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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 12401 - 12425 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0070038
  • autosomal dominant intellectual developmental disorder 8
  • Aliases:
    • MRD8
    • autosomal dominant mental retardation 8
    • autosomal dominant non-syndromic intellectual disability 8
Homo sapiens (human)
DOID:0080329
  • cold-induced sweating syndrome 1
Homo sapiens (human)
DOID:0110918
  • hereditary spherocytosis type 3
  • Aliases:
    • HS3
    • SPH3
    • hereditary spherocytosis 3
Homo sapiens (human)
DOID:0050905
  • inflammatory myofibroblastic tumor
Homo sapiens (human)
DOID:4724
  • brain edema
  • Aliases:
    • intracranial swelling
    • wet brain
Homo sapiens (human)
DOID:0111062
  • familial hypobetalipoproteinemia 1
  • Aliases:
    • FHBL1
Homo sapiens (human)
DOID:0070216
  • familial hyperinsulinemic hypoglycemia 3
  • Aliases:
    • HHF3
    • hyperinsulinemic hypoglycemia due to glucokinase deficiency
    • hyperinsulinism due to glucokinase deficiency
Homo sapiens (human)
DOID:1657
  • ventricular septal defect
  • Aliases:
    • Interventricular septal defect
    • Ventricular septal abnormality
Homo sapiens (human)
DOID:3840
  • craniopharyngioma
  • Aliases:
    • neoplasm of Rathke's Pouch
Homo sapiens (human)
DOID:1222
  • cartilage disease
  • Aliases:
    • Cartilage disorder
    • Chondropathy
Homo sapiens (human)
DOID:1949
  • cholecystitis
  • Aliases:
    • acute and chronic cholecystitis
    • acute cholecystitis
    • acute on chronic cholecystitis
    • chronic cholecystitis
Homo sapiens (human)
DOID:14261
  • fragile X syndrome
  • Aliases:
    • FRAGILE X MENTAL RETARDATION SYNDROME
    • MARKER X SYNDROME
    • MARTIN-BELL SYNDROME
Homo sapiens (human)
DOID:0111196
  • X-linked distal spinal muscular atrophy 3
  • Aliases:
    • ATP7A-related distal motor neuropathy
    • DSMAX
    • SMAX3
    • X-linked dHMN3
    • X-linked dSMA3
    • X-linked distal hereditary motor neuropathy type 3
    • X-linked recessive distal spinal muscular atrophy
Homo sapiens (human)
DOID:0111496
  • combined oxidative phosphorylation deficiency 17
  • Aliases:
    • COXPD17
Homo sapiens (human)
DOID:12120
  • pulmonary alveolar proteinosis
Homo sapiens (human)
DOID:10325
  • silicosis
  • Aliases:
    • Pneumoconiosis due to silicates
    • Silica pneumoconiosis
    • Silicotic fibrosis of lung
    • silicotuberculosis
Homo sapiens (human)
DOID:0080218
  • primary spontaneous pneumothorax
Homo sapiens (human)
DOID:10952
  • nephritis
Homo sapiens (human)
DOID:0070471
  • early-onset epilepsy 2
  • Aliases:
    • EPEO2
Homo sapiens (human)
DOID:0110749
  • type 1 diabetes mellitus 10
  • Aliases:
    • IDDM10
    • Insulin-Dependent Diabetes Mellitus 10
Homo sapiens (human)
DOID:0110659
  • congenital myasthenic syndrome 7
  • Aliases:
    • CMS7
    • congenital myasthenic syndrome 7 presynaptic
Homo sapiens (human)
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Homo sapiens (human)
DOID:11830
  • myopia
  • Aliases:
    • near vision
    • near-sightedness
    • short-sightedness
Homo sapiens (human)
DOID:0112383
  • KINSSHIP syndrome
  • Aliases:
    • AFF3-related mesomelic dysplasia
    • KINS
    • Steichen-Gersdorf type mesomelic dysplasia
Homo sapiens (human)
DOID:0111538
  • paramyotonia congenita of Von Eulenburg
  • Aliases:
    • Eulenburg disease
    • PMC
    • Von Eulenburg paramyotonia congenita
    • myotonia congenita intermittens
    • paralysis periodica paramyotonica
    • paramyotonia congenita
Homo sapiens (human)

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Last updated: December 9, 2024