GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 126 - 150 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0080507
  • Cornelia de Lange syndrome 3
  • Aliases:
    • CDLS3
    • Cornelia De Lange syndrome 3 with or without midline brain defects
Homo sapiens (human)
DOID:1770
  • toxic megacolon
Homo sapiens (human)
DOID:11766
  • blind hypotensive eye
Homo sapiens (human)
DOID:0080506
  • Cornelia de Lange syndrome 2
Homo sapiens (human)
DOID:11372
  • megacolon
  • Aliases:
    • Dilatation of colon
Homo sapiens (human)
DOID:0080899
  • lung pleomorphic carcinoma
Homo sapiens (human)
DOID:0060858
  • hypotonia-cystinuria syndrome
  • Aliases:
    • cystinuria with mitochondrial disease
Homo sapiens (human)
DOID:0080587
  • congenital myasthenic syndrome 22
Homo sapiens (human)
DOID:0070266
  • congenital disorder of glycosylation type IIn
  • Aliases:
    • CDG IIn
    • CDG syndrome type IIn
    • CDG2N
    • CDGIIdn
    • Carbohydrate deficient glycoprotein syndrome type IIn
    • Congenital disorder of glycosylation type 2n
    • SLC39A8-CDG
Homo sapiens (human)
DOID:0080537
  • hypermanganesemia with dystonia 2
Homo sapiens (human)
DOID:0081331
  • glycogen storage disease Ic
Homo sapiens (human)
DOID:0081330
  • glycogen storage disease Ib
Homo sapiens (human)
DOID:0060465
  • fibrochondrogenesis
Homo sapiens (human)
DOID:0070403
  • hypomyelinating leukodystrophy 26
  • Aliases:
    • HLD26
Homo sapiens (human)
DOID:7849
  • dendritic cell sarcoma
Homo sapiens (human)
DOID:0070265
  • congenital disorder of glycosylation type IIm
  • Aliases:
    • SLC35A2-CDG
    • congenital disorder of glycosylation type 2m
    • developmental and epileptic encephalopathy 22
    • epileptic encephalopathy, early infantile, 22
Homo sapiens (human)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Homo sapiens (human)
DOID:0070258
  • congenital disorder of glycosylation type IIf
  • Aliases:
    • CDG IIf
    • CDG2F
    • CDGIIdf
    • CMP-sialic acid transporter deficiency
    • Carbohydrate deficient glycoprotein syndrome type IIf
    • SLC35A1-CDG
Homo sapiens (human)
DOID:11130
  • secondary hypertension
Homo sapiens (human)
DOID:10486
  • intestinal atresia
Homo sapiens (human)
DOID:0090044
  • dystonia 9
Homo sapiens (human)
DOID:0111313
  • idiopathic generalized epilepsy 12
  • Aliases:
    • EIG12
Homo sapiens (human)
DOID:0070300
  • multiple epiphyseal dysplasia 4
  • Aliases:
    • EDM4
    • MED4
    • Polyepiphyseal dysplasia type 4
    • multiple epiphyseal dysplasia with bilateral patellae
    • multiple epiphyseal dysplasia with clubfoot
    • rMED
Homo sapiens (human)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Homo sapiens (human)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Homo sapiens (human)

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Last updated: August 19, 2024