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 8401 - 8425 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0111274
  • CODAS syndrome
  • Aliases:
    • cerebral, ocular, dental, auricular, and skeletal syndrome
    • cerebro-oculo-dento-auriculo-skeletal syndrome
Homo sapiens (human)
DOID:0110525
  • autosomal recessive nonsyndromic deafness 77
  • Aliases:
    • DFNB77
    • autosomal recessive deafness 77
Homo sapiens (human)
DOID:0110705
  • hypotrichosis 8
  • Aliases:
    • Hypt8
    • Lah3
    • hypotrichosis, localized, autosomal recessive 3
Homo sapiens (human)
DOID:0080108
  • myoglobinuria
Homo sapiens (human)
DOID:0081151
  • common variable immunodeficiency 8
  • Aliases:
    • common variable immunodeficiency-8 (CVID8) with autoimmunity
Homo sapiens (human)
DOID:0060917
  • facioscapulohumeral muscular dystrophy 3
  • Aliases:
    • FSHD3
    • facioscapulohumeral muscular dystrophy type 3
Homo sapiens (human)
DOID:0110864
  • congenital stationary night blindness 1F
  • Aliases:
    • CSNB1F
    • congenital stationary night blindness 1F autosomal recessive
Homo sapiens (human)
DOID:1168
  • familial hyperlipidemia
  • Aliases:
    • familial hyperlipoproteinemia
    • hyperlipemia
Saccharomyces cerevisiae S288C
DOID:1391
  • Norum disease
  • Aliases:
    • LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
    • lecithin acyltransferase deficiency
Saccharomyces cerevisiae S288C
DOID:0080751
  • keratosis pilaris atrophicans
Homo sapiens (human)
DOID:0060327
  • omphalocele
  • Aliases:
    • omphalocoele
Homo sapiens (human)
DOID:0081297
  • oculopharyngodistal myopathy 1
Homo sapiens (human)
DOID:0081382
  • amyotrophic lateral sclerosis type 28
Homo sapiens (human)
DOID:0090144
  • Donnai-Barrow syndrome
  • Aliases:
    • DBS/FOAR syndrome
    • FOAR syndrome
    • Holmes-Schepens syndrome
    • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
    • diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • facio-oculo-acoustico-renal syndrome
    • faciooculoacousticorenal syndrome
    • syndrome of ocular and facial anomalies, telecanthus and deafness
Homo sapiens (human)
DOID:0110674
  • congenital myasthenic syndrome 17
  • Aliases:
    • CMS17
Homo sapiens (human)
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Homo sapiens (human)
DOID:0060757
  • sclerosteosis 2
  • Aliases:
    • SOST2
Homo sapiens (human)
DOID:0080037
  • Worth syndrome
  • Aliases:
    • Worth's syndrome
    • autosomal dominant endosteal hyperostosis
    • autosomal dominant osteosclerosis
    • benign form of Worth hyperostosis corticalis generalisata with torus platinus
Homo sapiens (human)
DOID:0111411
  • exudative vitreoretinopathy 4
  • Aliases:
    • EVR4
Homo sapiens (human)
DOID:0060849
  • osteoporosis-pseudoglioma syndrome
  • Aliases:
    • OPPG
    • ocular form of osteogenesis imperfecta
Homo sapiens (human)
DOID:0110937
  • autosomal dominant osteopetrosis 1
  • Aliases:
    • OPTA1
    • autosomal dominant osteopetrosis type 1
Homo sapiens (human)
DOID:12559
  • idiopathic juvenile osteoporosis
  • Aliases:
    • Idiopathic osteoporosis
    • juvenile osteoporosis
Homo sapiens (human)
DOID:3652
  • Leigh disease
  • Aliases:
    • Infantile necrotizing encephalomyelopathy
    • Leigh syndrome
    • juvenile subacute necrotizing encephalomyelopathy
Homo sapiens (human)
DOID:0111180
  • French Canadian Leigh disease
  • Aliases:
    • French Canadian type COX deficiency
    • French Canadian type Leigh syndrome
    • French Canadian type cytochrome c oxidase deficiency
    • Saguenay Lac saint Jean type COX deficiency
    • Saguenay Lac saint Jean type Leigh syndrome
    • mitochondrial complex IV deficiency nuclear type 5
Homo sapiens (human)
DOID:0111854
  • primary ciliary dyskinesia 39
  • Aliases:
    • CILD39
    • primary ciliary dyskinesia 39 with or without situs inversus
Homo sapiens (human)

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Last updated: December 9, 2024