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 3676 - 3700 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0081168
  • HMG-CoA synthase 2 deficiency
  • Aliases:
    • 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
Homo sapiens (human)
DOID:180
  • ossifying fibroma
  • Aliases:
    • Fibro-osteoma
Homo sapiens (human)
DOID:1036
  • chronic leukemia
Homo sapiens (human)
DOID:653
  • purine-pyrimidine metabolic disorder
  • Aliases:
    • inborn errors of purine-pyrimidine metabolism
Homo sapiens (human)
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Homo sapiens (human)
DOID:3405
  • histiocytosis
  • Aliases:
    • Hand Schuller Christian disease
    • chronic Histiocytosis X
Homo sapiens (human)
DOID:13382
  • megaloblastic anemia
  • Aliases:
    • Grasbeck-Imerslund syndrome
    • Imerslund-Grasbeck syndrome
    • MGA1 Norwegian type
    • RH-MGA1
    • megaloblastic anaemia
    • recessive hereditary megaloblastic anaemia 1
    • recessive hereditary megaloblastic anemia 1
Homo sapiens (human)
DOID:0050681
  • Borjeson-Forssman-Lehmann syndrome
  • Aliases:
    • BFLS
    • BORJ
    • Borjeson syndrome
    • MRXSBFL
    • intellectual deficiency-epilepsy-endocrine disorders syndrome
    • mental retardation, epilepsy, and endocrine disorder
    • syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
Homo sapiens (human)
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Homo sapiens (human)
DOID:4085
  • trophoblastic neoplasm
  • Aliases:
    • Trophoblastic tumor
Homo sapiens (human)
DOID:4367
  • apparent mineralocorticoid excess syndrome
  • Aliases:
    • 11-beta-hydroxysteroid dehydrogenase deficiency type 2
    • Ulick syndrome
    • cortisol 11-beta-ketoreductase deficiency
    • syndrome of apparent mineralocorticoid excess
Homo sapiens (human)
DOID:5715
  • functionless pituitary adenoma
  • Aliases:
    • Non-Functioning neoplasm of the Pituitary
    • Non-Secretory adenoma of the Pituitary gland
Homo sapiens (human)
DOID:106
  • pleural tuberculosis
  • Aliases:
    • Pearly disease
    • Tuberculosis of pleura
    • Tuberculous pleurisy
    • Tuberculous pleuritis
    • tuberculous pleurisy in primary progressive tuberculosis
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)
DOID:0050696
  • fetal alcohol spectrum disorder
Homo sapiens (human)
DOID:2997
  • Sertoli-Leydig cell tumor
Homo sapiens (human)
DOID:0112248
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • Aliases:
    • 17-KSR deficiency
    • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • 17-ketoreductase deficiency
    • 17-ketosteroidreductase deficiency
    • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • male pseudohermaphroditism with gynecomastia
    • neutral 17-beta-hydroxysteroid oxidoreductase deficiency
Homo sapiens (human)
DOID:0050951
  • hereditary ataxia
Homo sapiens (human)
DOID:0050857
  • Perrault syndrome
Homo sapiens (human)
DOID:0112072
  • nuclear type mitochondrial complex I deficiency 20
  • Aliases:
    • ACAD9 deficiency
    • Acyl-CoA dehydrogenase 9 deficiency
    • MC1DN20
    • mitochondrial complex 1 deficiency due to ACAD9 deficiency
Homo sapiens (human)
DOID:12144
  • low compliance bladder
  • Aliases:
    • Low bladder compliance
    • hyperactivity of bladder
    • hypertonic bladder
    • hypertonicity of bladder
Homo sapiens (human)
DOID:13481
  • thanatophoric dysplasia
Homo sapiens (human)
DOID:0050788
  • proximal symphalangism
  • Aliases:
    • Cushing's symphalangism
Homo sapiens (human)
DOID:9159
  • gas gangrene
  • Aliases:
    • Gas bacillus infection
Homo sapiens (human)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Homo sapiens (human)

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Last updated: August 19, 2024