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autoimmune lymphoproliferative syndrome type 3

Synonym

Definition

An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21.

Super Class

autoimmune lymphoproliferative syndrome autosomal recessive disease

Disease Ontology

DOID:0110119

Mondo Disease Ontology

OMIM

Related Genes

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Gene ID	Gene Symbol	Description	Source
929	CD14	CD14 molecule	DisGeNET
933	CD22	CD22 molecule	DisGeNET
952	CD38	CD38 molecule	DisGeNET
960	CD44	CD44 molecule (IN blood group)	DisGeNET
1056	CEL	carboxyl ester lipase	DisGeNET
2208	FCER2	Fc epsilon receptor II	DisGeNET
2215	FCGR3B	Fc gamma receptor IIIb	DisGeNET
2271	FH	fumarate hydratase	DisGeNET
3383	ICAM1	intercellular adhesion molecule 1	DisGeNET
3554	IL1R1	interleukin 1 receptor type 1	DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of 27 in total

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UniProt ID	Protein Name	Source
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET
O75015	Low affinity immunoglobulin gamma Fc region receptor III-B	DisGeNET
O95822	Malonyl-CoA decarboxylase, mitochondrial	DisGeNET
P05362	Intercellular adhesion molecule 1	DisGeNET
P06734	Low affinity immunoglobulin epsilon Fc receptor	DisGeNET
P07954	Fumarate hydratase, mitochondrial	DisGeNET
P08571	Monocyte differentiation antigen CD14	DisGeNET
P09382	Galectin-1	DisGeNET
P13591	Neural cell adhesion molecule 1	DisGeNET
P14618	Pyruvate kinase PKM	DisGeNET