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 126 - 150 of 152 in total
Concept UI Disease Name ▲ Gene Symbol Disease Name Aliases Disease Type UniProt ID Disease IDs
CON00058 Sandhoff disease HEXB
  • GM2-gangliosidosis, type II
Lysosomal Storage Diseases (LSDs) P07686
CON00061 Sandhoff disease, adult form HEXB
Lysosomal Storage Diseases (LSDs) P07686
CON00059 Sandhoff disease, infantile form HEXB
Lysosomal Storage Diseases (LSDs) P07686
CON00060 Sandhoff disease, juvenile form HEXB
Lysosomal Storage Diseases (LSDs) P07686
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
CON00036 Sanfilippo syndrome C HGSNAT
  • MPS IIIC
  • Mucopolysaccharidosis type IIIC
Lysosomal Storage Diseases (LSDs) Q68CP4
CON00037 Sanfilippo syndrome D GNS
  • MPS IIID
  • Mucopolysaccharidosis type IIID
Lysosomal Storage Diseases (LSDs) P15586
CON00031 Scheie syndrome IDUA
  • MPS1-S
  • Mucopolysaccharidosis type IS
  • Mucopolysaccharidosis type V
  • Scheie's syndrome
Lysosomal Storage Diseases (LSDs) P35475
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
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
CON00393 Spondyloepimetaphyseal dysplasia, pakistani type PAPSS2
  • Brachyolmia 4 with mild epiphyseal and metaphyseal changes
  • SEMD, pakistani type
Congenital Disorders of Glycosylation (CDGs) O95340
CON00633 Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3
  • Spondyloepiphyseal dysplasia, Omani type
Congenital Disorders of Glycosylation (CDGs) Q7LGC8
CON00626 TMEM165-CDG TMEM165
  • CDG-IIk
  • Congenital Disorder of Glycosylation, Type IIk
Congenital Disorders of Glycosylation (CDGs) Q9HC07
CON00369 TUSC3-CDG TUSC3
  • Mental retardation, autosomal recessive 22
  • Mental retardation, autosomal recessive 7 (MRT7)
  • Oligosaccharyltransferase TUSC3 subunit defect
Congenital Disorders of Glycosylation (CDGs) Q13454
CON00055 Tay-Sachs disease HEXA
  • GM2-Gangliosidosis, B variant
  • GM2-gangliosidosis, type I
  • Hexosaminidase A deficiency
Lysosomal Storage Diseases (LSDs) P06865
CON00056 Tay-Sachs disease, infantile form HEXA
  • Acute infantile
Lysosomal Storage Diseases (LSDs) P06865
CON00057 Tay-Sachs disease, late-onset forms HEXA
  • Juvenile/Chronic/Adult-onset
Lysosomal Storage Diseases (LSDs) P06865
CON00632 Temtamy preaxial brachydactyly syndrome CHSY1
  • TPBS
Congenital Disorders of Glycosylation (CDGs) Q86X52

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