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 6251 - 6275 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:8161
  • thyroid gland Hurthle cell carcinoma
  • Aliases:
    • oncocytic carcinoma of the thyroid
Homo sapiens (human)
DOID:1035
  • aggressive NK-cell leukemia
  • Aliases:
    • aggressive NK-cell leukaemia
    • large granular Lymphocyte Leukemia, NK-cell type
    • natural killer cell leukaemia
    • natural killer cell leukemia
Homo sapiens (human)
DOID:0081352
  • congenital myopathy 20
Homo sapiens (human)
DOID:0110640
  • congenital muscular dystrophy due to LMNA mutation
  • Aliases:
    • L-CMD
    • LMNA-related congenital muscular dystrophy
    • congenital muscular dystrophy LMNA-related
Homo sapiens (human)
DOID:0070307
  • craniolenticulosutural dysplasia
  • Aliases:
    • Boyadjiev-Jabs Syndrome
    • cranio-lenticulo-sutural dysplasia, CLSD
Homo sapiens (human)
DOID:10772
  • thrombotic thrombocytopenic purpura
  • Aliases:
    • Moschcowitz's syndrome
Homo sapiens (human)
DOID:0060462
  • Desbuquois dysplasia
  • Aliases:
    • Desbuquois syndrome
    • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Homo sapiens (human)
DOID:0110424
  • dilated cardiomyopathy 1CC
  • Aliases:
    • CMD1CC
Homo sapiens (human)
DOID:0110431
  • dilated cardiomyopathy 1I
  • Aliases:
    • CMD1I
Homo sapiens (human)
DOID:2217
  • Bernard-Soulier syndrome
  • Aliases:
    • Bernard - Soulier thrombopathy
    • Bernard Soulier syndrome
    • Giant platelet syndrome
    • Hemorrhagic dystrophic thrombocytopenia
    • Thrombopathy, Bernard-Soulier
Homo sapiens (human)
DOID:0110607
  • primary ciliary dyskinesia 28
  • Aliases:
    • CILD28
    • primary ciliary dyskinesia 28 with or without situs inversus
Homo sapiens (human)
DOID:0110339
  • osteogenesis imperfecta type 3
  • Aliases:
    • OI3
    • osteogenesis imperfecta type III
    • progressively deforming osteogenesis imperfecta with normal sclera
Homo sapiens (human)
DOID:1098
  • fetal erythroblastosis
  • Aliases:
    • EF - Erythroblastosis foetalis
    • Haemolytic disease due to rhesus isoimmunisation
    • erythroblastosis fetalis
    • rhesus isoimmunisation of the newborn
Homo sapiens (human)
DOID:0080979
  • arthrogryposis multiplex congenita-3
Homo sapiens (human)
DOID:0110131
  • Bardet-Biedl syndrome 9
  • Aliases:
    • BBS9
Homo sapiens (human)
DOID:0080044
  • hypochondrogenesis
Homo sapiens (human)
DOID:0080553
  • congenital disorder of glycosylation Iaa
  • Aliases:
    • congenital disorder of glycosylation 1aa
Homo sapiens (human)
DOID:0080059
  • autosomal recessive spinocerebellar ataxia 7
  • Aliases:
    • SCAR7
Homo sapiens (human)
DOID:0111190
  • distal myopathy 4
  • Aliases:
    • MPD4
    • distal ABD-filaminopathy
    • distal muscular dystrophy 4
    • distal myopathy with posterior leg and anterior hand involvement
Homo sapiens (human)
DOID:0060786
  • hypomyelinating leukodystrophy
  • Aliases:
    • HLD
Homo sapiens (human)
DOID:10808
  • gastric ulcer
  • Aliases:
    • acute gastric ulcer with haemorrhage and perforation
    • acute gastric ulcer with hemorrhage AND with perforation but without obstruction
    • acute gastric ulcer with hemorrhage and obstruction
    • acute gastric ulcer with hemorrhage and perforation
    • acute gastric ulcer with hemorrhage and perforation, with obstruction
    • acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
    • acute gastric ulcer with hemorrhage, with obstruction
    • acute gastric ulcer with hemorrhage, with perforation AND with obstruction
    • acute gastric ulcer with perforation
    • acute gastric ulcer with perforation AND obstruction
    • acute gastric ulcer with perforation, with obstruction
    • acute gastric ulcer without hemorrhage and without perforation
    • acute gastric ulcer without hemorrhage, without perforation AND without obstruction
    • acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
    • bleeding acute gastric ulcer
    • chronic gastric ulcer without hemorrhage AND without perforation
    • chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
    • chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
Homo sapiens (human)
DOID:0111795
  • congenital nystagmus 6
  • Aliases:
    • NYS6
    • X-linked congenital nystagmus 6
Homo sapiens (human)
DOID:4752
  • multiple system atrophy
  • Aliases:
    • Shy-Drager syndrome
Homo sapiens (human)
DOID:9993
  • hypoglycemia
  • Aliases:
    • Hypoglycaemia
Homo sapiens (human)
DOID:0111649
  • ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
  • Aliases:
    • EEM syndrome
    • EEMS
    • ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
Homo sapiens (human)

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Last updated: December 9, 2024