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 2676 - 2700 of 4621 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism
DOID:0060698
  • hyperekplexia 3
  • Aliases:
    • HKPX3
Homo sapiens (human)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Homo sapiens (human)
DOID:999
  • hypereosinophilic syndrome
  • Aliases:
    • Eosinophilic leukocytosis
    • eosinophilia
Homo sapiens (human)
DOID:0111256
  • hyperferritinemia-cataract syndrome
  • Aliases:
    • Bonneau-Beaumont syndrome
    • HHCS
    • HRFTC
    • cataract-hyperferritinemia syndrome
    • hereditary hyperferritinemia with congenital cataracts
    • hereditary hyperferritinemia-cataract syndrome
    • hyperferritinemia with or without cataract
Homo sapiens (human)
DOID:4195
  • hyperglycemia
Homo sapiens (human)
DOID:9279
  • hyperhomocysteinemia
Homo sapiens (human)
DOID:13317
  • hyperinsulinemic hypoglycemia
  • Aliases:
    • Islet cell hyperplasia
    • nesidioblastosis
    • persistent hyperinsulinemia hypoglycemia of infancy
Homo sapiens (human)
DOID:2018
  • hyperinsulinism
  • Aliases:
    • hyperinsulinemia
Homo sapiens (human)
DOID:14451
  • hyperkalemic periodic paralysis
  • Aliases:
    • familial hyperkalemic periodic paralysis
Homo sapiens (human)
DOID:3145
  • hyperlipoproteinemia type III
  • Aliases:
    • Remnant hyperlipidemia
    • carbohydrate induced hyperlipemia
    • familial hypercholesterolaemia with hyperlipaemia
    • familial type 3 hyperlipoproteinemia
Homo sapiens (human)
DOID:1172
  • hyperlipoproteinemia type IV
  • Aliases:
    • Endogenous hyperlipidaemia
    • Fredrickson type IV Lipidemia
    • Fredrickson type IV hyperlipoproteinemia
    • Fredrickson type IV lipidaemia
    • VLDL hyperlipoproteinemia
    • familial hypertriglyceridemia
Homo sapiens (human)
DOID:1171
  • hyperlipoproteinemia type V
  • Aliases:
    • Fredrickson type V lipaemia
    • familial hyperlipoproteinemia type V
    • familial type 5 hyperlipoproteinemia
Homo sapiens (human)
DOID:9274
  • hyperlysinemia
Homo sapiens (human)
DOID:0080537
  • hypermanganesemia with dystonia 2
Homo sapiens (human)
DOID:9834
  • hyperopia
  • Aliases:
    • Far-sightedness
    • farsightedness
    • hypermetropia
Homo sapiens (human)
DOID:205
  • hyperostosis
  • Aliases:
    • bone hypertrophy
    • hypertrophy of bone
Homo sapiens (human)
DOID:13543
  • hyperparathyroidism
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: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:0070435
  • hyperphosphatasia with impaired intellectual development syndrome 3
  • Aliases:
    • GPIBD8
    • HPMRS3
    • glycosylphosphatidylinositol biosynthesis defect 8
    • hyperphosphatasia with mental retardation syndrome 3
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
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:0050459
  • hyperphosphatemia
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)

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Last updated: August 19, 2024