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 26 - 50 of 152 in total
Concept UI Disease Name Gene Symbol ▲ Disease Name Aliases Disease Type UniProt ID Disease IDs
CON00404 B3GALTL-CDG B3GALTL
  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
  • Peters-plus syndrome
Congenital Disorders of Glycosylation (CDGs) Q6Y288
CON00631 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3
Congenital Disorders of Glycosylation (CDGs) O94766
CON00361 B4GALT1-CDG B4GALT1
  • CDG-IId
  • Congenital disorder of glycosylation, type IId
Congenital Disorders of Glycosylation (CDGs) P15291
CON00388 B4GALT7-CDG B4GALT7
  • Ehlers-Danlos syndrome, progeroid form
  • Ehlers-Danlos syndrome, progeroid type, 1
  • Galactosyltransferase 1 deficiency
Congenital Disorders of Glycosylation (CDGs) Q9UBV7
CON00401 Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) C1GALT1C1
  • Galactosyltransferase Deficiency
  • Tn syndrome (SOMATIC MUTATION)
Congenital Disorders of Glycosylation (CDGs) Q96EU7
CON00634 Ehlers-Danlos syndrome, musculocontractural type CHST14
  • Adducted thumb and clubfoot syndrome
Congenital Disorders of Glycosylation (CDGs) Q8NCH0
CON00633 Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3
  • Spondyloepiphyseal dysplasia, Omani type
Congenital Disorders of Glycosylation (CDGs) Q7LGC8
CON00391 Macular corneal dystrophy CHST6
  • Macular corneal dystrophy Type I
  • Macular corneal dystrophy Type II
Congenital Disorders of Glycosylation (CDGs) Q9GZX3
CON00632 Temtamy preaxial brachydactyly syndrome CHSY1
  • TPBS
Congenital Disorders of Glycosylation (CDGs) Q86X52
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
CON00367 COG4-CDG COG4
  • CDG-IIj
  • Congenital disorder of glycosylation, type IIj
Congenital Disorders of Glycosylation (CDGs) Q9H9E3
CON00366 COG5-CDG COG5
  • CDG-IIi
  • Congenital disorder of glycosylation, type IIi
Congenital Disorders of Glycosylation (CDGs) Q9UP83
CON00627 COG6-CDG COG6
  • CDG-IIL
  • Congenital Disorder of Glycosylation, Type IIL
Congenital Disorders of Glycosylation (CDGs) Q9Y2V7
CON00362 COG7-CDG COG7
  • CDG-IIe
  • Congenital disorder of glycosylation, type IIe
Congenital Disorders of Glycosylation (CDGs) P83436
CON00365 COG8-CDG COG8
  • CDG-IIh
  • COG8 deficiency
  • Congenital disorder of glycosylation, type IIh
Congenital Disorders of Glycosylation (CDGs) Q96MW5
CON00023 Galactosialidosis CTSA
  • Combined deficiency of sialidase AND beta galactosidase
Lysosomal Storage Diseases (LSDs) P10619
CON00623 DDOST-CDG DDOST
  • CDG-Ir
  • Congenital Disorder of Glycosylation, Type Ir
Congenital Disorders of Glycosylation (CDGs) P39656
CON00384 Duchenne muscular dystrophy DMD
  • DMD
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Congenital Disorders of Glycosylation (CDGs) P11532
CON00352 DPAGT1-CDG DPAGT1
  • CDG-Ij
  • Congenital disorder of glycosylation, type Ij
Congenital Disorders of Glycosylation (CDGs) Q9H3H5
CON00347 DPM1-CDG DPM1
  • CDG-Ie
  • Congenital disorder of glycosylation, type Ie
Congenital Disorders of Glycosylation (CDGs) O60762
CON00620 DPM3-CDG DPM3
  • CDG-Io
  • Congenital Disorder of Glycosylation, Type Io
Congenital Disorders of Glycosylation (CDGs) Q9P2X0
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)
CON00381 Muscular dystrophy, congenital, type 1C FKRP
  • Congenital muscular dystrophy type 1C (CMD1C)
  • FKRP-CDG (cong. muscular dystrophy spectrum)
  • Muscular dystrophy, congenital, type 1C (MDC1C)
  • Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)
Congenital Disorders of Glycosylation (CDGs) Q9H9S5
CON00382 Muscular dystrophy, limb-girdle, type 2I FKRP
  • FKRP-CDG (cong. muscular dystrophy spectrum)
  • Limb-girdle muscular dystrophy type 2I (LGMD2I)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)
Congenital Disorders of Glycosylation (CDGs) Q9H9S5
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

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