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 11901 - 11925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0112029
  • non-syndromic X-linked intellectual disability 50
  • Aliases:
    • MRX50
    • X-linked intellectual developmental disorder 50
    • X-linked mental retardation 50
    • XLID50
Drosophila melanogaster (fruit fly)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Drosophila melanogaster (fruit fly)
DOID:3413
  • alpha-mannosidosis
  • Aliases:
    • Alpha-D-mannosidosis
    • alpha-mannosidase deficiency
    • deficiency of alpha-mannosidase
Homo sapiens (human)
DOID:3633
  • beta-mannosidosis
  • Aliases:
    • Beta-D-mannosidosis
    • beta-mannosidase deficiency
    • lysosomal beta-mannosidase deficiency
Homo sapiens (human)
DOID:0060693
  • Brunner Syndrome
  • Aliases:
    • monoamine oxidase A deficiency
Homo sapiens (human)
DOID:0111021
  • cone-rod dystrophy 15
  • Aliases:
    • CORD15
Drosophila melanogaster (fruit fly)
DOID:0070454
  • hereditary spastic paraplegia 70
  • Aliases:
    • SPG70
    • autosomal recessive spastic paraplegia 70
Homo sapiens (human)
DOID:0110173
  • Charcot-Marie-Tooth disease axonal type 2U
  • Aliases:
    • CMT2U
    • Charcot-Marie-Tooth neuropathy type 2U
    • autosomal dominant Charcot-Marie-Tooth disease type 2U
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
Homo sapiens (human)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Drosophila melanogaster (fruit fly)
DOID:0110831
  • Usher syndrome type 1D
  • Aliases:
    • USH1D
    • Usher syndrome type ID
Drosophila melanogaster (fruit fly)
DOID:0110467
  • autosomal recessive nonsyndromic deafness 12
  • Aliases:
    • DFNB12
    • autosomal recessive deafness 12
Drosophila melanogaster (fruit fly)
DOID:0112008
  • pituitary adenoma 5
  • Aliases:
    • PITA5
    • pituitary adenoma 5, multiple types
Drosophila melanogaster (fruit fly)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Xenopus laevis (African clawed frog)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Xenopus laevis (African clawed frog)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Xenopus laevis (African clawed frog)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Xenopus laevis (African clawed frog)
DOID:9277
  • primary cerebellar degeneration
Xenopus laevis (African clawed frog)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Xenopus laevis (African clawed frog)
DOID:0070299
  • multiple epiphyseal dysplasia 5
  • Aliases:
    • BHMED
    • EDM5
    • bilateral hereditary microepiphyseal dysplasia
    • multiple epiphyseal dysplasia MATN3-related
Homo sapiens (human)
DOID:0110290
  • autosomal recessive limb-girdle muscular dystrophy type 2X
  • Aliases:
    • LGMD2X
    • muscular dystrophy, limb-girdle, type 2X
Danio rerio (zebrafish)
DOID:0112159
  • autosomal dominant nonsyndromic deafness 78
  • Aliases:
    • DFNA78
Danio rerio (zebrafish)
DOID:0080558
  • congenital disorder of glycosylation If
  • Aliases:
    • congenital disorder of glycosylation 1f
Danio rerio (zebrafish)
DOID:4972
  • myelodysplastic/myeloproliferative neoplasm
  • Aliases:
    • Myeloproliferative/Myelodysplastic syndromes
    • myelodysplastic myeloproliferative cancer
Drosophila melanogaster (fruit fly)
DOID:0080576
  • spondyloepimetaphyseal dysplasia, Genevieve-type
Drosophila melanogaster (fruit fly)
DOID:12375
  • bronchopneumonia
  • Aliases:
    • Chest infection - bronchopneumonia
    • bronchial pneumonia
    • lobular pneumonia
Homo sapiens (human)

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Last updated: December 9, 2024