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Niemann-Pick disease type C1
Summary
- Synonym
-
- NPC1
- Definition
- A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.
- Super Class
- Niemann-Pick disease
External Links
- Disease Ontology
- DOID:0070113
- Mondo Disease Ontology
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15118 | NPC intracellular cholesterol transporter 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7TMD4 | Niemann Pick type C1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12200 | NPC intracellular sterol transporter 1-related protein 1 |
