glycosyltransferase 1
Related Glycoprotein
Displaying entry 41 - 41 of 41 in total
UniProt ID Protein Name Source
Q9Y251 Heparanase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024