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 1026 - 1050 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0060870
  • isolated growth hormone deficiency
  • Aliases:
    • IGHD
    • congenital IGHD
    • congenital isolated GH deficiency
    • congenital isolated growth hormone deficiency
    • familial isolated growth hormone deficiency
    • non-acquired isolated growth hormone deficiency
Homo sapiens (human)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Homo sapiens (human)
DOID:0111414
  • trichohepatoenteric syndrome
  • Aliases:
    • SD/THE
    • Syndromic diarrhea/Tricho-hepato-enteric syndrome
    • THES
    • Tricho-hepato-enteric syndrome
    • phenotypic diarrhea
    • syndromic diarrhea
Homo sapiens (human)
DOID:12639
  • pyloric stenosis
Homo sapiens (human)
DOID:12129
  • bulimia nervosa
  • Aliases:
    • hyperorexia nervosa
Homo sapiens (human)
DOID:585
  • nephrolithiasis
  • Aliases:
    • Stone - kidney/ureter
    • kidney stones
Homo sapiens (human)
DOID:580
  • uric acid nephrolithiasis
  • Aliases:
    • acute urate nephropathy
Homo sapiens (human)
DOID:0080326
  • familial hypertrophic cardiomyopathy
Homo sapiens (human)
DOID:2018
  • hyperinsulinism
  • Aliases:
    • hyperinsulinemia
Homo sapiens (human)
DOID:0050782
  • Zollinger-Ellison syndrome
Homo sapiens (human)
DOID:420
  • hypertrichosis
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:1064
  • cystinosis
  • Aliases:
    • cystine storage disease
Homo sapiens (human)
DOID:0090122
  • aromatase excess syndrome
  • Aliases:
    • AEXS
    • familial hyperestrogenism
    • hereditary prepubertal gynecomastia
    • increased aromatase activity
Homo sapiens (human)
DOID:3138
  • acanthosis nigricans
  • Aliases:
    • keratosis nigricans
Homo sapiens (human)
DOID:0060689
  • atrichia with papular lesions
  • Aliases:
    • papular atrichia
Homo sapiens (human)
DOID:0050440
  • familial partial lipodystrophy
  • Aliases:
    • Dunnigan Syndrome
    • Koberling-Dunnigan Syndrome
Homo sapiens (human)
DOID:11717
  • neonatal diabetes
  • Aliases:
    • diabetes mellitus syndrome in newborn infant
    • neonatal diabetes mellitus
Homo sapiens (human)
DOID:0060334
  • transient neonatal diabetes mellitus
Homo sapiens (human)
DOID:0050585
  • congenital generalized lipodystrophy
Homo sapiens (human)
DOID:37
  • skin disease
  • Aliases:
    • Genodermatosis
    • skin and subcutaneous tissue disease
Homo sapiens (human)
DOID:12858
  • Huntington's disease
  • Aliases:
    • HD
    • Huntington disease
    • Huntington's chorea
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: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)

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Last updated: August 19, 2024