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 776 - 800 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0080582
  • hypotrichosis 14
Homo sapiens (human)
DOID:6652
  • diffuse idiopathic skeletal hyperostosis
  • Aliases:
    • Ankylosing vertebral hyperostosis
    • DISH
    • Disseminated idiopathic skeletal hyperostosis
Homo sapiens (human)
DOID:0080037
  • Worth syndrome
  • Aliases:
    • Worth's syndrome
    • autosomal dominant endosteal hyperostosis
    • autosomal dominant osteosclerosis
    • benign form of Worth hyperostosis corticalis generalisata with torus platinus
Homo sapiens (human)
DOID:0110937
  • autosomal dominant osteopetrosis 1
  • Aliases:
    • OPTA1
    • autosomal dominant osteopetrosis type 1
Homo sapiens (human)
DOID:0111411
  • exudative vitreoretinopathy 4
  • Aliases:
    • EVR4
Homo sapiens (human)
DOID:0111418
  • familial apolipoprotein C-II deficiency
  • Aliases:
    • C-II anapolipoproteinemia
    • familial APOC2 deficiency
    • familial apoC-II deficiency
    • hyperlipoproteinemia, type 1b
    • hyperlipoproteinemia, type Ib
Homo sapiens (human)
DOID:0111421
  • familial apolipoprotein A5 deficiency
  • Aliases:
    • familial APOA5 deficiency
    • familial apolipoprotein A-V deficiency
Homo sapiens (human)
DOID:0070202
  • familial partial lipodystrophy type 2
  • Aliases:
    • FPLD2
    • familial lipodystrophy of limbs and lower trunk
    • familial partial lipodystrophy Dunnigan type
    • reverse partial lipodystrophy
Homo sapiens (human)
DOID:0111422
  • familial lipase maturation factor 1 deficiency
  • Aliases:
    • LPL and HL deficiency
    • LPL and HTGL deficiency
    • combined lipase deficiency
    • familial LMF1 deficiency
    • lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
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:0050527
  • obsolete familial hypertriglyceridemia
Homo sapiens (human)
DOID:2211
  • factor XIII deficiency
  • Aliases:
    • Factor XIII deficiency disease
    • Hereditary factor XIII deficiency disease
    • deficiency, Laki-Lorand factor
Homo sapiens (human)
DOID:2236
  • congenital afibrinogenemia
  • Aliases:
    • Factor I deficiency
    • Fibrinogen deficiency
Homo sapiens (human)
DOID:2216
  • factor V deficiency
  • Aliases:
    • Hereditary hypoproaccelerinaemia
    • Labile factor deficiency
    • Proaccelerin deficiency
    • deficiency, labile
Homo sapiens (human)
DOID:2215
  • factor VII deficiency
  • Aliases:
    • deficiency, stable
Homo sapiens (human)
DOID:14502
  • cholesterol ester storage disease
  • Aliases:
    • CESD
    • partial LAL deficiency
    • partial LIPA deficiency
    • partial cholesterol ester hydrolase deficiency
    • partial lysosomal acid lipase deficiency
Homo sapiens (human)
DOID:0060911
  • karyomegalic interstitial nephritis
  • Aliases:
    • KIN
    • KMIN
Homo sapiens (human)
DOID:10602
  • obsolete steatorrhea
Homo sapiens (human)
DOID:4784
  • immune-complex glomerulonephritis
  • Aliases:
    • Immune Complex Glomerulonephritis
Homo sapiens (human)
DOID:2217
  • Bernard-Soulier syndrome
  • Aliases:
    • Bernard - Soulier thrombopathy
    • Bernard Soulier syndrome
    • Giant platelet syndrome
    • Hemorrhagic dystrophic thrombocytopenia
    • Thrombopathy, Bernard-Soulier
Homo sapiens (human)
DOID:4337
  • tinea capitis
  • Aliases:
    • Scalp ringworm
    • Trichophyton rubrum tinea capitis
    • dermatophytosis of scalp or beard
    • tinea capitis due to Trichophyton rubrum
Homo sapiens (human)
DOID:6482
  • lung acinar adenocarcinoma
  • Aliases:
    • acinar adenocarcinoma of the lung
Homo sapiens (human)
DOID:11693
  • acute apical periodontitis
  • Aliases:
    • acute apical periodontitis of pulpal origin
Homo sapiens (human)
DOID:0050783
  • secondary progressive multiple sclerosis
  • Aliases:
    • SPMS
    • Secondary-progressive MS
Homo sapiens (human)
DOID:0050785
  • progressive relapsing multiple sclerosis
  • Aliases:
    • PRMS
    • Progressive-relapsing MS
Homo sapiens (human)

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Last updated: August 19, 2024