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 51 - 75 of 152 in total
Concept UI Disease Name Gene Symbol Disease Name Aliases Disease Type UniProt ID ▼ Disease IDs
CON00373 SEC23B-CDG SEC23B
  • CDA II
  • Congenital dyserythropoietic anaemia, type II
  • Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS)
Congenital Disorders of Glycosylation (CDGs) Q15437
CON00402 GALNT3-CDG GALNT3
  • Tumoral calcinosis, hyperphosphatemic, familial
Congenital Disorders of Glycosylation (CDGs) Q14435
CON00359 GCS1-CDG GCS1
  • CDG-IIb
  • Congenital disorder of glycosylation, type IIb
  • MOGS-CDG
Congenital Disorders of Glycosylation (CDGs) Q13724
CON00091 Farber Lipogranulomatosis ASAH1
  • Acid Ceramidase Deficiency
Lysosomal Storage Diseases (LSDs) Q13510
CON00092 Farber Lipogranulomatosis, type 1 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00093 Farber Lipogranulomatosis, type 2 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00094 Farber Lipogranulomatosis, type 3 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00095 Farber Lipogranulomatosis, type 4 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
CON00096 Farber Lipogranulomatosis, type 5 ASAH1
Lysosomal Storage Diseases (LSDs) Q13510
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
CON00630 Mental retardation, autosomal recessive 12 ST3GAL3
  • MRT12
Congenital Disorders of Glycosylation (CDGs) Q11203
CON00358 MGAT2-CDG MGAT2
  • CDG-IIa
  • Congenital disorder of glycosylation, type IIa
Congenital Disorders of Glycosylation (CDGs) Q10469
CON00628 Myasthenia, congenital, with tubular aggregates 1 GFPT1
  • CMSTA1
Congenital Disorders of Glycosylation (CDGs) Q06210
CON00407 Ehlers-Danlos syndrome, type VI PLOD1
  • Ehlers-Danlos syndrome, kyphoscoliotic type
  • Nevo syndrome
Congenital Disorders of Glycosylation (CDGs) Q02809
CON00362 COG7-CDG COG7
  • CDG-IIe
  • Congenital disorder of glycosylation, type IIe
Congenital Disorders of Glycosylation (CDGs) P83436
CON00363 SLC35A1-CDG SLC35A1
  • CDG-IIf
  • Congenital disorder of glycosylation, type IIf
Congenital Disorders of Glycosylation (CDGs) P78382
CON00090 Niemann-Pick disease, type C2 NPC2
Lysosomal Storage Diseases (LSDs) P61916
CON00073 Krabbe disease GALC
  • Galactosylceramide beta-galactosidase deficiency
  • Globoid cell leukodystrophy
  • Krabbe leukodystrophy
  • Leukodystrophy, globoid cell
Lysosomal Storage Diseases (LSDs) P54803
CON00074 Krabbe disease, infantile form GALC
Lysosomal Storage Diseases (LSDs) P54803
CON00075 Krabbe disease, late-onset form GALC
Lysosomal Storage Diseases (LSDs) P54803
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
CON00395 Diastrophic dysplasia SLC26A2
  • Diastrophic dwarfism
Congenital Disorders of Glycosylation (CDGs) P50443
CON00396 Achondrogenesis type IB SLC26A2
  • ACG1B
  • Achondrogenesis, Fraccaro type
Congenital Disorders of Glycosylation (CDGs) P50443
CON00397 Neonatal osseous dysplasia I SLC26A2
  • Atelosteogenesis, type II (AOII)
Congenital Disorders of Glycosylation (CDGs) P50443

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