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nephronophthisis 9
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.
Uniprot Description An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Disease Ontology Description A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111120
OMIM:613824
UMLS:C3151188
MONDO:0013444
High level summary of knowledge for a disease, including descriptions and datasource references.