GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 6651 - 6675 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0110191
  • Charcot-Marie-Tooth disease type 4B1
  • Aliases:
    • CMT4B1
    • Charcot-Marie-Tooth neuropathy type 4B1
    • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
Homo sapiens (human)
DOID:10595
  • Charcot-Marie-Tooth disease
  • Aliases:
    • CMT - Charcot-Marie-Tooth disease
Homo sapiens (human)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Homo sapiens (human)
DOID:0060600
  • obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
Homo sapiens (human)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Homo sapiens (human)
DOID:0060843
  • hereditary neuropathy with liability to pressure palsies
  • Aliases:
    • HNPP
    • current pressure-sensitive neuropathy
    • familial recurrent polyneuropathy
    • heterozygous microdeletion 17p11.2p12
    • potato-grubbing palsy
    • tomaculous neuropathy
    • tulip-bulb digger's palsy
Homo sapiens (human)
DOID:0090104
  • Huntington's disease-like 2
  • Aliases:
    • HDL2
    • Huntington disease-like 2
Homo sapiens (human)
DOID:0090103
  • Huntington's disease-like 1
  • Aliases:
    • HDL1
    • HLN1
    • Huntington disease-like 1
    • Huntington-like neurodegenerative disorder 1
    • autosomal dominant Huntington-like neurodegenerative disorder
    • early-onset prion disease with prominent psychiatric features
Homo sapiens (human)
DOID:12858
  • Huntington's disease
  • Aliases:
    • HD
    • Huntington disease
    • Huntington's chorea
Homo sapiens (human)
DOID:37
  • skin disease
  • Aliases:
    • Genodermatosis
    • skin and subcutaneous tissue disease
Homo sapiens (human)
DOID:0050585
  • congenital generalized lipodystrophy
Homo sapiens (human)
DOID:0060334
  • transient neonatal diabetes mellitus
Homo sapiens (human)
DOID:11717
  • neonatal diabetes
  • Aliases:
    • diabetes mellitus syndrome in newborn infant
    • neonatal diabetes mellitus
Homo sapiens (human)
DOID:0050440
  • familial partial lipodystrophy
  • Aliases:
    • Dunnigan Syndrome
    • Koberling-Dunnigan Syndrome
Homo sapiens (human)
DOID:0060689
  • atrichia with papular lesions
  • Aliases:
    • papular atrichia
Homo sapiens (human)
DOID:3138
  • acanthosis nigricans
  • Aliases:
    • keratosis nigricans
Homo sapiens (human)
DOID:0090122
  • aromatase excess syndrome
  • Aliases:
    • AEXS
    • familial hyperestrogenism
    • hereditary prepubertal gynecomastia
    • increased aromatase activity
Homo sapiens (human)
DOID:1064
  • cystinosis
  • Aliases:
    • cystine storage disease
Homo sapiens (human)
DOID:1062
  • Fanconi syndrome
  • Aliases:
    • Congenital Fanconi syndrome
    • De Toni-Fanconi syndrome
    • Fanconi-de Toni syndrome
    • Fanconi-de-Toni syndrome
    • Infantile nephropathic cystinosis
    • Lignac-Fanconi syndrome
    • adult Fanconi Anemia
    • adult Fanconi syndrome
    • deToni Fanconi syndrome
Homo sapiens (human)
DOID:420
  • hypertrichosis
Homo sapiens (human)
DOID:0050782
  • Zollinger-Ellison syndrome
Homo sapiens (human)
DOID:2018
  • hyperinsulinism
  • Aliases:
    • hyperinsulinemia
Homo sapiens (human)
DOID:0080326
  • familial hypertrophic cardiomyopathy
Homo sapiens (human)
DOID:580
  • uric acid nephrolithiasis
  • Aliases:
    • acute urate nephropathy
Homo sapiens (human)
DOID:585
  • nephrolithiasis
  • Aliases:
    • Stone - kidney/ureter
    • kidney stones
Homo sapiens (human)

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Last updated: August 19, 2024