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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 2876 - 2900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Danio rerio (zebrafish)
DOID:13258
  • typhoid fever
  • Aliases:
    • Typhoid
Danio rerio (zebrafish)
DOID:693
  • dental enamel hypoplasia
  • Aliases:
    • enamel hypoplasia
Danio rerio (zebrafish)
DOID:0111864
  • autosomal recessive congenital bilateral absence of vas deferens
Danio rerio (zebrafish)
DOID:0050127
  • sinusitis
Danio rerio (zebrafish)
DOID:9563
  • bronchiectasis
  • Aliases:
    • Polynesian bronchiectasis
Danio rerio (zebrafish)
DOID:13316
  • exocrine pancreatic insufficiency
  • Aliases:
    • EPI
Danio rerio (zebrafish)
DOID:13580
  • cholestasis
  • Aliases:
    • Obstruction of bile duct
    • bile occlusion
Danio rerio (zebrafish)
DOID:4079
  • heart valve disease
  • Aliases:
    • Valvular heart disease
Danio rerio (zebrafish)
DOID:0080975
  • intracranial berry aneurysm 12
Homo sapiens (human)
DOID:0080231
  • autosomal dominant intellectual developmental disorder 52
  • Aliases:
    • autosomal dominant mental retardation 52
Homo sapiens (human)
DOID:0110777
  • hereditary spastic paraplegia 26
  • Aliases:
    • GM2 synthase deficiency
    • SPG26
    • autosomal recessive spastic paraplegia 26
    • autosomal recessive spastic paraplegia type 26
Danio rerio (zebrafish)
DOID:0070263
  • congenital disorder of glycosylation type IIk
  • Aliases:
    • CDG IIk
    • CDG syndrome type IIk
    • CDG2K
    • CDGIIdk
    • Carbohydrate deficient glycoprotein syndrome type IIk
    • Congenital disorder of glycosylation type 2k
    • TMEM165-CDG
Homo sapiens (human)
DOID:0060796
  • hypomyelinating leukodystrophy 12
  • Aliases:
    • HLD12
Homo sapiens (human)
DOID:0060939
  • dystonia 32
  • Aliases:
    • DYT32
Homo sapiens (human)
DOID:0111637
  • autosomal recessive nonsyndromic deafness 112
  • Aliases:
    • DFNB112
    • autosomal recessive deafness 112
Homo sapiens (human)
DOID:0110224
  • Brugada syndrome 7
  • Aliases:
    • BRGDA7
Homo sapiens (human)
DOID:0060917
  • facioscapulohumeral muscular dystrophy 3
  • Aliases:
    • FSHD3
    • facioscapulohumeral muscular dystrophy type 3
Homo sapiens (human)
DOID:0050717
  • methylmalonic aciduria and homocystinuria type cblF
  • Aliases:
    • Cobalamin F deficiency
    • MAHCF
Homo sapiens (human)
DOID:0112022
  • non-syndromic X-linked intellectual disability 21
  • Aliases:
    • MRX21
    • MRX34
    • X-linked mental retardation 21
    • X-linked mental retardation 21/34
    • X-linked mental retardation 34
Danio rerio (zebrafish)
DOID:3774
  • chordoid glioma
  • Aliases:
    • Chordoid glioma of 3rd Ventricle
    • Chordoid glioma of third ventricle
    • third ventricle chordoid glioma
Homo sapiens (human)
DOID:0070166
  • spermatogenic failure 20
  • Aliases:
    • SPGF20
Homo sapiens (human)
DOID:0070031
  • autosomal dominant intellectual developmental disorder 1
  • Aliases:
    • MRD1
    • autosomal dominant mental retardation 1
    • autosomal dominant non-syndromic intellectual disability 1
Homo sapiens (human)
DOID:0090115
  • spinocerebellar ataxia with axonal neuropathy 1
  • Aliases:
    • SCAN1
    • autosomal recessive spinocerebellar ataxia with axonal neuropathy 1
    • spinocerebellar ataxia with axonal neuropathy type 1
Homo sapiens (human)
DOID:0060728
  • NGLY1-deficiency
  • Aliases:
    • NGLY1-CDDG
    • congenital disorder of deglycosylation
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 1
Homo sapiens (human)
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Last updated: December 9, 2024