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
Concept UI Disease Name ▲ Gene Symbol Disease Name Aliases Disease Type UniProt ID Disease IDs
CON00391 Macular corneal dystrophy CHST6
  • Macular corneal dystrophy Type I
  • Macular corneal dystrophy Type II
Congenital Disorders of Glycosylation (CDGs) Q9GZX3
CON00044 Maroteaux-Lamy syndrome, intermediate form ARSB
Lysosomal Storage Diseases (LSDs) P15848
CON00043 Maroteaux-Lamy syndrome, mild form ARSB
Lysosomal Storage Diseases (LSDs) P15848
CON00042 Maroteaux-Lamy syndrome, severe form ARSB
Lysosomal Storage Diseases (LSDs) P15848
CON00630 Mental retardation, autosomal recessive 12 ST3GAL3
  • MRT12
Congenital Disorders of Glycosylation (CDGs) Q11203
CON00629 Mental retardation, autosomal recessive 15 MAN1B1
  • MRT15
Congenital Disorders of Glycosylation (CDGs) Q9UKM7
CON00080 Metachromatic leukodystrophy ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00083 Metachromatic leukodystrophy, adult form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00084 Metachromatic leukodystrophy, due to saposin B deficiency PSAP
  • Sphingolipid activator protein 1 deficiency
Lysosomal Storage Diseases (LSDs) P07602
CON00081 Metachromatic leukodystrophy, infantile form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00082 Metachromatic leukodystrophy, juvenile form ARSA
Lysosomal Storage Diseases (LSDs) P15289
CON00039 Morquio syndrome A GALNS
  • Galactosamine-6-sulphatase deficiency
  • MPS IVA
  • Morquio's syndrome, classic form
  • Mucopolysaccharidosis type IVA
Lysosomal Storage Diseases (LSDs) P34059
CON00040 Morquio syndrome B GLB1
  • MPS IVB
  • Morquio-like syndrome
  • Mucopolysaccharidosis type IVB
Lysosomal Storage Diseases (LSDs) P16278
CON00025 Mucolipidosis II (alpha/beta) GNPTAB
  • I-cell disease
  • ML-II
  • N-Acetylglucosamine-1-phosphotransferase deficiency
Lysosomal Storage Diseases (LSDs) Q3T906
CON00026 Mucolipidosis III (alpha/beta) GNPTAB
  • ML-III
  • Pseudo-Hurler Polydystrophy
Lysosomal Storage Diseases (LSDs) Q3T906
CON00032 Mucopolysaccharidosis II IDS
  • Hunter syndrome
  • MPS II
Lysosomal Storage Diseases (LSDs) P22304
CON00041 Mucopolysaccharidosis VI ARSB
  • MPS VI, Maroteaux-Lamy syndrome
Lysosomal Storage Diseases (LSDs) P15848
CON00045 Mucopolysaccharidosis VII GUSB
  • MPS VII
  • Sly syndrome
Lysosomal Storage Diseases (LSDs) P08236
CON00636 Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN
  • MCAHS1
Congenital Disorders of Glycosylation (CDGs) O95427
CON00631 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Congenital Disorders of Glycosylation (CDGs) O94766
CON00078 Multiple sulfatase deficiency SUMF1
  • MSD
  • Multiple sulfatase deficiency disease
Lysosomal Storage Diseases (LSDs) Q8NBK3
CON00381 Muscular dystrophy, congenital, type 1C FKRP
  • Congenital muscular dystrophy type 1C (CMD1C)
  • FKRP-CDG (cong. muscular dystrophy spectrum)
  • Muscular dystrophy, congenital, type 1C (MDC1C)
  • Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)
Congenital Disorders of Glycosylation (CDGs) Q9H9S5
CON00382 Muscular dystrophy, limb-girdle, type 2I FKRP
  • FKRP-CDG (cong. muscular dystrophy spectrum)
  • Limb-girdle muscular dystrophy type 2I (LGMD2I)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)
Congenital Disorders of Glycosylation (CDGs) Q9H9S5
CON00379 Muscular dystrophy, limb-girdle, type 2M FKTN
  • FKTN-CDG (cong. muscular dystrophy spectrum)
  • Limb-girdle muscular dystrophy type 2M (LGMD2M)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)
Congenital Disorders of Glycosylation (CDGs) O75072
CON00628 Myasthenia, congenital, with tubular aggregates 1 GFPT1
  • CMSTA1
Congenital Disorders of Glycosylation (CDGs) Q06210

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