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 1226 - 1250 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0060378
  • orofaciodigital syndrome VIII
  • Aliases:
    • OFD8
Homo sapiens (human)
DOID:0060013
  • X-linked severe combined immunodeficiency
  • Aliases:
    • SCID-X1
    • XSCID
    • gamma chain deficiency
    • thymic epithelial hypoplasia
Homo sapiens (human)
DOID:0111083
  • Fanconi anemia complementation group D2
  • Aliases:
    • FA4
    • FAD2
    • FANCD2
    • Fanconi pancytopenia type 4
Homo sapiens (human)
DOID:628
  • combined T cell and B cell immunodeficiency
  • Aliases:
    • Congenital Combined Immunodeficiency
Homo sapiens (human)
DOID:0060222
  • Scheie syndrome
  • Aliases:
    • mucopolysaccharidosis type 1S
    • mucopolysaccharidosis type IS
    • mucopolysaccharidosis type V
Homo sapiens (human)
DOID:0060705
  • X-linked lymphoproliferative syndrome 1
  • Aliases:
    • XLP1
Homo sapiens (human)
DOID:5378
  • hemoglobin D disease
  • Aliases:
    • Hb-D disease
Homo sapiens (human)
DOID:2859
  • hemoglobin C disease
  • Aliases:
    • Hb-C disease
Homo sapiens (human)
DOID:5379
  • hemoglobin E disease
  • Aliases:
    • Hb-E disease
Homo sapiens (human)
DOID:12134
  • factor VIII deficiency
  • Aliases:
    • Congenital factor VIII disorder
    • Hemophilia A
    • Subhemophilia
    • classic hemophilia A
Homo sapiens (human)
DOID:9258
  • Waardenburg syndrome
  • Aliases:
    • Waardenburg Shah syndrome
    • Waardenburg's syndrome
    • van der Hoeve Halbertsona Waardenburg syndrome
Homo sapiens (human)
DOID:0110948
  • Waardenburg syndrome type 1
  • Aliases:
    • WS1
    • Waardenburg syndrome type I
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:0110915
  • childhood hypophosphatasia
Homo sapiens (human)
DOID:0070086
  • schizophrenia 10
  • Aliases:
    • SCZD10
Homo sapiens (human)
DOID:0111353
  • arthrogryposis, renal dysfunction, and cholestasis 1
  • Aliases:
    • ARCS1
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: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:0110914
  • infantile hypophosphatasia
  • Aliases:
    • Hops
    • phosphoethanolaminuria
Homo sapiens (human)
DOID:0110913
  • adult hypophosphatasia
  • Aliases:
    • mild hypophosphatasia
Homo sapiens (human)
DOID:14213
  • hypophosphatasia
  • Aliases:
    • deficiency of alkaline phosphatase
Homo sapiens (human)
DOID:0070309
  • absence epilepsy
Homo sapiens (human)
DOID:1825
  • childhood absence epilepsy
  • Aliases:
    • petit mal seizure
    • pyknolepsy
Homo sapiens (human)

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Last updated: August 19, 2024