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
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
CON00409	Lysyl hydroxylase 3 deficiency	PLOD3	Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency	Congenital Disorders of Glycosylation (CDGs)	O60568
CON00408	Bruck syndrome 2	PLOD2	BRKS2 Osteogenesis imperfecta with congenital joint contractures	Congenital Disorders of Glycosylation (CDGs)	O00469	DOID:0060231
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:0080734 DOID:14775
CON00635	Hyperphosphatasia with mental retardation syndrome 1	PIGV	HPMRS1	Congenital Disorders of Glycosylation (CDGs)	Q9NUD9	DOID:0070433
CON00636	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	MCAHS1	Congenital Disorders of Glycosylation (CDGs)	O95427	DOID:0080138
CON00415	PIGM-CDG	PIGM	Autosomal recessive GPI anchor deficiency Glycosylphosphatidylinositol deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9H3S5
CON00414	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)	PIGA	PNH1 Paroxysmal nocturnal hemoglobinuria 1	Congenital Disorders of Glycosylation (CDGs)	P37287	DOID:0060284
CON00625	PGM1-CDG	PGM1	CDG-It Congenital Disorder of Glycosylation, Type It	Congenital Disorders of Glycosylation (CDGs)	P36871	DOID:0080570
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
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
CON00012	Sialidosis	NEU1	Mucolipidosis I Neuraminidase deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00013	Sialidosis type I	NEU1	Cherry-red spot myoclonus syndrome Normosomatic sialidosis	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00014	Sialidosis type II	NEU1	Dysmorphic sialidosis Neuraminidase 1 deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00015	Sialidosis type II, congenital form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00016	Sialidosis type II, infantile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00017	Sialidosis type II, juvenile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00035	Sanfilippo syndrome B	NAGLU	MPS IIIB Mucopolysaccharidosis type IIIB	Lysosomal Storage Diseases (LSDs)	P54802	DOID:0111394
CON00020	Schindler disease, type I	NAGA	infantile type	Lysosomal Storage Diseases (LSDs)	P17050	DOID:0112318
CON00021	Schindler disease, type II	NAGA	Kanzaki disease	Lysosomal Storage Diseases (LSDs)	P17050	DOID:0112319
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
CON00348	MPDU1-CDG	MPDU1	CDG-If Congenital disorder of glycosylation, type If	Congenital Disorders of Glycosylation (CDGs)	O75352	DOID:0080558

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