GlyCosmos Portal

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 **26 - 50** of **152** in total

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Concept UI	Disease Name	Gene Symbol	Disease Name Aliases ▲	Disease Type	UniProt ID	Disease IDs
CON00093	Farber Lipogranulomatosis, type 2	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00094	Farber Lipogranulomatosis, type 3	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00095	Farber Lipogranulomatosis, type 4	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00096	Farber Lipogranulomatosis, type 5	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00104	Pompe disease, infantile-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00105	Pompe disease, late-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00429	PMM2-CDG, infantile multisystem stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305	DOID:0080552
CON00430	PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305	DOID:0080552
CON00431	PMM2-CDG, adult stable disability stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305	DOID:0080552
CON00631	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3		Congenital Disorders of Glycosylation (CDGs)	O94766	DOID:0080575
CON00396	Achondrogenesis type IB	SLC26A2	ACG1B Achondrogenesis, Fraccaro type	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0080055
CON00371	ATP6VOA2-CDG	ATP6V0A2	ATP6VOA2 defect (cutis laxa type II) Cutis laxa, autosomal recessive, type IIA (ARCL2A) Debre-Type cutis laxa V-ATPase a2 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q9Y487	DOID:0070134
CON00091	Farber Lipogranulomatosis	ASAH1	Acid Ceramidase Deficiency	Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00100	Wolman disease	LIPA	Acid lipase deficiency Lysosomal acid lipase deficiency	Lysosomal Storage Diseases (LSDs)	P38571	DOID:0080217 DOID:14497
CON00056	Tay-Sachs disease, infantile form	HEXA	Acute infantile	Lysosomal Storage Diseases (LSDs)	P06865	DOID:3320
CON00634	Ehlers-Danlos syndrome, musculocontractural type	CHST14	Adducted thumb and clubfoot syndrome	Congenital Disorders of Glycosylation (CDGs)	Q8NCH0	DOID:0080736
CON00064	Fabry disease	GLA	Alpha-galactosidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06280	DOID:14499
CON00008	Alpha-mannosidosis	MAN2B1	Alpha-mannosidase B deficiency	Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00412	ST3GAL5-CDG	SIAT9	Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic GM3 Synthase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UNP4	DOID:0060470
CON00397	Neonatal osseous dysplasia I	SLC26A2	Atelosteogenesis, type II (AOII)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0050648
CON00415	PIGM-CDG	PIGM	Autosomal recessive GPI anchor deficiency Glycosylphosphatidylinositol deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9H3S5
CON00408	Bruck syndrome 2	PLOD2	BRKS2 Osteogenesis imperfecta with congenital joint contractures	Congenital Disorders of Glycosylation (CDGs)	O00469	DOID:0060231
CON00011	Beta-mannosidosis	MANBA	Beta-mannosidase deficiency	Lysosomal Storage Diseases (LSDs)	O00462	DOID:3633
CON00409	Lysyl hydroxylase 3 deficiency	PLOD3	Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency	Congenital Disorders of Glycosylation (CDGs)	O60568
CON00393	Spondyloepimetaphyseal dysplasia, pakistani type	PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes SEMD, pakistani type	Congenital Disorders of Glycosylation (CDGs)	O95340	DOID:0050812

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