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 4251 - 4275 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0070199
  • Miyoshi muscular dystrophy 1
  • Aliases:
    • MMD1
    • Miyoshi myopathy 1
Mus musculus (house mouse)
DOID:0110276
  • autosomal recessive limb-girdle muscular dystrophy type 2B
  • Aliases:
    • LGMD2B
    • LGMD3
    • limb-girdle muscular dystrophy due to dysferlin deficiency
    • limb-girdle muscular dystrophy type 3
Mus musculus (house mouse)
DOID:3227
  • tracheal stenosis
  • Aliases:
    • Stenosis of trachea
Homo sapiens (human)
DOID:0060613
  • X-linked cleft palate with or without ankyloglossia
  • Aliases:
    • X-linked cleft palate and ankyloglossia
Homo sapiens (human)
DOID:5363
  • myxoid liposarcoma
  • Aliases:
    • Myxoid/round cell liposarcoma
Homo sapiens (human)
DOID:5709
  • mixed-type liposarcoma
Homo sapiens (human)
DOID:14224
  • tracheal calcification
  • Aliases:
    • Calcification of trachea
Homo sapiens (human)
DOID:0111865
  • MEND syndrome
  • Aliases:
    • male EBP disorder with neurological defects
Homo sapiens (human)
DOID:0060604
  • ankyloglossia
  • Aliases:
    • tongue-tie
Homo sapiens (human)
DOID:0090045
  • childhood onset GLUT1 deficiency syndrome 2
Homo sapiens (human)
DOID:1826
  • epilepsy
  • Aliases:
    • epilepsy syndrome
    • epileptic syndrome
Saccharomyces cerevisiae S288C
DOID:3255
  • botryoid rhabdomyosarcoma
  • Aliases:
    • Botryoid sarcoma
    • Botryoid-type Embryonal Rhabdomyosarcoma
    • sarcoma botryoides
Homo sapiens (human)
DOID:3246
  • embryonal rhabdomyosarcoma
Homo sapiens (human)
DOID:200
  • benign giant cell tumor
Homo sapiens (human)
DOID:1388
  • Tangier disease
  • Aliases:
    • familial alpha-lipoprotein deficiency
    • familial high density lipoprotein deficiency
Homo sapiens (human)
DOID:0050766
  • choreaacanthocytosis
  • Aliases:
    • Levine-Critchley syndrome
    • choreo-acanthocytosis
Homo sapiens (human)
DOID:1387
  • hypolipoproteinemia
  • Aliases:
    • Hypolipoproteinaemia
Homo sapiens (human)
DOID:1391
  • Norum disease
  • Aliases:
    • LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
    • lecithin acyltransferase deficiency
Homo sapiens (human)
DOID:1386
  • abetalipoproteinemia
  • Aliases:
    • familial hypobetalipoproteinemia
    • microsomal triglyceride transfer protein deficiency disease
Homo sapiens (human)
DOID:0111062
  • familial hypobetalipoproteinemia 1
  • Aliases:
    • FHBL1
Homo sapiens (human)
DOID:0111060
  • Ambras type hypertrichosis universalis congenita
  • Aliases:
    • Ambras syndrome
    • HTC1
Homo sapiens (human)
DOID:0080759
  • Fanconi renotubular syndrome 3
Homo sapiens (human)
DOID:0110384
  • retinitis pigmentosa 25
  • Aliases:
    • RP25
Homo sapiens (human)
DOID:0110406
  • retinitis pigmentosa 30
  • Aliases:
    • RP30
Homo sapiens (human)
DOID:0050467
  • erythrokeratodermia variabilis
  • Aliases:
    • Erythrokeratodermia Figurata Variabilis
    • Greither Disease
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024