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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 101 - 125 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0050540
  • Charcot-Marie-Tooth disease type 3
  • Aliases:
    • DEJERINE-SOTTAS NEUROPATHY
    • DEJERINE-SOTTAS SYNDROME
Mus musculus (house mouse)
DOID:0050545
  • visceral heterotaxy
  • Aliases:
    • heterotaxia
    • situs ambiguus
Mus musculus (house mouse)
DOID:0050545
  • visceral heterotaxy
  • Aliases:
    • heterotaxia
    • situs ambiguus
Homo sapiens (human)
DOID:0050546
  • congenital adrenal insufficiency
  • Aliases:
    • ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
    • Adrenal insufficiency, congenital, with 46,XY sex reversal
    • P450scc DEFICIENCY
Homo sapiens (human)
DOID:0050547
  • familial medullary thyroid carcinoma
  • Aliases:
    • THYROID CARCINOMA, FAMILIAL MEDULLARY
Mus musculus (house mouse)
DOID:0050547
  • familial medullary thyroid carcinoma
  • Aliases:
    • THYROID CARCINOMA, FAMILIAL MEDULLARY
Homo sapiens (human)
DOID:0050548
  • hereditary sensory neuropathy
  • Aliases:
    • familial dysautonomia, type II
    • hereditary sensory and autonomic neuropathy
Mus musculus (house mouse)
DOID:0050548
  • hereditary sensory neuropathy
  • Aliases:
    • familial dysautonomia, type II
    • hereditary sensory and autonomic neuropathy
Homo sapiens (human)
DOID:0050554
  • X-linked sideroblastic anemia with ataxia
  • Aliases:
    • Anemia sideroblastic and spinocerebellar ataxia
    • Anemia, sideroblastic, spinocerebellar ataxia
    • X-linked sideroblastic anaemia and ataxia
    • X-linked sideroblastic anaemia with ataxia
    • X-linked sideroblastic anemia and ataxia
Homo sapiens (human)
DOID:0050557
  • congenital muscular dystrophy
Mus musculus (house mouse)
DOID:0050558
  • Ullrich congenital muscular dystrophy
  • Aliases:
    • ULLRICH DISEASE
    • Ullrich scleroatonic muscular dystrophy
Mus musculus (house mouse)
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Mus musculus (house mouse)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Danio rerio (zebrafish)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Saccharomyces cerevisiae S288C
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Drosophila melanogaster (fruit fly)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Mus musculus (house mouse)
DOID:0050561
  • Lennox-Gastaut syndrome
  • Aliases:
    • Lennox syndrome
Mus musculus (house mouse)
DOID:0050562
  • West syndrome
Homo sapiens (human)
DOID:0050563
  • nonsyndromic deafness
  • Aliases:
    • nonsyndromic hearing loss
    • nonsyndromic hereditary hearing loss
Homo sapiens (human)
DOID:0050563
  • nonsyndromic deafness
  • Aliases:
    • nonsyndromic hearing loss
    • nonsyndromic hereditary hearing loss
Mus musculus (house mouse)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Homo sapiens (human)
DOID:0050567
  • orofacial cleft
Homo sapiens (human)
DOID:0050569
  • Seckel syndrome
  • Aliases:
    • Harper's syndrome
    • Virchow-Seckel dwarfism
    • bird-headed dwarfism
    • microcephalic primordial dwarfism
Homo sapiens (human)
DOID:0050570
  • congenital disorder of glycosylation type I
Mus musculus (house mouse)
DOID:0050570
  • congenital disorder of glycosylation type I
Danio rerio (zebrafish)

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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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: April 7, 2025