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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 4226 - 4250 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0111664
  • ectodermal dysplasia 1
  • Aliases:
    • CST syndrome
    • Christ-Siemens-Touraine syndrome
    • ED1
    • HED1
    • X-linked anhidrotic ectodermal dysplasia
    • XHED
    • XLHED
    • ectodermal dysplasia 1, anhidrotic
    • ectodermal dysplasia 1, hypohidrotic, X-linked
    • ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
    • hypohidrotic ectodermal dysplasia, X-Linked
Homo sapiens (human)
DOID:0111310
  • familial febrile seizures 2
  • Aliases:
    • FEB2
    • familial febrile convulsions 2
Homo sapiens (human)
DOID:0070521
  • peeling skin syndrome 2
  • Aliases:
    • PSS2
Homo sapiens (human)
DOID:906
  • peroxisomal disease
  • Aliases:
    • peroxisomal disorder
Homo sapiens (human)
DOID:0050770
  • polycystic liver disease
  • Aliases:
    • congenital cystic liver disease
    • congenital hepatic cyst
    • fibrocystic liver disease
Homo sapiens (human)
DOID:0080860
  • primary ovarian insufficiency 3
Homo sapiens (human)
DOID:0060210
  • amyotrophic lateral sclerosis type 19
  • Aliases:
    • ALS19
    • amyotrophic lateral sclerosis 19
Homo sapiens (human)
DOID:14525
  • Reye syndrome
  • Aliases:
    • Reye's syndrome
Homo sapiens (human)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Homo sapiens (human)
DOID:9631
  • Pelger-Huet anomaly
Homo sapiens (human)
DOID:14261
  • fragile X syndrome
  • Aliases:
    • FRAGILE X MENTAL RETARDATION SYNDROME
    • MARKER X SYNDROME
    • MARTIN-BELL SYNDROME
Homo sapiens (human)
DOID:0070434
  • hyperphosphatasia with impaired intellectual development syndrome 2
  • Aliases:
    • GPIBD6
    • HPMRS2
    • glycosylphosphatidylinositol biosynthesis defect 6
    • hyperphosphatasia with mental retardation syndrome 2
Homo sapiens (human)
DOID:0110027
  • age related macular degeneration 15
  • Aliases:
    • ARMD15
Homo sapiens (human)
DOID:3343
  • glycoproteinosis
  • Aliases:
    • Mucolipidosis type I
    • sialidosis
Homo sapiens (human)
DOID:3210
  • Pelizaeus-Merzbacher disease
  • Aliases:
    • HLD1
    • Leukodystrophy, sudanophilic
    • PMD
    • Pelizaeus Merzbacher brain sclerosis
    • Pelizaeus-Merzbacher brain sclerosis
    • diffuse familial brain sclerosis
    • hypomyelinating leukodystrophy 1
    • sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Homo sapiens (human)
DOID:0060790
  • hypomyelinating leukodystrophy 3
  • Aliases:
    • HLD3
    • Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Homo sapiens (human)
DOID:0050718
  • vitamin metabolic disorder
Homo sapiens (human)
DOID:0080224
  • autosomal dominant dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:535
  • sleep disorder
  • Aliases:
    • Non-organic sleep disorder
Homo sapiens (human)
DOID:0110782
  • hereditary spastic paraplegia 31
  • Aliases:
    • SPG31
    • autosomal dominant spastic paraplegia 31
    • autosomal dominant spastic paraplegia type 31
Homo sapiens (human)
DOID:529
  • blepharospasm
Homo sapiens (human)
DOID:0110595
  • Stromme syndrome
  • Aliases:
    • CILD31
    • apple peel syndrome with microcephaly and ocular anomalies
    • jejunal atresia with microcephaly and ocular anomalies
    • lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
    • primary ciliary dyskinesia 31
Homo sapiens (human)
DOID:0110057
  • amelogenesis imperfecta type 2A1
  • Aliases:
    • AI2A1
    • amelogenesis imperfecta pigmented hypomaturation type 1
    • amelogenesis imperfecta type IIA1
Homo sapiens (human)
DOID:0111835
  • congenital nongoitrous hypothyroidism 9
  • Aliases:
    • CHNG9
Homo sapiens (human)
DOID:0111189
  • distal myopathy 3
  • Aliases:
    • MPD3
    • distal muscular dystrophy 3
    • distal myopathy type 3
Homo sapiens (human)
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Last updated: February 17, 2025