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 13701 - 13725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0111130
  • focal segmental glomerulosclerosis 5
  • Aliases:
    • FSGS5
Homo sapiens (human)
DOID:0110279
  • autosomal recessive limb-girdle muscular dystrophy type 2E
  • Aliases:
    • Beta-sarcoglycanopathy
    • LGMD2E
    • Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
    • muscular dystrophy, limb-girdle, type 2E
Homo sapiens (human)
DOID:0110280
  • autosomal recessive limb-girdle muscular dystrophy type 2F
  • Aliases:
    • LGMD2F
    • delta-sarcoglycanopathy
    • limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Homo sapiens (human)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Rattus norvegicus (Norway rat)
DOID:0080414
  • developmental and epileptic encephalopathy 15
  • Aliases:
    • DEE15
    • early infantile epileptic encephalopathy 15
Rattus norvegicus (Norway rat)
DOID:0110277
  • autosomal recessive limb-girdle muscular dystrophy type 2C
  • Aliases:
    • DMDA1
    • LGMD2C
    • Maghrebian myopathy
    • SCARMD
    • autosomal recessive Duchenne-like muscular dystrophy type 1
    • deficiency of sarcoglycan gamma
    • gamma-sarcoglycanopathy
    • limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
    • muscular dystrophy, limb-girdle, type 2C
    • severe childhood autosomal recessive muscular dystrophy North African type
Homo sapiens (human)
DOID:3087
  • gingivitis
  • Aliases:
    • acute gingivitis
    • chronic gingivitis
Rattus norvegicus (Norway rat)
DOID:971
  • tendinitis
Rattus norvegicus (Norway rat)
DOID:0080845
  • omodysplasia 2
Rattus norvegicus (Norway rat)
DOID:1856
  • cherubism
Homo sapiens (human)
DOID:9432
  • renal glycosuria
  • Aliases:
    • renal diabetes
Rattus norvegicus (Norway rat)
DOID:0081144
  • common variable immunodeficiency 1
Rattus norvegicus (Norway rat)
DOID:0060025
  • immunoglobulin alpha deficiency
  • Aliases:
    • IgA deficiency
    • gamma-A-globulin deficiency
Rattus norvegicus (Norway rat)
DOID:0050535
  • exudative vitreoretinopathy
  • Aliases:
    • FEVR
    • familial exudative vitreoretinopathy
Rattus norvegicus (Norway rat)
DOID:0111412
  • exudative vitreoretinopathy 1
  • Aliases:
    • EVR1
Rattus norvegicus (Norway rat)
DOID:0060844
  • Norrie disease
  • Aliases:
    • Episkopi blindness
    • Norrie-Warburg disease
    • atrophia bulborum hereditaria
Rattus norvegicus (Norway rat)
DOID:0060937
  • dystonia 30
  • Aliases:
    • DYT30
Homo sapiens (human)
DOID:3669
  • intermittent claudication
  • Aliases:
    • Charcot's syndrome
Rattus norvegicus (Norway rat)
DOID:0050948
  • autosomal dominant hypophosphatemic rickets
Mus musculus (house mouse)
DOID:0110324
  • hypertrophic cardiomyopathy 18
  • Aliases:
    • CMH18
    • cardiomyopathy familial hypertrophic 18
Rattus norvegicus (Norway rat)
DOID:0110439
  • dilated cardiomyopathy 1P
  • Aliases:
    • CMD1P
Rattus norvegicus (Norway rat)
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Rattus norvegicus (Norway rat)
DOID:374
  • nutrition disease
  • Aliases:
    • Nutritional disorder
Rattus norvegicus (Norway rat)
DOID:0111948
  • immunodeficiency 46
  • Aliases:
    • CID due to TFRC deficiency
    • IMD46
    • TFRC-related combined immunodeficiency
    • combined immunodeficiency due to TFRC deficiency
Rattus norvegicus (Norway rat)
DOID:2732
  • Rothmund-Thomson syndrome
  • Aliases:
    • Congenital poikiloderma
    • RTS
Homo sapiens (human)

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Last updated: December 9, 2024