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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4301 - 4325 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080579
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency
Homo sapiens (human)
DOID:0080499
  • ovarian dysgenesis 7
Homo sapiens (human)
DOID:0111473
  • combined oxidative phosphorylation deficiency 5
  • Aliases:
    • COXPD5
    • hypotonia with lactic acidemia and hyperammonemia
Homo sapiens (human)
DOID:0060994
  • encephalopathy due to defective mitochondrial and peroxisomal fission 2
Homo sapiens (human)
DOID:2187
  • amelogenesis imperfecta
Homo sapiens (human)
DOID:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
Homo sapiens (human)
DOID:0070242
  • primary coenzyme Q10 deficiency 5
  • Aliases:
    • COQ10D5
    • coenzyme Q10 deficiency, primary, 5
    • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Homo sapiens (human)
DOID:0060565
  • Ritscher-Schinzel syndrome
  • Aliases:
    • CCC dysplasia
    • craniocerebellocardiac dysplasia
Homo sapiens (human)
DOID:0060275
  • pontocerebellar hypoplasia type 6
Homo sapiens (human)
DOID:0070291
  • primary autosomal recessive microcephaly 4
  • Aliases:
    • MCPH4
Homo sapiens (human)
DOID:0111308
  • familial febrile seizures 11
  • Aliases:
    • FEB11
    • familial febrile convulsions 11
Homo sapiens (human)
DOID:0060752
  • familial temporal lobe epilepsy 5
  • Aliases:
    • ETL5
Homo sapiens (human)
DOID:0080498
  • ovarian dysgenesis 6
Homo sapiens (human)
DOID:0080385
  • nephrotic syndrome type 11
Homo sapiens (human)
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Danio rerio (zebrafish)
DOID:9884
  • muscular dystrophy
Danio rerio (zebrafish)
DOID:0070456
  • hereditary spastic paraplegia 87
  • Aliases:
    • SPG87
    • autosomal recessive spastic paraplegia 87
Homo sapiens (human)
DOID:0070208
  • hereditary lymphedema IC
  • Aliases:
    • LMPH1C
Homo sapiens (human)
DOID:0110796
  • hereditary spastic paraplegia 44
  • Aliases:
    • SPG44
    • autosomal recessive spastic paraplegia 44
Homo sapiens (human)
DOID:0060787
  • hypomyelinating leukodystrophy 2
  • Aliases:
    • HLD2
    • PMLD1
    • Pelizaeus-Merzbacher-like disease 1
    • Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Homo sapiens (human)
DOID:4977
  • lymphedema
  • Aliases:
    • Lymphatic edema
    • Lymphoedema
Homo sapiens (human)
DOID:0111381
  • IVIC syndrome
  • Aliases:
    • Instituto Venezolano de Investigaciones Cientificas syndrome
    • OORS
    • Oculootoradial syndrome
    • oculo-oto-radial syndrome
    • radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Homo sapiens (human)
DOID:0060468
  • Holt-Oram syndrome
  • Aliases:
    • atrio-digital syndrome
    • atriodigital dysplasia
    • heart-hand syndrome
Homo sapiens (human)
DOID:0060747
  • Duane-radial ray syndrome
  • Aliases:
    • DR syndrome
    • Duane anomaly with radial ray abnormalities and deafness
    • Okihiro syndrome
    • acrorenocular syndrome
Homo sapiens (human)
DOID:12557
  • Duane retraction syndrome
  • Aliases:
    • Duane's syndrome
    • Stilling-Turk-Duane syndrome
Homo sapiens (human)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: March 31, 2025