GlyCosmos Portal

Niemann-Pick disease type C1

Synonym

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 entries **1 - 10** of 18 in total

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Gene ID	Gene Symbol	Description	Source
811	CALR	calreticulin	DisGeNET
933	CD22	CD22 molecule	DisGeNET
1118	CHIT1	chitinase 1	DisGeNET
1374	CPT1A	carnitine palmitoyltransferase 1A	DisGeNET
2194	FASN	fatty acid synthase	DisGeNET
2208	FCER2	Fc epsilon receptor II	DisGeNET
2220	FCN2	ficolin 2	DisGeNET
2629	GBA1	glucosylceramidase beta 1	DisGeNET DisGeNET
2817	GPC1	glypican 1	DisGeNET
3965	LGALS9	galectin 9	DisGeNET

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
18145	Npc1	NPC intracellular cholesterol transporter 1	Alliance of Genome Resources

Related Glycoprotein

Displaying entries **1 - 10** of 14 in total

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UniProt ID	Protein Name	Source
O15118	NPC intracellular cholesterol transporter 1	Glyco-Disease Genes Database
P04062	Lysosomal acid glucosylceramidase	DisGeNET DisGeNET
P06734	Low affinity immunoglobulin epsilon Fc receptor	DisGeNET
P17405	Sphingomyelin phosphodiesterase	DisGeNET
P20273	B-cell receptor CD22	DisGeNET
P27797	Calreticulin	DisGeNET
P35052	Glypican-1	DisGeNET
P38571	Lysosomal acid lipase/cholesteryl ester hydrolase	DisGeNET DisGeNET DisGeNET
P49327	Fatty acid synthase	DisGeNET
P50416	Carnitine O-palmitoyltransferase 1, liver isoform	DisGeNET