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 1126 - 1150 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0060302
  • type II complement component 8 deficiency
Homo sapiens (human)
DOID:0110240
  • cataract 20 multiple types
  • Aliases:
    • CTRCT20
Homo sapiens (human)
DOID:0110843
  • xeroderma pigmentosum group A
  • Aliases:
    • XP group A
    • XP1
    • XPA
    • xeroderma pigmentosum 1
    • xeroderma pigmentosum complementation group A
Homo sapiens (human)
DOID:0111152
  • multicentric Castleman disease
  • Aliases:
    • MCD
    • PMCD
    • multicentric giant lymph node hyperplasia
    • plasmablastic multicentric Castleman disease
Homo sapiens (human)
DOID:0110547
  • autosomal dominant nonsyndromic deafness 16
  • Aliases:
    • DFNA16
    • autosomal dominant deafness 16
Homo sapiens (human)
DOID:12185
  • otosclerosis
Homo sapiens (human)
DOID:1969
  • cerebral palsy
  • Aliases:
    • infantile cerebral palsy
Homo sapiens (human)
DOID:0060119
  • pharynx cancer
  • Aliases:
    • pharyngeal neoplasm
    • pharynx neoplasm
Homo sapiens (human)
DOID:0050797
  • peroxisomal acyl-CoA oxidase deficiency
  • Aliases:
    • Peroxisomal acyl-coenzyme A oxidase
Homo sapiens (human)
DOID:0112303
  • spondylometaphyseal dysplasia with corneal dystrophy
  • Aliases:
    • SMDCD
Homo sapiens (human)
DOID:2914
  • immune system disease
Homo sapiens (human)
DOID:456
  • ascariasis
  • Aliases:
    • Ascariasis - roundworm
Homo sapiens (human)
DOID:11840
  • coronary artery vasospasm
  • Aliases:
    • Coronary Vasospasm
    • Coronary artery spasm
Homo sapiens (human)
DOID:0080089
  • tubular aggregate myopathy 1
Homo sapiens (human)
DOID:0110540
  • autosomal recessive nonsyndromic deafness 98
  • Aliases:
    • DFNB98
    • autosomal recessive deafness 98
Homo sapiens (human)
DOID:5728
  • diffuse peritoneal leiomyomatosis
  • Aliases:
    • leiomyomatosis peritonealis disseminata
Homo sapiens (human)
DOID:0111040
  • glycogen storage disease IXd
  • Aliases:
    • GSD IXd
    • GSD due to muscle phosphorylase kinase deficiency
    • GSD type 9D
    • GSD type 9E
    • GSD type IXd
    • GSD type IXe
    • GSD9D
    • X-linked muscke glycogenosis
    • glycogen storage disease due to muscle phosphorylase kinase deficiency
    • glycogen storage disease type 9D
    • glycogen storage disease type 9E
    • glycogen storage disease type IXd
    • glycogen storage disease type IXe
    • glycogenosis due to muscle phosphorylase kinase deficiency
    • glycogenosis type 9D
    • glycogenosis type 9E
    • glycogenosis type IXd
    • glycogenosis type IXe
    • muscle phosphorylase kinase deficiency
Homo sapiens (human)
DOID:0080217
  • lysosomal acid lipase deficiency
  • Aliases:
    • LAL deficiency
    • LAL-D
Homo sapiens (human)
DOID:0111248
  • cerebrocostomandibular syndrome
  • Aliases:
    • CCM syndrome
    • CCMS
    • cerebro-costo-mandibular syndrome
    • rib gap defects with micrognathia
Homo sapiens (human)
DOID:786
  • laryngeal disease
Homo sapiens (human)
DOID:5692
  • cellular myxoid liposarcoma
  • Aliases:
    • Round cell liposarcoma
Homo sapiens (human)
DOID:11577
  • Cauda equina syndrome
Homo sapiens (human)
DOID:3012
  • Li-Fraumeni syndrome
  • Aliases:
    • LFS
    • Li-Fraumeni Familiar cancer Susceptibility syndrome
    • SBLA syndrome
    • sarcoma, breast, leukaemia and adrenal gland syndrome
Homo sapiens (human)
DOID:3322
  • GM1 gangliosidosis
  • Aliases:
    • Beta-galactosidase deficiency
    • deficiency of beta-galactosidase
    • gangliosidosis GM1
Homo sapiens (human)
DOID:1800
  • neuroendocrine carcinoma
Homo sapiens (human)

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Last updated: August 19, 2024