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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 5776 - 5800 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0111077
  • pyruvate kinase deficiency of red cells
  • Aliases:
    • PK deficiency
    • hemolytic anemia due to red cell pyruvate kinase deficiency
    • pyruvate kinase deficiency of erythrocyte
Rattus norvegicus (Norway rat)
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Rattus norvegicus (Norway rat)
DOID:0080212
  • polycystic kidney disease 4
Mus musculus (house mouse)
DOID:0081394
  • Caroli syndrome
Mus musculus (house mouse)
DOID:0110859
  • polycystic kidney disease 2
  • Aliases:
    • Apkd2
    • Pkd2
    • Polycystic Kidney Disease, Adult, Type II
Mus musculus (house mouse)
DOID:0070411
  • autosomal recessive spinocerebellar ataxia 30
  • Aliases:
    • SCAR30
Mus musculus (house mouse)
DOID:9277
  • primary cerebellar degeneration
Mus musculus (house mouse)
DOID:0060653
  • lethal congenital contracture syndrome 3
  • Aliases:
    • Israeli Bedouin type B multiple contracture syndrome
Mus musculus (house mouse)
DOID:14179
  • X-linked agammaglobulinemia
  • Aliases:
    • BTK deficiency
    • Bruton agammaglobulinemia tyrosine kinase deficiency
    • Bruton disease
    • Bruton's Sex-Linked Agammaglobulinemia
    • Bruton's agammaglobulinaemia
    • Bruton's type agammaglobulinemia
    • Bruton-type agammaglobulinemia
Rattus norvegicus (Norway rat)
DOID:0081139
  • agammaglobulinemia 7
Rattus norvegicus (Norway rat)
DOID:0111949
  • immunodeficiency 36
  • Aliases:
    • IMD36
    • activated phosphoinositide 3-kinase delta syndrome 2
Rattus norvegicus (Norway rat)
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
Rattus norvegicus (Norway rat)
DOID:7305
  • astroblastoma
Rattus norvegicus (Norway rat)
DOID:0111949
  • immunodeficiency 36
  • Aliases:
    • IMD36
    • activated phosphoinositide 3-kinase delta syndrome 2
Mus musculus (house mouse)
DOID:0081139
  • agammaglobulinemia 7
Mus musculus (house mouse)
DOID:7305
  • astroblastoma
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:6498
  • seborrheic keratosis
Mus musculus (house mouse)
DOID:0081001
  • Cowden syndrome 5
Mus musculus (house mouse)
DOID:0080351
  • CLOVES syndrome
  • Aliases:
    • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Mus musculus (house mouse)
DOID:0111162
  • epidermal nevus
  • Aliases:
    • nonepidermolytic keratinocytic nevus
Mus musculus (house mouse)
DOID:3450
  • cutaneous Paget's disease
  • Aliases:
    • Paget's disease of skin
    • cutaneous Paget disease
    • extramammary Paget's disease
Mus musculus (house mouse)
DOID:0081001
  • Cowden syndrome 5
Rattus norvegicus (Norway rat)
DOID:3450
  • cutaneous Paget's disease
  • Aliases:
    • Paget's disease of skin
    • cutaneous Paget disease
    • extramammary Paget's disease
Rattus norvegicus (Norway rat)
DOID:0060075
  • estrogen-receptor positive breast cancer
Rattus norvegicus (Norway rat)
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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: December 9, 2024