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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 51 - 75 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0110823
  • hereditary spastic paraplegia 8
  • Aliases:
    • SPG8
    • autosomal dominant spastic paraplegia 8
    • autosomal dominant spastic paraplegia type 8
Homo sapiens (human)
DOID:0110443
  • dilated cardiomyopathy 1B
Homo sapiens (human)
DOID:0110065
  • amelogenesis imperfecta type 1F
  • Aliases:
    • AI1F
    • amelogenesis imperfecta hypoplastic type IF
    • amelogenesis imperfecta type IF
Homo sapiens (human)
DOID:0111726
  • geleophysic dysplasia 2
  • Aliases:
    • GPHYSD2
Homo sapiens (human)
DOID:0070480
  • schwannomatosis 1
  • Aliases:
    • SMARCB1-related schwannomatosis
    • SWN1
Homo sapiens (human)
DOID:0060574
  • von Willebrand's disease 2
  • Aliases:
    • VWD type 2
    • VWD2
    • von Willebrand disease type 2
    • von Willebrand disease type II
Mus musculus (house mouse)
DOID:11656
  • cicatricial pemphigoid
  • Aliases:
    • Cicatricial pemphigoid with ocular involvement
    • Ocular pemphigoid
    • benign mucous membrane pemphigoid
    • benign mucous membrane pemphigoid with ocular involvement
    • ocular pemphigus
Homo sapiens (human)
DOID:0060306
  • Meier-Gorlin syndrome
  • Aliases:
    • ear-patella-short stature syndrome
Mus musculus (house mouse)
DOID:2490
  • congenital nervous system abnormality
  • Aliases:
    • congenital neurologic anomaly
Mus musculus (house mouse)
DOID:0060292
  • X-linked chondrodysplasia punctata 1
  • Aliases:
    • chondrodystrophia calcificans congenita
Mus musculus (house mouse)
DOID:0060257
  • dyschromatosis symmetrica hereditaria
  • Aliases:
    • reticulate acropigmentation of Dohi
Homo sapiens (human)
DOID:0110083
  • arrhythmogenic right ventricular dysplasia 12
  • Aliases:
    • ARVC12
    • ARVD12
    • arrhythmogenic right ventricular cardiomyopathy 12
    • familial arrhythmogenic right ventricular dysplasia 12
Mus musculus (house mouse)
DOID:1074
  • kidney failure
  • Aliases:
    • renal failure
Rattus norvegicus (Norway rat)
DOID:3261
  • hyper IgE recurrent infection syndrome 1
  • Aliases:
    • Job syndrome
    • Job's syndrome
    • STAT3 Hyper IgE syndrome
    • hyperimmunoglobulin E syndrome
Homo sapiens (human)
DOID:8398
  • osteoarthritis
  • Aliases:
    • Osteoarthrosis and allied disorder
    • degenerative arthritis
    • degenerative joint disease
    • hypertrophic arthritis
    • osteoarthrosis
Rattus norvegicus (Norway rat)
DOID:0050723
  • PSAT deficiency
  • Aliases:
    • Phosphoserine aminotransferase deficiency
Homo sapiens (human)
DOID:0050989
  • episodic ataxia type 1
Mus musculus (house mouse)
DOID:0060174
  • GABA aminotransferase deficiency
  • Aliases:
    • Gamma-amino butyric acid transaminase deficiency
    • gamma-aminobutyric acid transaminase deficiency
Homo sapiens (human)
DOID:3892
  • insulinoma
  • Aliases:
    • Insulin-Producing tumor of Islet cells
    • Islet cell adenoma
Homo sapiens (human)
DOID:0080444
  • developmental and epileptic encephalopathy 27
  • Aliases:
    • DEE27
    • early infantile epileptic encephalopathy 27
Homo sapiens (human)
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Drosophila melanogaster (fruit fly)
DOID:11830
  • myopia
  • Aliases:
    • near vision
    • near-sightedness
    • short-sightedness
Homo sapiens (human)
DOID:0111969
  • immunodeficiency 39
  • Aliases:
    • IMD39
Homo sapiens (human)
DOID:0070370
  • restrictive dermopathy 2
Homo sapiens (human)
DOID:0080985
  • syndromic X-linked intellectual disorder Lujan-Fryns-type
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: April 7, 2025