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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1476 - 1500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0112373
  • autosomal dominant auditory neuropathy 3
  • Aliases:
    • AUNA3
Homo sapiens (human)
DOID:0110074
  • arrhythmogenic right ventricular dysplasia 5
  • Aliases:
    • ARVC5
    • ARVD5
    • arrhythmogenic right ventricular cardiomyopathy 5
    • familial arrhythmogenic right ventricular dysplasia 5
Homo sapiens (human)
DOID:0070252
  • autosomal dominant Emery-Dreifuss muscular dystrophy 7
  • Aliases:
    • EDMD7
    • Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Homo sapiens (human)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Danio rerio (zebrafish)
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Danio rerio (zebrafish)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Danio rerio (zebrafish)
DOID:0080071
  • mucolipidosis III alpha/beta
  • Aliases:
    • mucolipidosis III
    • pseudo-Hurler polydystrophy
Homo sapiens (human)
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Homo sapiens (human)
DOID:0110786
  • hereditary spastic paraplegia 35
  • Aliases:
    • FAHN
    • SPG35
    • autosomal recessive spastic paraplegia 35
    • autosomal recessive spastic paraplegia type 35
    • fatty acid hydroxylase-associated neurodegeneration
    • leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia
Homo sapiens (human)
DOID:0060175
  • succinic semialdehyde dehydrogenase deficiency
  • Aliases:
    • 4-hydroxybutyric aciduria
    • SSADH
    • gamma-hydroxybutyric aciduria
Homo sapiens (human)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Homo sapiens (human)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Homo sapiens (human)
DOID:0110299
  • autosomal recessive limb-girdle muscular dystrophy type 2I
  • Aliases:
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
    • MDDGC5
    • muscular dystrophy limb-girdle type 2I
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
    • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Homo sapiens (human)
DOID:0081219
  • autosomal recessive intellectual developmental disorder 57
Homo sapiens (human)
DOID:0050419
  • complement factor I deficiency
  • Aliases:
    • C3 INACTIVATOR DEFICIENCY
    • COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
Rattus norvegicus (Norway rat)
DOID:0110025
  • age related macular degeneration 13
  • Aliases:
    • ARMD13
Rattus norvegicus (Norway rat)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Danio rerio (zebrafish)
DOID:12804
  • mucopolysaccharidosis IV
  • Aliases:
    • Mucopolysaccharidosis, MPS-IV
    • deficiency of N-acetylgalactosamine-6-sulphatase
    • deficiency of chondroitinsulphatase
    • galactosamine-6-sulfatase deficiency
Danio rerio (zebrafish)
DOID:0070004
  • myeloid neoplasm
Rattus norvegicus (Norway rat)
DOID:0111532
  • osteoglophonic dysplasia
  • Aliases:
    • Fairbank-Keats syndrome
    • OGD
    • osteoglophonic dwarfism
Rattus norvegicus (Norway rat)
DOID:0090083
  • hypogonadotropic hypogonadism 2 with or without anosmia
Rattus norvegicus (Norway rat)
DOID:0060597
  • atypical chronic myeloid leukemia, BCR-ABL1 negative
  • Aliases:
    • aCML
    • atypical CML
    • atypical chronic myeloid leukaemia
    • atypical chronic myeloid leukaemia BCR-ABL1 negative
    • atypical chronic myeloid leukemia BCR-ABL1 negative
    • subacute myeloid leukemia
Rattus norvegicus (Norway rat)
DOID:5015
  • fibrolamellar carcinoma
  • Aliases:
    • Fibrolamellar hepatocellular carcinoma
    • Hepatocellular carcinoma, fibrolamellar
    • Oncocytic Hepatocellular tumor
Rattus norvegicus (Norway rat)
DOID:0090078
  • hypogonadotropic hypogonadism 7 with or without anosmia
Rattus norvegicus (Norway rat)
DOID:0112189
  • thyroid dyshormonogenesis 6
  • Aliases:
    • TDH6
    • genetic defect in thyroid hormonogenesis 6
Rattus norvegicus (Norway rat)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024