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
Concept UI Disease Name Gene Symbol Disease Name Aliases ▼ Disease Type UniProt ID Disease IDs
CON00030 Hurler-Scheie syndrome IDUA
  • MPS1-HS
  • Mucopolysaccharidosis type IH/S
Lysosomal Storage Diseases (LSDs) P35475
CON00045 Mucopolysaccharidosis VII GUSB
  • MPS VII
  • Sly syndrome
Lysosomal Storage Diseases (LSDs) P08236
CON00041 Mucopolysaccharidosis VI ARSB
  • MPS VI, Maroteaux-Lamy syndrome
Lysosomal Storage Diseases (LSDs) P15848
CON00040 Morquio syndrome B GLB1
  • MPS IVB
  • Morquio-like syndrome
  • Mucopolysaccharidosis type IVB
Lysosomal Storage Diseases (LSDs) P16278
CON00037 Sanfilippo syndrome D GNS
  • MPS IIID
  • Mucopolysaccharidosis type IIID
Lysosomal Storage Diseases (LSDs) P15586
CON00036 Sanfilippo syndrome C HGSNAT
  • MPS IIIC
  • Mucopolysaccharidosis type IIIC
Lysosomal Storage Diseases (LSDs) Q68CP4
CON00035 Sanfilippo syndrome B NAGLU
  • MPS IIIB
  • Mucopolysaccharidosis type IIIB
Lysosomal Storage Diseases (LSDs) P54802
CON00034 Sanfilippo syndrome A SGSH
  • MPS IIIA
  • Mucopolysaccharidosis type IIIA
Lysosomal Storage Diseases (LSDs) P51688
CON00026 Mucolipidosis III (alpha/beta) GNPTAB
  • ML-III
  • Pseudo-Hurler Polydystrophy
Lysosomal Storage Diseases (LSDs) Q3T906
CON00636 Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN
  • MCAHS1
Congenital Disorders of Glycosylation (CDGs) O95427
CON00404 B3GALTL-CDG B3GALTL
  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
  • Peters-plus syndrome
Congenital Disorders of Glycosylation (CDGs) Q6Y288
CON00021 Schindler disease, type II NAGA
  • Kanzaki disease
Lysosomal Storage Diseases (LSDs) P17050
CON00057 Tay-Sachs disease, late-onset forms HEXA
  • Juvenile/Chronic/Adult-onset
Lysosomal Storage Diseases (LSDs) P06865
CON00025 Mucolipidosis II (alpha/beta) GNPTAB
  • I-cell disease
  • ML-II
  • N-Acetylglucosamine-1-phosphotransferase deficiency
Lysosomal Storage Diseases (LSDs) Q3T906
CON00032 Mucopolysaccharidosis II IDS
  • Hunter syndrome
  • MPS II
Lysosomal Storage Diseases (LSDs) P22304
CON00635 Hyperphosphatasia with mental retardation syndrome 1 PIGV
  • HPMRS1
Congenital Disorders of Glycosylation (CDGs) Q9NUD9
CON00029 Hurler syndrome IDUA
  • Gargoylism, Hurler syndrome
  • MPS1-H
  • Mucopolysaccharidosis type IH
  • Pfaundler-Hurler syndrome
Lysosomal Storage Diseases (LSDs) P35475
CON00401 Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) C1GALT1C1
  • Galactosyltransferase Deficiency
  • Tn syndrome (SOMATIC MUTATION)
Congenital Disorders of Glycosylation (CDGs) Q96EU7
CON00073 Krabbe disease GALC
  • Galactosylceramide beta-galactosidase deficiency
  • Globoid cell leukodystrophy
  • Krabbe leukodystrophy
  • Leukodystrophy, globoid cell
Lysosomal Storage Diseases (LSDs) P54803
CON00039 Morquio syndrome A GALNS
  • Galactosamine-6-sulphatase deficiency
  • MPS IVA
  • Morquio's syndrome, classic form
  • Mucopolysaccharidosis type IVA
Lysosomal Storage Diseases (LSDs) P34059
CON00103 Pompe disease GAA
  • GSD type II
  • Lysosomal alpha 1,4 Glucosidase Deficiency Disease
Lysosomal Storage Diseases (LSDs) P10253
CON00385 Hereditary inclusion body myopathy type 2 GNE
  • GNE-CDG (hereditary inclusion body myopathy)
  • Hereditary inclusion body myopathy type 2 (HIBM2)
  • Inclusion body myopathy 2, autosomal recessive (IBM2)
Congenital Disorders of Glycosylation (CDGs) Q9Y223
CON00058 Sandhoff disease HEXB
  • GM2-gangliosidosis, type II
Lysosomal Storage Diseases (LSDs) P07686
CON00055 Tay-Sachs disease HEXA
  • GM2-Gangliosidosis, B variant
  • GM2-gangliosidosis, type I
  • Hexosaminidase A deficiency
Lysosomal Storage Diseases (LSDs) P06865
CON00062 GM2-gangliosidosis, AB variant GM2A
  • GM2 activator deficiency
  • Tay-Sachs disease, AB variant
Lysosomal Storage Diseases (LSDs) P17900

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