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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 526 - 550 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060275
  • pontocerebellar hypoplasia type 6
Homo sapiens (human)
DOID:0060276
  • pontocerebellar hypoplasia type 7
Homo sapiens (human)
DOID:0060278
  • pontocerebellar hypoplasia type 9
Homo sapiens (human)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Homo sapiens (human)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Saccharomyces cerevisiae S288C
DOID:0060285
  • parietal foramina
  • Aliases:
    • Caitlin marks
    • enlarged parietal foramina
    • hereditary cranium bifidum
Homo sapiens (human)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Homo sapiens (human)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Mus musculus (house mouse)
DOID:0060287
  • cornea plana
  • Aliases:
    • flat cornea
Mus musculus (house mouse)
DOID:0060287
  • cornea plana
  • Aliases:
    • flat cornea
Homo sapiens (human)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Homo sapiens (human)
DOID:0060291
  • oculodentodigital dysplasia
  • Aliases:
    • ODD syndrome
Mus musculus (house mouse)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Mus musculus (house mouse)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Homo sapiens (human)
DOID:0060295
  • complement component 2 deficiency
Homo sapiens (human)
DOID:0060296
  • congenital secretory chloride diarrhea 1
  • Aliases:
    • congenital chloride diarrhea finnish type
    • congenital chloride diarrhoea finnish type
    • congenital chloridorrhea
    • congenital secretory chloride diarrhoea 1
Homo sapiens (human)
DOID:0060296
  • congenital secretory chloride diarrhea 1
  • Aliases:
    • congenital chloride diarrhea finnish type
    • congenital chloride diarrhoea finnish type
    • congenital chloridorrhea
    • congenital secretory chloride diarrhoea 1
Mus musculus (house mouse)
DOID:0060297
  • complement component 4a deficiency
Homo sapiens (human)
DOID:0060298
  • complement component 4b deficiency
Homo sapiens (human)
DOID:0060299
  • complement component 6 deficiency
Homo sapiens (human)
DOID:0060300
  • complement component 7 deficiency
Homo sapiens (human)
DOID:0060301
  • type I complement component 8 deficiency
Homo sapiens (human)
DOID:0060302
  • type II complement component 8 deficiency
Homo sapiens (human)
DOID:0060303
  • complement component 9 deficiency
Homo sapiens (human)
DOID:0060304
  • dyschromatosis universalis hereditaria
Homo sapiens (human)
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Last updated: December 8, 2025