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 3601 - 3625 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:5132
  • leiomyoma cutis
  • Aliases:
    • Cutaneous leiomyoma
    • leiomyoma of the skin
Homo sapiens (human)
DOID:11527
  • laryngostenosis
  • Aliases:
    • Stenosis of larynx
Homo sapiens (human)
DOID:1134
  • gingival recession
  • Aliases:
    • Gingival recession, localized
    • localized gingival recession
    • minimal gingival recession
    • moderate gingival recession
    • severe gingival recession
Homo sapiens (human)
DOID:0050541
  • Charcot-Marie-Tooth disease type 4
  • Aliases:
    • hereditary motor and sensory neuropathy
Homo sapiens (human)
DOID:0060202
  • amyotrophic lateral sclerosis type 11
  • Aliases:
    • ALS11
    • amyotrophic lateral sclerosis 11
Homo sapiens (human)
DOID:0080923
  • bilateral parasagittal parieto-occipital polymicrogyria
  • Aliases:
    • bilateral temporooccipital polymicrogyria
Homo sapiens (human)
DOID:0060589
  • Yunis-Varon syndrome
  • Aliases:
    • cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
    • cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Homo sapiens (human)
DOID:14766
  • renal agenesis
  • Aliases:
    • hereditary renal aplasia
    • hereditary urogenital adysplasia
    • renal adysplasia
    • renal aplasia
Homo sapiens (human)
DOID:0060305
  • megalocornea
  • Aliases:
    • anterior megalophthalmos
    • congenital anterior megalophthalmia
Homo sapiens (human)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Homo sapiens (human)
DOID:0112379
  • muscular dystrophy-dystroglycanopathy type B4
  • Aliases:
    • MDDGB4
    • congenital muscular dystrophy FKTN-related
Homo sapiens (human)
DOID:0050719
  • cerebral folate receptor alpha deficiency
  • Aliases:
    • Neurodegeneration due to cerebral folate transport deficiency
Homo sapiens (human)
DOID:0111405
  • Fraser syndrome 1
  • Aliases:
    • FRASRS1
Homo sapiens (human)
DOID:9307
  • rectal prolapse
  • Aliases:
    • Procidentia, rectum
Homo sapiens (human)
DOID:628
  • combined T cell and B cell immunodeficiency
  • Aliases:
    • Congenital Combined Immunodeficiency
Homo sapiens (human)
DOID:0060013
  • X-linked severe combined immunodeficiency
  • Aliases:
    • SCID-X1
    • XSCID
    • gamma chain deficiency
    • thymic epithelial hypoplasia
Homo sapiens (human)
DOID:0111083
  • Fanconi anemia complementation group D2
  • Aliases:
    • FA4
    • FAD2
    • FANCD2
    • Fanconi pancytopenia type 4
Homo sapiens (human)
DOID:10604
  • lactose intolerance
  • Aliases:
    • LM - Lactose malabsorption
Homo sapiens (human)
DOID:0060188
  • jejunoileitis
Homo sapiens (human)
DOID:0060191
  • gastroduodenal Crohn's disease
  • Aliases:
    • upper GI Crohn's disease
Homo sapiens (human)
DOID:5353
  • colonic disease
  • Aliases:
    • colon disorder
Homo sapiens (human)
DOID:611
  • obsolete leukocyte-adhesion deficiency syndrome
Homo sapiens (human)
DOID:13381
  • pernicious anemia
  • Aliases:
    • ANEMIA PERNICIOUS
    • Addison's anaemia
    • Biermer's anaemia
    • Biermer's anemia
    • pernicious anaemia
Homo sapiens (human)
DOID:2751
  • glycogen storage disease VIII
  • Aliases:
    • Glycogen storage disease 8
    • glycogen storage disease type VIII
    • glycogenosis type VIII
    • hepatic glycogen phosphorylase kinase deficiency
Homo sapiens (human)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Homo sapiens (human)

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Last updated: August 19, 2024