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Standards Ontologies Notations
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
Disease Ontology
DOID:0070113
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4864 NPC1 NPC intracellular cholesterol transporter 1
29881 NPC1L1 NPC1 like intracellular cholesterol transporter 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18145 Npc1 NPC intracellular cholesterol transporter 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
432367 Npc1l1 NPC1 like intracellular cholesterol transporter 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
33072 Npc1b Niemann-Pick type C-1b
Displaying all 2 entries
Gene ID Gene Symbol Description Source
176165 ncr-2 NPC intracellular cholesterol transporter 1 homolog 2
180719 ncr-1 NPC intracellular cholesterol transporter 1 homolog 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
856101 NCR1 sphingolipid transporter
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O15118 NPC intracellular cholesterol transporter 1
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024