Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
nephronophthisis 1
Summary
- Synonym
-
- NPH1
- NPHP1
- juvenile nephronophthisis 1
- Definition
- A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.
- Super Class
- nephronophthisis
External Links
- Disease Ontology
- DOID:0111112
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95822 | Malonyl-CoA decarboxylase, mitochondrial | |
| P07911 | Uromodulin | |
| P08842 | Steryl-sulfatase | |
| P12821 | Angiotensin-converting enzyme |
