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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 9776 - 9800 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Drosophila melanogaster (fruit fly)
DOID:10112
  • sleeping sickness
  • Aliases:
    • African sleeping sickness
    • African trypanosomiasis
Drosophila melanogaster (fruit fly)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Drosophila melanogaster (fruit fly)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Homo sapiens (human)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Homo sapiens (human)
DOID:0081223
  • glycosylphosphatidylinositol biosynthesis defect 16
  • Aliases:
    • Intellectual developmental disorder, autosomal recessive 62
Homo sapiens (human)
DOID:0112152
  • CHIME syndrome
  • Aliases:
    • PIGL-CDG
    • Zunich neuroectodermal syndrome
    • Zunich-Kaye syndrome
    • coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
    • congenital disorder of glycosylation due to PIGL deficiency
    • neuroectodermal dysplasia, CHIME type
    • neuroectodermal syndrome, Zunich type
Homo sapiens (human)
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Homo sapiens (human)
DOID:0070434
  • hyperphosphatasia with impaired intellectual development syndrome 2
  • Aliases:
    • GPIBD6
    • HPMRS2
    • glycosylphosphatidylinositol biosynthesis defect 6
    • hyperphosphatasia with mental retardation syndrome 2
Homo sapiens (human)
DOID:0080283
  • developmental and epileptic encephalopathy 55
  • Aliases:
    • DEE55
    • GPIBD14
    • early infantile epileptic encephalopathy 55
    • glycosylphosphatidylinositol biosynthesis defect 14
Homo sapiens (human)
DOID:0112213
  • multiple congenital anomalies-hypotonia-seizures syndrome 4
  • Aliases:
    • DEE77
    • GPIBD19
    • MCAHS4
    • developmental and epileptic encephalopathy 77
    • early infantile epileptic encephalopathy 77
    • glycosylphosphatidylinositol biosynthesis defect 19
Homo sapiens (human)
DOID:0070382
  • developmental and epileptic encephalopathy 95
  • Aliases:
    • DEE95
    • early infantile epileptic encephalopathy 95
Homo sapiens (human)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Homo sapiens (human)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Homo sapiens (human)
DOID:0070432
  • hyperphosphatasia with impaired intellectual development syndrome 5
  • Aliases:
    • GPIBD11
    • HPMRS5
    • glycosylphosphatidylinositol biosynthesis defect 11
    • hyperphosphatasia with mental retardation syndrome 5
Homo sapiens (human)
DOID:0070437
  • hyperphosphatasia with impaired intellectual development syndrome 6
  • Aliases:
    • GPIBD40
    • HPMRS4
    • glycosylphosphatidylinositol biosynthesis defect 40
    • hyperphosphatasia with mental retardation syndrome 4
Homo sapiens (human)
DOID:0081001
  • Cowden syndrome 5
Homo sapiens (human)
DOID:3450
  • cutaneous Paget's disease
  • Aliases:
    • Paget's disease of skin
    • cutaneous Paget disease
    • extramammary Paget's disease
Homo sapiens (human)
DOID:0080351
  • CLOVES syndrome
  • Aliases:
    • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Homo sapiens (human)
DOID:0111936
  • immunodeficiency 14
  • Aliases:
    • APDS
    • IMD14
    • PASLI disease
    • activated PI3K-delta syndrome
    • senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Homo sapiens (human)
DOID:0050211
  • swine influenza
Homo sapiens (human)
DOID:0060448
  • Fleck corneal dystrophy
  • Aliases:
    • FCD
    • Francois-Neetens speckled corneal dystrophy
Homo sapiens (human)
DOID:2998
  • testicular cancer
  • Aliases:
    • childhood neoplasm of the testis
    • neoplasm of testis
    • pediatric testicular neoplasm
    • testicular tumor
    • testis cancer
    • testis neoplasm
Homo sapiens (human)
DOID:0060369
  • Parkinson's disease 6
  • Aliases:
    • PARK6
    • autosomal recessive early-onset Parkinson disease 6
    • autosomal recessive early-onset Parkinson's disease 6
    • early-onset Parkinson disease 6
Homo sapiens (human)
DOID:0060653
  • lethal congenital contracture syndrome 3
  • Aliases:
    • Israeli Bedouin type B multiple contracture syndrome
Homo sapiens (human)
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Last updated: December 9, 2024