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 6351 - 6375 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Mus musculus (house mouse)
DOID:0060639
  • permanent neonatal diabetes mellitus
  • Aliases:
    • PDMI
    • PNDM
    • permanent diabetes mellitus of infancy
Mus musculus (house mouse)
DOID:3526
  • cerebral infarction
  • Aliases:
    • CVA - Cerebral infarction
    • Cerebral infarct
Mus musculus (house mouse)
DOID:3008
  • invasive ductal carcinoma
  • Aliases:
    • Infiltrating ductal carcinoma of breast
    • Invasive ductal carcinoma, NST
    • ductal adenocarcinoma
Mus musculus (house mouse)
DOID:8719
  • in situ carcinoma
Mus musculus (house mouse)
DOID:0050650
  • familial atrial fibrillation
  • Aliases:
    • ATFB
Mus musculus (house mouse)
DOID:0080547
  • metabolic dysfunction-associated steatohepatitis
  • Aliases:
    • MASH
    • NASH
    • non-alcoholic steatohepatitis
    • nonalcoholic steatohepatitis
Mus musculus (house mouse)
DOID:0050902
  • medulloblastoma
  • Aliases:
    • CNS PNET
    • CPNET
    • Medulloblastoma, histologically defined
    • brain medulloblastoma
    • infratentorial primitive neuroectodermal tumor
    • localized primitive neuroectodermal tumor
Mus musculus (house mouse)
DOID:0080561
  • congenital disorder of glycosylation Ii
  • Aliases:
    • congenital disorder of glycosylation 1i
Mus musculus (house mouse)
DOID:0060643
  • primary sclerosing cholangitis
Mus musculus (house mouse)
DOID:0080564
  • congenital disorder of glycosylation Il
  • Aliases:
    • congenital disorder of glycosylation 1l
Mus musculus (house mouse)
DOID:0111454
  • SHORT syndrome
  • Aliases:
    • Aarskog-Ose-Pande syndrome
    • Lipodystrophy-Rieger anomaly-diabetes syndrome
    • Rieger anomaly-partial lipodystrophy syndrome
    • short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Mus musculus (house mouse)
DOID:0080178
  • mucositis
Mus musculus (house mouse)
DOID:14227
  • azoospermia
Mus musculus (house mouse)
DOID:0080556
  • congenital disorder of glycosylation Id
  • Aliases:
    • congenital disorder of glycosylation 1d
Mus musculus (house mouse)
DOID:3069
  • malignant astrocytoma
  • Aliases:
    • Astrocytic tumor
    • astrocytoma of Cerebrum
    • astrocytoma of brain
    • astroglioma
    • cerebral astrocytoma
Mus musculus (house mouse)
DOID:1289
  • neurodegenerative disease
  • Aliases:
    • degenerative disease
Mus musculus (house mouse)
DOID:4483
  • rhinitis
Mus musculus (house mouse)
DOID:0070384
  • developmental and epileptic encephalopathy 98
  • Aliases:
    • DEE98
    • early infantile epileptic encephalopathy 98
Mus musculus (house mouse)
DOID:0060060
  • non-Hodgkin lymphoma
Mus musculus (house mouse)
DOID:0111949
  • immunodeficiency 36
  • Aliases:
    • IMD36
    • activated phosphoinositide 3-kinase delta syndrome 2
Mus musculus (house mouse)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Mus musculus (house mouse)
DOID:0080596
  • hyper IgE recurrent infection syndrome 4
Mus musculus (house mouse)
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Mus musculus (house mouse)
DOID:4928
  • intrahepatic cholangiocarcinoma
  • Aliases:
    • Intrahepatic bile duct carcinoma
    • peripheral Cholangiocarcinoma
Mus musculus (house mouse)

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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