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
CON00405 LFNG-CDG LFNG
  • SCDO3
  • Spondylocostal dysostosis 3, autosomal recessive
Congenital Disorders of Glycosylation (CDGs) Q8NES3
CON00407 Ehlers-Danlos syndrome, type VI PLOD1
  • Ehlers-Danlos syndrome, kyphoscoliotic type
  • Nevo syndrome
Congenital Disorders of Glycosylation (CDGs) Q02809
CON00408 Bruck syndrome 2 PLOD2
  • BRKS2
  • Osteogenesis imperfecta with congenital joint contractures
Congenital Disorders of Glycosylation (CDGs) O00469
CON00409 Lysyl hydroxylase 3 deficiency PLOD3
  • Bone fragility with contractures, arterial rupture, and deafness
  • LH3 deficiency
Congenital Disorders of Glycosylation (CDGs) O60568
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
CON00415 PIGM-CDG PIGM
  • Autosomal recessive GPI anchor deficiency
  • Glycosylphosphatidylinositol deficiency
Congenital Disorders of Glycosylation (CDGs) Q9H3S5
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
CON00620 DPM3-CDG DPM3
  • CDG-Io
  • Congenital Disorder of Glycosylation, Type Io
Congenital Disorders of Glycosylation (CDGs) Q9P2X0
CON00621 ALG11-CDG ALG11
  • CDG-Ip
  • Congenital Disorder of Glycosylation, Type Ip
Congenital Disorders of Glycosylation (CDGs) Q2TAA5
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
CON00623 DDOST-CDG DDOST
  • CDG-Ir
  • Congenital Disorder of Glycosylation, Type Ir
Congenital Disorders of Glycosylation (CDGs) P39656
CON00624 ALG13-CDG ALG13
  • CDG-Is
  • Congenital Disorder of Glycosylation, Type Is
Congenital Disorders of Glycosylation (CDGs) Q9NP73
CON00625 PGM1-CDG PGM1
  • CDG-It
  • Congenital Disorder of Glycosylation, Type It
Congenital Disorders of Glycosylation (CDGs) P36871
CON00626 TMEM165-CDG TMEM165
  • CDG-IIk
  • Congenital Disorder of Glycosylation, Type IIk
Congenital Disorders of Glycosylation (CDGs) Q9HC07
CON00627 COG6-CDG COG6
  • CDG-IIL
  • Congenital Disorder of Glycosylation, Type IIL
Congenital Disorders of Glycosylation (CDGs) Q9Y2V7
CON00628 Myasthenia, congenital, with tubular aggregates 1 GFPT1
  • CMSTA1
Congenital Disorders of Glycosylation (CDGs) Q06210
CON00629 Mental retardation, autosomal recessive 15 MAN1B1
  • MRT15
Congenital Disorders of Glycosylation (CDGs) Q9UKM7
CON00630 Mental retardation, autosomal recessive 12 ST3GAL3
  • MRT12
Congenital Disorders of Glycosylation (CDGs) Q11203
CON00631 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Congenital Disorders of Glycosylation (CDGs) O94766
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
CON00634 Ehlers-Danlos syndrome, musculocontractural type CHST14
  • Adducted thumb and clubfoot syndrome
Congenital Disorders of Glycosylation (CDGs) Q8NCH0

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