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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 101 - 125 of 152 in total
Concept UI ▲ Disease Name Gene Symbol Disease Name Aliases Disease Type UniProt ID Disease IDs
CON00371 ATP6VOA2-CDG ATP6V0A2
  • ATP6VOA2 defect (cutis laxa type II)
  • Cutis laxa, autosomal recessive, type IIA (ARCL2A)
  • Debre-Type cutis laxa
  • V-ATPase a2 subunit defect
 Congenital Disorders of Glycosylation (CDGs) Q9Y487
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
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)
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
CON00379 Muscular dystrophy, limb-girdle, type 2M FKTN
  • FKTN-CDG (cong. muscular dystrophy spectrum)
  • Limb-girdle muscular dystrophy type 2M (LGMD2M)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)
 Congenital Disorders of Glycosylation (CDGs) O75072
CON00380 Cardiomyopathy, dilated, 1X FKTN
  • Cardiomyopathy, dilated, 1X (CMD1X)
  • Dilated cardiomyopathy with mild or no proximal muscle weakness
  • FKTN-CDG (cong. muscular dystrophy spectrum)
 Congenital Disorders of Glycosylation (CDGs) O75072
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
CON00383 LARGE-CDG (cong. muscular dystrophy spectrum) LARGE
  • Congenital muscular dystrophy type 1D (CMD1D)
  • Muscular dystrophy, congenital, type 1D (MDC1D)
  • Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)
 Congenital Disorders of Glycosylation (CDGs) O95461
CON00384 Duchenne muscular dystrophy DMD
  • DMD
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
 Congenital Disorders of Glycosylation (CDGs) P11532
CON00385 Hereditary inclusion body myopathy type 2 GNE
  • GNE-CDG (hereditary inclusion body myopathy)
  • Hereditary inclusion body myopathy type 2 (HIBM2)
  • Inclusion body myopathy 2, autosomal recessive (IBM2)
 Congenital Disorders of Glycosylation (CDGs) Q9Y223
CON00386 Nonaka myopathy GNE
  • Distal myopathy with rimmed vacuoles (DMRV)
  • Distal myopathy, Nonaka type
  • Nonaka myopathy (NM)
 Congenital Disorders of Glycosylation (CDGs) Q9Y223
CON00388 B4GALT7-CDG B4GALT7
  • Ehlers-Danlos syndrome, progeroid form
  • Ehlers-Danlos syndrome, progeroid type, 1
  • Galactosyltransferase 1 deficiency
 Congenital Disorders of Glycosylation (CDGs) Q9UBV7
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)
CON00391 Macular corneal dystrophy CHST6
  • Macular corneal dystrophy Type I
  • Macular corneal dystrophy Type II
 Congenital Disorders of Glycosylation (CDGs) Q9GZX3
CON00393 Spondyloepimetaphyseal dysplasia, pakistani type PAPSS2
  • Brachyolmia 4 with mild epiphyseal and metaphyseal changes
  • SEMD, pakistani type
 Congenital Disorders of Glycosylation (CDGs) O95340
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
CON00399 SLC35D1-CDG SLC35D1
  • Chondrodysplasia, lethal neonatal, with snail-like pelvis
  • Schneckenbecken dysplasia
 Congenital Disorders of Glycosylation (CDGs) Q9NTN3
CON00401 Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) C1GALT1C1
  • Galactosyltransferase Deficiency
  • Tn syndrome (SOMATIC MUTATION)
 Congenital Disorders of Glycosylation (CDGs) Q96EU7
CON00402 GALNT3-CDG GALNT3
  • Tumoral calcinosis, hyperphosphatemic, familial
 Congenital Disorders of Glycosylation (CDGs) Q14435
CON00404 B3GALTL-CDG B3GALTL
  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
  • Peters-plus syndrome
 Congenital Disorders of Glycosylation (CDGs) Q6Y288
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