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 4326 - 4350 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Drosophila melanogaster (fruit fly)
DOID:2256
  • osteochondrodysplasia
  • Aliases:
    • Cartilage Development disorder
    • Congenital anomaly of cartilage
    • Osteochondrodysplasia syndrome
    • chondrodystrophy
    • skeletal dysplasia
Drosophila melanogaster (fruit fly)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Drosophila melanogaster (fruit fly)
DOID:0050545
  • visceral heterotaxy
  • Aliases:
    • heterotaxia
    • situs ambiguus
Drosophila melanogaster (fruit fly)
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Drosophila melanogaster (fruit fly)
DOID:0111040
  • glycogen storage disease IXd
  • Aliases:
    • GSD IXd
    • GSD due to muscle phosphorylase kinase deficiency
    • GSD type 9D
    • GSD type 9E
    • GSD type IXd
    • GSD type IXe
    • GSD9D
    • X-linked muscke glycogenosis
    • glycogen storage disease due to muscle phosphorylase kinase deficiency
    • glycogen storage disease type 9D
    • glycogen storage disease type 9E
    • glycogen storage disease type IXd
    • glycogen storage disease type IXe
    • glycogenosis due to muscle phosphorylase kinase deficiency
    • glycogenosis type 9D
    • glycogenosis type 9E
    • glycogenosis type IXd
    • glycogenosis type IXe
    • muscle phosphorylase kinase deficiency
Drosophila melanogaster (fruit fly)
DOID:1459
  • hypothyroidism
  • Aliases:
    • Thyroid deficiency
    • Thyroid insufficiency
Drosophila melanogaster (fruit fly)
DOID:2747
  • glycogen storage disease
  • Aliases:
    • glycogenosis
Drosophila melanogaster (fruit fly)
DOID:0111156
  • spermatogenic failure 9
  • Aliases:
    • globozoospermia
    • male infertility due to round-headed spermatozoa
Drosophila melanogaster (fruit fly)
DOID:0080558
  • congenital disorder of glycosylation If
  • Aliases:
    • congenital disorder of glycosylation 1f
Drosophila melanogaster (fruit fly)
DOID:12554
  • hemolytic-uremic syndrome
  • Aliases:
    • haemolytic-uraemic syndrome
    • hemolytic uremic syndrome
Drosophila melanogaster (fruit fly)
DOID:0080520
  • Tn polyagglutination syndrome
  • Aliases:
    • galactosyltransferase deficiency
Drosophila melanogaster (fruit fly)
DOID:0110798
  • hereditary spastic paraplegia 46
  • Aliases:
    • SPG46
    • autosomal recessive spastic paraplegia 46
    • autosomal recessive spastic paraplegia type 46
Drosophila melanogaster (fruit fly)
DOID:0111238
  • congenital muscular dystrophy-dystroglycanopathy type A13
  • Aliases:
    • MDDGA13
    • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
    • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Drosophila melanogaster (fruit fly)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Drosophila melanogaster (fruit fly)
DOID:2565
  • macular corneal dystrophy
  • Aliases:
    • Fehr corneal dystrophy
    • MACULAR DYSTROPHY, CORNEAL, 1
Drosophila melanogaster (fruit fly)
DOID:5419
  • schizophrenia
  • Aliases:
    • schizophrenia-1
Drosophila melanogaster (fruit fly)
DOID:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
Drosophila melanogaster (fruit fly)
DOID:0060256
  • Dowling-Degos disease
  • Aliases:
    • dark dot disease
    • reticular pigment anomaly of flexures
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: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: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: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)

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Supported by JST NBDC Grant Number JPMJND2204

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


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