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 ▼
CON00087 Niemann-Pick disease, type B SMPD1
  • non-neurological type
Lysosomal Storage Diseases (LSDs) P17405
CON00086 Niemann-Pick disease, type A SMPD1
  • neurological type
Lysosomal Storage Diseases (LSDs) P17405
CON00412 ST3GAL5-CDG SIAT9
  • Amish infantile epilepsy syndrome
  • Epilepsy syndrome, infantile-onset symptomatic
  • GM3 Synthase deficiency
Congenital Disorders of Glycosylation (CDGs) Q9UNP4
CON00414 Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) PIGA
  • PNH1
  • Paroxysmal nocturnal hemoglobinuria 1
Congenital Disorders of Glycosylation (CDGs) P37287
CON00408 Bruck syndrome 2 PLOD2
  • BRKS2
  • Osteogenesis imperfecta with congenital joint contractures
Congenital Disorders of Glycosylation (CDGs) O00469
CON00031 Scheie syndrome IDUA
  • MPS1-S
  • Mucopolysaccharidosis type IS
  • Mucopolysaccharidosis type V
  • Scheie's syndrome
Lysosomal Storage Diseases (LSDs) P35475
CON00632 Temtamy preaxial brachydactyly syndrome CHSY1
  • TPBS
Congenital Disorders of Glycosylation (CDGs) Q86X52
CON00633 Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3
  • Spondyloepiphyseal dysplasia, Omani type
Congenital Disorders of Glycosylation (CDGs) Q7LGC8
CON00393 Spondyloepimetaphyseal dysplasia, pakistani type PAPSS2
  • Brachyolmia 4 with mild epiphyseal and metaphyseal changes
  • SEMD, pakistani type
Congenital Disorders of Glycosylation (CDGs) O95340
CON00399 SLC35D1-CDG SLC35D1
  • Chondrodysplasia, lethal neonatal, with snail-like pelvis
  • Schneckenbecken dysplasia
Congenital Disorders of Glycosylation (CDGs) Q9NTN3
CON00397 Neonatal osseous dysplasia I SLC26A2
  • Atelosteogenesis, type II (AOII)
Congenital Disorders of Glycosylation (CDGs) P50443
CON00351 ALG2-CDG ALG2
  • CDG-Ii
  • Congenital disorder of glycosylation, type Ii
Congenital Disorders of Glycosylation (CDGs) Q9H553
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
CON00378 Fukuyama congenital muscular dystrophy FKTN
  • FKTN-CDG (cong. muscular dystrophy spectrum)
  • Fukuyama congenital muscular dystrophy (FCMD)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
Congenital Disorders of Glycosylation (CDGs) O75072
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
CON00005 Aspartylglucosaminuria AGA
Lysosomal Storage Diseases (LSDs) P20933
CON00078 Multiple sulfatase deficiency SUMF1
  • MSD
  • Multiple sulfatase deficiency disease
Lysosomal Storage Diseases (LSDs) Q8NBK3
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)
CON00389 EXT1/EXT2-CDG EXT1,EXT2
  • Exostoses, multiple, type 1
  • Exostoses, multiple, type 2
  • Hereditary multiple exostoses (HME)
  • Hereditary multiple osteochondromas (HMO)
  • Multiple cartilaginous exostoses
Congenital Disorders of Glycosylation (CDGs)
CON00409 Lysyl hydroxylase 3 deficiency PLOD3
  • Bone fragility with contractures, arterial rupture, and deafness
  • LH3 deficiency
Congenital Disorders of Glycosylation (CDGs) O60568

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