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
CON00635 Hyperphosphatasia with mental retardation syndrome 1 PIGV
  • HPMRS1
Congenital Disorders of Glycosylation (CDGs) Q9NUD9
CON00636 Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN
  • MCAHS1
Congenital Disorders of Glycosylation (CDGs) O95427
CON00005 Aspartylglucosaminuria AGA
Lysosomal Storage Diseases (LSDs) P20933
CON00006 Fucosidosis FUCA1
Lysosomal Storage Diseases (LSDs) P04066
CON00008 Alpha-mannosidosis MAN2B1
  • Alpha-mannosidase B deficiency
Lysosomal Storage Diseases (LSDs) O00754
CON00009 Alpha-mannosidosis, type I (early-onset) MAN2B1
Lysosomal Storage Diseases (LSDs) O00754
CON00010 Alpha-mannosidosis, type II (later-onset) MAN2B1
Lysosomal Storage Diseases (LSDs) O00754
CON00011 Beta-mannosidosis MANBA
  • Beta-mannosidase deficiency
Lysosomal Storage Diseases (LSDs) O00462
CON00012 Sialidosis NEU1
  • Mucolipidosis I
  • Neuraminidase deficiency
Lysosomal Storage Diseases (LSDs) Q99519
CON00013 Sialidosis type I NEU1
  • Cherry-red spot myoclonus syndrome
  • Normosomatic sialidosis
Lysosomal Storage Diseases (LSDs) Q99519
CON00014 Sialidosis type II NEU1
  • Dysmorphic sialidosis
  • Neuraminidase 1 deficiency
Lysosomal Storage Diseases (LSDs) Q99519
CON00015 Sialidosis type II, congenital form NEU1
Lysosomal Storage Diseases (LSDs) Q99519
CON00016 Sialidosis type II, infantile form NEU1
Lysosomal Storage Diseases (LSDs) Q99519
CON00017 Sialidosis type II, juvenile form NEU1
Lysosomal Storage Diseases (LSDs) Q99519
CON00020 Schindler disease, type I NAGA
  • infantile type
Lysosomal Storage Diseases (LSDs) P17050
CON00021 Schindler disease, type II NAGA
  • Kanzaki disease
Lysosomal Storage Diseases (LSDs) P17050
CON00023 Galactosialidosis CTSA
  • Combined deficiency of sialidase AND beta galactosidase
Lysosomal Storage Diseases (LSDs) P10619
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
CON00029 Hurler syndrome IDUA
  • Gargoylism, Hurler syndrome
  • MPS1-H
  • Mucopolysaccharidosis type IH
  • Pfaundler-Hurler syndrome
Lysosomal Storage Diseases (LSDs) P35475
CON00030 Hurler-Scheie syndrome IDUA
  • MPS1-HS
  • Mucopolysaccharidosis type IH/S
Lysosomal Storage Diseases (LSDs) P35475
CON00031 Scheie syndrome IDUA
  • MPS1-S
  • Mucopolysaccharidosis type IS
  • Mucopolysaccharidosis type V
  • Scheie's syndrome
Lysosomal Storage Diseases (LSDs) P35475
CON00032 Mucopolysaccharidosis II IDS
  • Hunter syndrome
  • MPS II
Lysosomal Storage Diseases (LSDs) P22304
CON00034 Sanfilippo syndrome A SGSH
  • MPS IIIA
  • Mucopolysaccharidosis type IIIA
Lysosomal Storage Diseases (LSDs) P51688
CON00035 Sanfilippo syndrome B NAGLU
  • MPS IIIB
  • Mucopolysaccharidosis type IIIB
Lysosomal Storage Diseases (LSDs) P54802

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