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
CON00429 PMM2-CDG, infantile multisystem stage PMM2
Congenital Disorders of Glycosylation (CDGs) O15305
CON00430 PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage PMM2
Congenital Disorders of Glycosylation (CDGs) O15305
CON00431 PMM2-CDG, adult stable disability stage PMM2
Congenital Disorders of Glycosylation (CDGs) O15305
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
CON00376 POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) POMT1,POMT2
  • Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1)
  • Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2)
  • Walker-Warburg syndrome (WWS)
Congenital Disorders of Glycosylation (CDGs)
CON00072 Gaucher disease, atypical, due to saposin C deficiency PSAP
Lysosomal Storage Diseases (LSDs) P07602
CON00084 Metachromatic leukodystrophy, due to saposin B deficiency PSAP
  • Sphingolipid activator protein 1 deficiency
Lysosomal Storage Diseases (LSDs) P07602
CON00098 Combined saposin deficiency PSAP
  • prosaposin deficiency
  • saposin deficiency
Lysosomal Storage Diseases (LSDs) P07602
CON00356 RFT1-CDG RFT1
  • CDG-In
  • Congenital disorder of glycosylation, type In
  • RFT1 (flippase) deficiency
Congenital Disorders of Glycosylation (CDGs) Q96AA3
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
CON00034 Sanfilippo syndrome A SGSH
  • MPS IIIA
  • Mucopolysaccharidosis type IIIA
Lysosomal Storage Diseases (LSDs) P51688
CON00412 ST3GAL5-CDG SIAT9
  • Amish infantile epilepsy syndrome
  • Epilepsy syndrome, infantile-onset symptomatic
  • GM3 Synthase deficiency
Congenital Disorders of Glycosylation (CDGs) Q9UNP4
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
CON00398 Autosomal recessive multiple epiphyseal dysplasia SLC26A2
  • Epiphyseal dysplasia, multiple, 4 (EDM4)
Congenital Disorders of Glycosylation (CDGs) P50443
CON00363 SLC35A1-CDG SLC35A1
  • CDG-IIf
  • Congenital disorder of glycosylation, type IIf
Congenital Disorders of Glycosylation (CDGs) P78382
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
CON00399 SLC35D1-CDG SLC35D1
  • Chondrodysplasia, lethal neonatal, with snail-like pelvis
  • Schneckenbecken dysplasia
Congenital Disorders of Glycosylation (CDGs) Q9NTN3
CON00086 Niemann-Pick disease, type A SMPD1
  • neurological type
Lysosomal Storage Diseases (LSDs) P17405
CON00087 Niemann-Pick disease, type B SMPD1
  • non-neurological type
Lysosomal Storage Diseases (LSDs) P17405
CON00622 SRD5A3-CDG SRD5A3
  • CDG-Iq
  • Congenital Disorder of Glycosylation, Type Iq
  • Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
Congenital Disorders of Glycosylation (CDGs) Q9H8P0
CON00630 Mental retardation, autosomal recessive 12 ST3GAL3
  • MRT12
Congenital Disorders of Glycosylation (CDGs) Q11203
CON00078 Multiple sulfatase deficiency SUMF1
  • MSD
  • Multiple sulfatase deficiency disease
Lysosomal Storage Diseases (LSDs) Q8NBK3
CON00355 DOLK-CDG TMEM15
  • CDG-Im
  • Congenital disorder of glycosylation, type Im
  • DK1 deficiency
  • DK1-CDG
  • Dolichol kinase deficiency
Congenital Disorders of Glycosylation (CDGs) Q9UPQ8

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