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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 4226 - 4250 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0112155
  • inflammatory bowel disease 29
  • Aliases:
    • IBD29
Homo sapiens (human)
DOID:0060728
  • congenital disorder of deglycosylation 1
  • Aliases:
    • NGLY1-CDDG
    • NGLY1-deficiency
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 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: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:0070166
  • spermatogenic failure 20
  • Aliases:
    • SPGF20
Homo sapiens (human)
DOID:3774
  • chordoid glioma
  • Aliases:
    • Chordoid glioma of 3rd Ventricle
    • Chordoid glioma of third ventricle
    • third ventricle chordoid glioma
Homo sapiens (human)
DOID:0050717
  • methylmalonic aciduria and homocystinuria type cblF
  • Aliases:
    • Cobalamin F deficiency
    • MAHCF
Homo sapiens (human)
DOID:0060917
  • facioscapulohumeral muscular dystrophy 3
  • Aliases:
    • FSHD3
    • facioscapulohumeral muscular dystrophy type 3
Homo sapiens (human)
DOID:0110224
  • Brugada syndrome 7
  • Aliases:
    • BRGDA7
Homo sapiens (human)
DOID:0111637
  • autosomal recessive nonsyndromic deafness 112
  • Aliases:
    • DFNB112
    • autosomal recessive deafness 112
Homo sapiens (human)
DOID:0060796
  • hypomyelinating leukodystrophy 12
  • Aliases:
    • HLD12
Homo sapiens (human)
DOID:0060939
  • dystonia 32
  • Aliases:
    • DYT32
Homo sapiens (human)
DOID:0070263
  • congenital disorder of glycosylation type IIk
  • Aliases:
    • CDG IIk
    • CDG syndrome type IIk
    • CDG2K
    • CDGIIk
    • Carbohydrate deficient glycoprotein syndrome type IIk
    • Congenital disorder of glycosylation type 2k
    • TMEM165-CDG
Homo sapiens (human)
DOID:0080231
  • autosomal dominant intellectual developmental disorder 52
  • Aliases:
    • autosomal dominant mental retardation 52
Homo sapiens (human)
DOID:0080975
  • intracranial berry aneurysm 12
Homo sapiens (human)
DOID:9351
  • diabetes mellitus
  • Aliases:
    • diabetes
Danio rerio (zebrafish)
DOID:1485
  • cystic fibrosis
  • Aliases:
    • CF
    • mucoviscidosis
Danio rerio (zebrafish)
DOID:0111961
  • immunodeficiency 26
  • Aliases:
    • IMD26
    • SCID due to DNA-PKcs deficiency
    • immunodeficiency 26, with or without neurologic abnormalities
    • severe combined immunodeficiency due to DNA-PKcs deficiency
Homo sapiens (human)
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Mus musculus (house mouse)
DOID:0081125
  • craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
Homo sapiens (human)
DOID:0110386
  • retinitis pigmentosa 42
  • Aliases:
    • RP42
Homo sapiens (human)
DOID:0080331
  • cold-induced sweating syndrome 3
Homo sapiens (human)
DOID:0050431
  • arrhythmogenic right ventricular cardiomyopathy
  • Aliases:
    • ARVC
    • ARVC cardiomyopathy
    • ARVD
    • arrhythmogenic right ventricular dysplasia
    • arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • right ventricular ACM
Danio rerio (zebrafish)
DOID:4906
  • small intestine adenocarcinoma
  • Aliases:
    • small intestinal adenocarcinoma
Homo sapiens (human)
DOID:4253
  • melorheostosis
Homo sapiens (human)
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Last updated: March 31, 2025