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 1976 - 2000 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0112349
  • hereditary spastic paraplegia 81
  • Aliases:
    • SPG81
    • autosomal recessive complex SPG due to Kennedy pathway dysfunction
    • autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
    • spastic paraplegia 81 autosomal recessive
Homo sapiens (human)
DOID:3112
  • papillary adenocarcinoma
  • Aliases:
    • Infiltrating and papillary adenocarcinoma
    • infiltrating papillary adenocarcinoma
Homo sapiens (human)
DOID:6548
  • angiomatous meningioma
Homo sapiens (human)
DOID:5605
  • breast medullary carcinoma
  • Aliases:
    • Medullary breast carcinoma with lymphoid Stroma
Homo sapiens (human)
DOID:0111134
  • focal segmental glomerulosclerosis 9
  • Aliases:
    • FSGS9
Homo sapiens (human)
DOID:5998
  • microglandular adenosis
  • Aliases:
    • Adenosis - breast
    • Adenosis of the breast
Homo sapiens (human)
DOID:0080332
  • bicuspid aortic valve disease
  • Aliases:
    • Familial bicuspid aortic valve
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:65
  • connective tissue disease
  • Aliases:
    • connective tissue disorder
    • disorder of connective tissue
Homo sapiens (human)
DOID:2316
  • brain ischemia
  • Aliases:
    • Ischaemic encephalopathy
    • Ischemic encephalopathy
    • cerebral ischemia
Homo sapiens (human)
DOID:9267
  • urea cycle disorder
  • Aliases:
    • disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
    • disorder of urea cycle metabolism
    • urea cycle defect
Homo sapiens (human)
DOID:0110937
  • autosomal dominant osteopetrosis 1
  • Aliases:
    • OPTA1
    • autosomal dominant osteopetrosis type 1
Homo sapiens (human)
DOID:0110770
  • hereditary spastic paraplegia 17
  • Aliases:
    • SPG17
    • Silver spastic paraplegia syndrome
    • Silver syndrome
    • autosomal dominant spastic paraplegia 17
    • autosomal dominant spastic paraplegia type 17
    • dHMN5B
    • distal hereditary motor neuropathy type 5B
    • spastic paraplegia with amyotrophy of hands and feet
    • spastic paraplegia-amyotrophy of hands and feet
Homo sapiens (human)
DOID:6088
  • acute stress disorder
  • Aliases:
    • traumatic stress disorder
Homo sapiens (human)
DOID:3389
  • Papillon-Lefevre disease
  • Aliases:
    • Papillon Lefevre syndrome
    • Papillon-Lefvre syndrome
Homo sapiens (human)
DOID:3156
  • hypomelanosis of Ito
  • Aliases:
    • Bloch-Siemans syndrome
    • Incontinentia pigmenti achromians syndrome
    • Ito's nevus
    • incontinentia pigmenti achromians
    • nevus of Ito
Homo sapiens (human)
DOID:0080348
  • Alzheimer's disease 1
  • Aliases:
    • Alzheimer's disease 1, early onset
Homo sapiens (human)
DOID:0060451
  • Meesmann corneal dystrophy
  • Aliases:
    • MECD
    • Stocker-Holt dystrophy
    • juvenile hereditary epithelial dystrophy
Homo sapiens (human)
DOID:0060648
  • anterior segment dysgenesis
  • Aliases:
    • anterior segment developmental anomaly
    • corneal opacification and other ocular anomalies
    • sclerocornea with other ocular anomalies
Homo sapiens (human)
DOID:139
  • squamous cell papilloma
  • Aliases:
    • Epidermoid papilloma
Homo sapiens (human)
DOID:0050785
  • progressive relapsing multiple sclerosis
  • Aliases:
    • PRMS
    • Progressive-relapsing MS
Homo sapiens (human)
DOID:0110851
  • rhizomelic chondrodysplasia punctata type 1
  • Aliases:
    • Pbd9
    • Peroxisome Biogenesis Disorder 9
    • Rcdp1
Homo sapiens (human)
DOID:8282
  • adult epithelioid sarcoma
Homo sapiens (human)
DOID:10301
  • parotitis
Homo sapiens (human)
DOID:0080148
  • T-cell childhood lymphoblastic lymphoma
  • Aliases:
    • Childhood T lymphoblastic lymphoma
Homo sapiens (human)

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Last updated: August 19, 2024