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Glyco-Disease Genes Database (GDGDB)

GDGDB is a database of glycan-related diseases and their responsible genes.

Source	Last Updated
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **152** in total

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Concept UI ▼	Disease Name	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs
CON00344	MPI-CDG	MPI	CDG-Ib Congenital disorder of glycosylation, type Ib Mannosephosphate isomerase deficiency Protein-losing enteropathy-hepatic fibrosis syndrome Saguenay-Lac Saint-Jean syndrome	Congenital Disorders of Glycosylation (CDGs)	P34949	DOID:0080554
CON00343	PMM2-CDG	PMM2	CDG-Ia Congenital disorder of glycosylation, type Ia Jaeken syndrome Phosphomannomutase 2 deficiency	Congenital Disorders of Glycosylation (CDGs)	O15305	DOID:0080552
CON00105	Pompe disease, late-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00104	Pompe disease, infantile-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00103	Pompe disease	GAA	GSD type II Lysosomal alpha 1,4 Glucosidase Deficiency Disease	Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00100	Wolman disease	LIPA	Acid lipase deficiency Lysosomal acid lipase deficiency	Lysosomal Storage Diseases (LSDs)	P38571	DOID:0080217 DOID:14497
CON00098	Combined saposin deficiency	PSAP	prosaposin deficiency saposin deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:0111330
CON00096	Farber Lipogranulomatosis, type 5	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00095	Farber Lipogranulomatosis, type 4	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00094	Farber Lipogranulomatosis, type 3	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00093	Farber Lipogranulomatosis, type 2	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00092	Farber Lipogranulomatosis, type 1	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00091	Farber Lipogranulomatosis	ASAH1	Acid Ceramidase Deficiency	Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00090	Niemann-Pick disease, type C2	NPC2		Lysosomal Storage Diseases (LSDs)	P61916	DOID:0070114
CON00089	Niemann-Pick disease, type C1	NPC1	Niemann-Pick disease, type D, included	Lysosomal Storage Diseases (LSDs)	O15118	DOID:0070113
CON00087	Niemann-Pick disease, type B	SMPD1	non-neurological type	Lysosomal Storage Diseases (LSDs)	P17405	DOID:0070112
CON00086	Niemann-Pick disease, type A	SMPD1	neurological type	Lysosomal Storage Diseases (LSDs)	P17405	DOID:0070111
CON00084	Metachromatic leukodystrophy, due to saposin B deficiency	PSAP	Sphingolipid activator protein 1 deficiency	Lysosomal Storage Diseases (LSDs)	P07602	DOID:10581
CON00083	Metachromatic leukodystrophy, adult form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00082	Metachromatic leukodystrophy, juvenile form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00081	Metachromatic leukodystrophy, infantile form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00080	Metachromatic leukodystrophy	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00078	Multiple sulfatase deficiency	SUMF1	MSD Multiple sulfatase deficiency disease	Lysosomal Storage Diseases (LSDs)	Q8NBK3	DOID:0050441
CON00075	Krabbe disease, late-onset form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00074	Krabbe disease, infantile form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587

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