GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2776 - 2800 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:3323
  • Sandhoff disease
  • Aliases:
    • Sandhoff Jatzkewitz disease
Drosophila melanogaster (fruit fly)
DOID:3320
  • Tay-Sachs disease
  • Aliases:
    • GM2 gangliosidosis, type 1
    • hexosaminidase A deficiency
Drosophila melanogaster (fruit fly)
DOID:3211
  • lysosomal storage disease
  • Aliases:
    • disorder of lysosomal enzyme
    • inborn lysosomal enzyme disorder
    • lysosomal storage metabolism disorder
Drosophila melanogaster (fruit fly)
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Rattus norvegicus (Norway rat)
DOID:10584
  • retinitis pigmentosa
  • Aliases:
    • pericentral pigmentary retinopathy
Rattus norvegicus (Norway rat)
DOID:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
Homo sapiens (human)
DOID:9258
  • Waardenburg syndrome
  • Aliases:
    • Waardenburg Shah syndrome
    • Waardenburg's syndrome
    • van der Hoeve Halbertsona Waardenburg syndrome
Homo sapiens (human)
DOID:2717
  • Bloom syndrome
  • Aliases:
    • Bloom-Torre-Machacek syndrome
    • Congenital Telangiectatic Erythema syndrome
Homo sapiens (human)
DOID:0111169
  • subcortical band heterotopia
  • Aliases:
    • HeCo
    • band heterotopia
    • double cortex syndrome
    • heterotopic cortex
    • subcortical laminar heterotopia
Homo sapiens (human)
DOID:0080108
  • myoglobinuria
Rattus norvegicus (Norway rat)
DOID:11664
  • nephrosclerosis
  • Aliases:
    • renal sclerosis
Rattus norvegicus (Norway rat)
DOID:0110915
  • childhood hypophosphatasia
Homo sapiens (human)
DOID:0070086
  • schizophrenia 10
  • Aliases:
    • SCZD10
Homo sapiens (human)
DOID:0050763
  • ARC syndrome
  • Aliases:
    • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
    • Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
    • Arthrogryposis-renal dysfunction-cholestasis
Homo sapiens (human)
DOID:0111353
  • arthrogryposis, renal dysfunction, and cholestasis 1
  • Aliases:
    • ARCS1
Homo sapiens (human)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Homo sapiens (human)
DOID:3308
  • embryonal carcinoma
  • Aliases:
    • primary extragonadal embryonal carcinoma
Homo sapiens (human)
DOID:0110913
  • adult hypophosphatasia
  • Aliases:
    • mild hypophosphatasia
Homo sapiens (human)
DOID:0110914
  • infantile hypophosphatasia
  • Aliases:
    • Hops
    • phosphoethanolaminuria
Homo sapiens (human)
DOID:14213
  • hypophosphatasia
  • Aliases:
    • deficiency of alkaline phosphatase
Homo sapiens (human)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Rattus norvegicus (Norway rat)
DOID:2739
  • Gilbert syndrome
  • Aliases:
    • Constitutional hyperbilirubinemia
    • Gilbert's disease
    • Gilbert's syndrome
    • Gilbert-Meulengracht syndrome
    • hereditary nonhemolytic jaundice
Rattus norvegicus (Norway rat)
DOID:2741
  • bilirubin metabolic disorder
  • Aliases:
    • hereditary hyperbilirubinemia
    • hyperbilirubinemia
Rattus norvegicus (Norway rat)
DOID:11151
  • cholecystolithiasis
Rattus norvegicus (Norway rat)
DOID:8692
  • myeloid leukemia
  • Aliases:
    • Non-Lymphocytic Leukemia
    • leukaemia myelogenous
    • leukemia myelogenous
    • myeloid granulocytic leukaemia
    • myeloid granulocytic leukemia
    • myeloid leukaemia
Rattus norvegicus (Norway rat)

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Last updated: August 19, 2024