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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
karyomegalic interstitial nephritis
Summary
- Synonym
-
- KIN
- KMIN
- Definition
- An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.
- Super Class
- autosomal recessive disease interstitial nephritis
External Links
- Disease Ontology
- DOID:0060911
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P38571 | Lysosomal acid lipase/cholesteryl ester hydrolase |
