GlyCosmos Diseases

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

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 10501 - 10525 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0050430
  • multiple endocrine neoplasia type 2A
  • Aliases:
    • MEN2A
    • Sipple syndrome
    • multiple endocrine neoplasia II
Homo sapiens (human)
DOID:0080204
  • renal hypoplasia
Homo sapiens (human)
DOID:10016
  • multiple endocrine neoplasia type 2B
  • Aliases:
    • MEN type IIB
    • MEN2B
    • Multiple endocrine neoplasia, type 3
    • Wagenmann-Froboese syndrome
    • mucosal neuroma syndrome
Homo sapiens (human)
DOID:0070150
  • hereditary sensory and autonomic neuropathy type 2B
  • Aliases:
    • HSAN2B
    • hereditary sensory and autonomic neuropathy type IIB
Homo sapiens (human)
DOID:0080566
  • congenital disorder of glycosylation In
  • Aliases:
    • congenital disorder of glycosylation 1n
Saccharomyces cerevisiae S288C
DOID:0080566
  • congenital disorder of glycosylation In
  • Aliases:
    • congenital disorder of glycosylation 1n
Homo sapiens (human)
DOID:0110394
  • retinitis pigmentosa 44
  • Aliases:
    • RP44
Homo sapiens (human)
DOID:12528
  • lesion of sciatic nerve
Homo sapiens (human)
DOID:0111562
  • overhydrated hereditary stomatocytosis
  • Aliases:
    • OHS
    • potassium sodium disorder of erythrocyte
    • stomatocytosisIOHST
Homo sapiens (human)
DOID:0050641
  • Rh deficiency syndrome
Homo sapiens (human)
DOID:0111506
  • palmoplantar keratoderma-esophageal carcinoma syndrome
  • Aliases:
    • Bennion-Patterson syndrome
    • Howell-Evans syndrome
    • TOC
    • keratosis palmaris et plantaris with esophageal cancer
    • keratosis palmoplantaris-esophageal carcinoma syndrome
    • palmoplantar hyperkeratosis-esophageal carcinoma syndrome
    • palmoplantar keratoderma with esophageal cancer
    • tylosis with esophageal cancer
    • tylosis-oesophageal carcinoma syndrome
Homo sapiens (human)
DOID:0110862
  • congenital stationary night blindness autosomal dominant 1
  • Aliases:
    • CSNBAD1
    • rhodopsin-related congenital stationary night blindness
Homo sapiens (human)
DOID:0110372
  • retinitis pigmentosa 4
  • Aliases:
    • RP4
Homo sapiens (human)
DOID:2377
  • multiple sclerosis
  • Aliases:
    • Generalized multiple sclerosis
    • insular sclerosis
Saccharomyces cerevisiae S288C
DOID:10976
  • membranous glomerulonephritis
  • Aliases:
    • membranous nephropathy
Saccharomyces cerevisiae S288C
DOID:9408
  • acute myocardial infarction
Saccharomyces cerevisiae S288C
DOID:0080377
  • peroxisomal biogenesis disorder
Saccharomyces cerevisiae S288C
DOID:0050665
  • fetal alcohol syndrome
Saccharomyces cerevisiae S288C
DOID:0080377
  • peroxisomal biogenesis disorder
Homo sapiens (human)
DOID:0050665
  • fetal alcohol syndrome
Homo sapiens (human)
DOID:0111403
  • mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
  • Aliases:
    • MCCCHCM
Saccharomyces cerevisiae S288C
DOID:0070394
  • developmental and epileptic encephalopathy 108
  • Aliases:
    • DEE108
    • early infantile epileptic encephalopathy 108
Saccharomyces cerevisiae S288C
DOID:0070416
  • Luo-Schoch-Yamamoto syndrome
  • Aliases:
    • LUSYAM
Homo sapiens (human)
DOID:0111952
  • immunodeficiency 57
  • Aliases:
    • IMD57
    • immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
    • immunodeficiency 57 with autoinflammation
Homo sapiens (human)
DOID:0110551
  • autosomal dominant nonsyndromic deafness 21
  • Aliases:
    • DFNA21
    • autosomal dominant deafness 21
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024