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 101 - 125 of 152 in total
Concept UI Disease Name Gene Symbol Disease Name Aliases Disease Type UniProt ID ▲ Disease IDs
CON00621 ALG11-CDG ALG11
  • CDG-Ip
  • Congenital Disorder of Glycosylation, Type Ip
Congenital Disorders of Glycosylation (CDGs) Q2TAA5
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
CON00036 Sanfilippo syndrome C HGSNAT
  • MPS IIIC
  • Mucopolysaccharidosis type IIIC
Lysosomal Storage Diseases (LSDs) Q68CP4
CON00404 B3GALTL-CDG B3GALTL
  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
  • Peters-plus syndrome
Congenital Disorders of Glycosylation (CDGs) Q6Y288
CON00633 Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3
  • Spondyloepiphyseal dysplasia, Omani type
Congenital Disorders of Glycosylation (CDGs) Q7LGC8
CON00632 Temtamy preaxial brachydactyly syndrome CHSY1
  • TPBS
Congenital Disorders of Glycosylation (CDGs) Q86X52
CON00078 Multiple sulfatase deficiency SUMF1
  • MSD
  • Multiple sulfatase deficiency disease
Lysosomal Storage Diseases (LSDs) Q8NBK3
CON00634 Ehlers-Danlos syndrome, musculocontractural type CHST14
  • Adducted thumb and clubfoot syndrome
Congenital Disorders of Glycosylation (CDGs) Q8NCH0
CON00405 LFNG-CDG LFNG
  • SCDO3
  • Spondylocostal dysostosis 3, autosomal recessive
Congenital Disorders of Glycosylation (CDGs) Q8NES3
CON00364 COG1-CDG COG1
  • CDG-IIg
  • CDGII/COG1 Cerebrocostomandibular-like syndrome
  • COG1 deficiency
  • Congenital disorder of glycosylation, type IIg
Congenital Disorders of Glycosylation (CDGs) Q8WTW3
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
CON00346 ALG3-CDG ALG3
  • CDG-Id
  • Congenital disorder of glycosylation, type Id
Congenital Disorders of Glycosylation (CDGs) Q92685
CON00360 SLC35C1-CDG SLC35C1
  • CDG-IIc
  • Congenital disorder of glycosylation, type IIc
  • Leukocyte adhesion deficiency, type 2
  • Rambam Hasharon syndrome
Congenital Disorders of Glycosylation (CDGs) Q96A29
CON00356 RFT1-CDG RFT1
  • CDG-In
  • Congenital disorder of glycosylation, type In
  • RFT1 (flippase) deficiency
Congenital Disorders of Glycosylation (CDGs) Q96AA3
CON00401 Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) C1GALT1C1
  • Galactosyltransferase Deficiency
  • Tn syndrome (SOMATIC MUTATION)
Congenital Disorders of Glycosylation (CDGs) Q96EU7
CON00365 COG8-CDG COG8
  • CDG-IIh
  • COG8 deficiency
  • Congenital disorder of glycosylation, type IIh
Congenital Disorders of Glycosylation (CDGs) Q96MW5
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
CON00353 ALG1-CDG ALG1
  • CDG-Ik
  • Congenital disorder of glycosylation, type Ik
Congenital Disorders of Glycosylation (CDGs) Q9BT22
CON00349 ALG12-CDG ALG12
  • CDG-Ig
  • Congenital disorder of glycosylation, type Ig
Congenital Disorders of Glycosylation (CDGs) Q9BV10

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