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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 **1 - 25** of **152** in total

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Concept UI	Disease Name	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID	Disease IDs ▲
CON00376	POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)	POMT1,POMT2	Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2) Walker-Warburg syndrome (WWS)	Congenital Disorders of Glycosylation (CDGs)
CON00389	EXT1/EXT2-CDG	EXT1,EXT2	Exostoses, multiple, type 1 Exostoses, multiple, type 2 Hereditary multiple exostoses (HME) Hereditary multiple osteochondromas (HMO) Multiple cartilaginous exostoses	Congenital Disorders of Glycosylation (CDGs)
CON00409	Lysyl hydroxylase 3 deficiency	PLOD3	Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency	Congenital Disorders of Glycosylation (CDGs)	O60568
CON00415	PIGM-CDG	PIGM	Autosomal recessive GPI anchor deficiency Glycosylphosphatidylinositol deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9H3S5
CON00620	DPM3-CDG	DPM3	CDG-Io Congenital Disorder of Glycosylation, Type Io	Congenital Disorders of Glycosylation (CDGs)	Q9P2X0
CON00078	Multiple sulfatase deficiency	SUMF1	MSD Multiple sulfatase deficiency disease	Lysosomal Storage Diseases (LSDs)	Q8NBK3	DOID:0050441
CON00005	Aspartylglucosaminuria	AGA		Lysosomal Storage Diseases (LSDs)	P20933	DOID:0050461
CON00091	Farber Lipogranulomatosis	ASAH1	Acid Ceramidase Deficiency	Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
CON00092	Farber Lipogranulomatosis, type 1	ASAH1		Lysosomal Storage Diseases (LSDs)	Q13510	DOID:0050464
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
CON00378	Fukuyama congenital muscular dystrophy	FKTN	FKTN-CDG (cong. muscular dystrophy spectrum) Fukuyama congenital muscular dystrophy (FCMD) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)	Congenital Disorders of Glycosylation (CDGs)	O75072	DOID:0050559 DOID:0050560
CON00377	POMGNT1-CDG (cong. muscular dystrophy spectrum)	POMGNT1	Muscle-eye-brain disease (MEB) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)	Congenital Disorders of Glycosylation (CDGs)	Q8WZA1	DOID:0050560 DOID:0111236
CON00351	ALG2-CDG	ALG2	CDG-Ii Congenital disorder of glycosylation, type Ii	Congenital Disorders of Glycosylation (CDGs)	Q9H553	DOID:0050571 DOID:0080561
CON00397	Neonatal osseous dysplasia I	SLC26A2	Atelosteogenesis, type II (AOII)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0050648
CON00399	SLC35D1-CDG	SLC35D1	Chondrodysplasia, lethal neonatal, with snail-like pelvis Schneckenbecken dysplasia	Congenital Disorders of Glycosylation (CDGs)	Q9NTN3	DOID:0050775
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
CON00633	Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3	Spondyloepiphyseal dysplasia, Omani type	Congenital Disorders of Glycosylation (CDGs)	Q7LGC8	DOID:0050813
CON00632	Temtamy preaxial brachydactyly syndrome	CHSY1	TPBS	Congenital Disorders of Glycosylation (CDGs)	Q86X52	DOID:0050814
CON00031	Scheie syndrome	IDUA	MPS1-S Mucopolysaccharidosis type IS Mucopolysaccharidosis type V Scheie's syndrome	Lysosomal Storage Diseases (LSDs)	P35475	DOID:0060222 DOID:0111389 DOID:0111390 DOID:12802
CON00408	Bruck syndrome 2	PLOD2	BRKS2 Osteogenesis imperfecta with congenital joint contractures	Congenital Disorders of Glycosylation (CDGs)	O00469	DOID:0060231
CON00414	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)	PIGA	PNH1 Paroxysmal nocturnal hemoglobinuria 1	Congenital Disorders of Glycosylation (CDGs)	P37287	DOID:0060284
CON00412	ST3GAL5-CDG	SIAT9	Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic GM3 Synthase deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UNP4	DOID:0060470

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