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 3576 - 3600 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0050545
  • visceral heterotaxy
  • Aliases:
    • heterotaxia
    • situs ambiguus
Homo sapiens (human)
DOID:0111444
  • progressive myoclonus epilepsy 4
  • Aliases:
    • AMRF
    • EPM4
    • Myoclonus-nephropathy syndrome
    • action myoclonus-renal failure syndrome
Homo sapiens (human)
DOID:10881
  • hand, foot and mouth disease
  • Aliases:
    • Vesicular stomatitis and exanthem
Homo sapiens (human)
DOID:0080218
  • primary spontaneous pneumothorax
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
Homo sapiens (human)
DOID:0060161
  • Kennedy's disease
  • Aliases:
    • Kennedy disease
    • SBMA
    • Spinobulbar Muscular Atrophy
    • X-Linked Bulbo-Spinal Atrophy
    • X-linked Spinal and Bulbar Muscular Atrophy
    • spinal bulbar muscular atrophy
Homo sapiens (human)
DOID:0060771
  • obsolete dextro-looped transposition of the great arteries 1
Homo sapiens (human)
DOID:0060770
  • dextro-looped transposition of the great arteries
  • Aliases:
    • D-TGA
    • DTGA1
    • congenitally uncorrected transposition of the great arteries
    • congenitally uncorrected transposition of the great vessels
    • isolated ventriculoarterial discordance
    • ventriculoarterial discordance with atrioventricular concordance
Homo sapiens (human)
DOID:0060856
  • right atrial isomerism
  • Aliases:
    • Ivemark syndrome
    • asplenia with cardiovascular anomalies
Homo sapiens (human)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Drosophila melanogaster (fruit fly)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Drosophila melanogaster (fruit fly)
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Drosophila melanogaster (fruit fly)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Drosophila melanogaster (fruit fly)
DOID:9884
  • muscular dystrophy
Drosophila melanogaster (fruit fly)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Drosophila melanogaster (fruit fly)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Drosophila melanogaster (fruit fly)
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
Drosophila melanogaster (fruit fly)
DOID:0110299
  • autosomal recessive limb-girdle muscular dystrophy type 2I
  • Aliases:
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
    • MDDGC5
    • muscular dystrophy limb-girdle type 2I
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
    • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Drosophila melanogaster (fruit fly)
DOID:1793
  • pancreatic cancer
  • Aliases:
    • Ca body of pancreas
    • Ca head of pancreas
    • Ca tail of pancreas
    • malignant neoplasm of body of pancreas
    • malignant neoplasm of head of pancreas
    • malignant neoplasm of tail of pancreas
    • pancreas neoplasm
    • pancreatic neoplasm
    • pancreatic tumor
Drosophila melanogaster (fruit fly)
DOID:0050625
  • biliary tract benign neoplasm
  • Aliases:
    • extrahepatic bile duct neoplasm
    • neoplasm of extrahepatic bile ducts
    • tumor of the extrahepatic bile duct
Drosophila melanogaster (fruit fly)
DOID:4608
  • common bile duct neoplasm
  • Aliases:
    • neoplasm of common bile duct
Drosophila melanogaster (fruit fly)
DOID:0080664
  • diaphyseal medullary stenosis with malignant fibrous histiocytoma
  • Aliases:
    • Hardcastle syndrome
    • bone dysplasia-medullary fibrosarcoma syndrome
    • diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Drosophila melanogaster (fruit fly)
DOID:0060256
  • Dowling-Degos disease
  • Aliases:
    • dark dot disease
    • reticular pigment anomaly of flexures
Drosophila melanogaster (fruit fly)
DOID:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
Drosophila melanogaster (fruit fly)

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Last updated: August 19, 2024