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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 7801 - 7825 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111681
  • glutamate-cysteine ligase deficiency
  • Aliases:
    • gamma-glutamylcysteine synthetase deficiency
    • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Mus musculus (house mouse)
DOID:0111682
  • diffuse cystic renal dysplasia
  • Aliases:
    • CYSRD
    • renal dysplasia diffuse cystic
    • susceptibility to cystic renal dysplasia
Homo sapiens (human)
DOID:0111683
  • neurofibromatosis-Noonan syndrome
  • Aliases:
    • NFNS
    • Noonan neurofibromatosis syndrome
    • neurofibromatosis type 1-Noonan syndrome
    • neurofibromatosis with Noonan phenotype
Mus musculus (house mouse)
DOID:0111683
  • neurofibromatosis-Noonan syndrome
  • Aliases:
    • NFNS
    • Noonan neurofibromatosis syndrome
    • neurofibromatosis type 1-Noonan syndrome
    • neurofibromatosis with Noonan phenotype
Homo sapiens (human)
DOID:0111686
  • hereditary mixed polyposis syndrome 2
  • Aliases:
    • HMPS2
Rattus norvegicus (Norway rat)
DOID:0111686
  • hereditary mixed polyposis syndrome 2
  • Aliases:
    • HMPS2
Caenorhabditis elegans
DOID:0111686
  • hereditary mixed polyposis syndrome 2
  • Aliases:
    • HMPS2
Mus musculus (house mouse)
DOID:0111686
  • hereditary mixed polyposis syndrome 2
  • Aliases:
    • HMPS2
Homo sapiens (human)
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Caenorhabditis elegans
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Drosophila melanogaster (fruit fly)
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Homo sapiens (human)
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Rattus norvegicus (Norway rat)
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Mus musculus (house mouse)
DOID:0111693
  • familial adult myoclonic epilepsy 4
  • Aliases:
    • FAME4
    • FCMTE4
    • familial cortical myoclonic tremor and epilepsy 4
Homo sapiens (human)
DOID:0111693
  • familial adult myoclonic epilepsy 4
  • Aliases:
    • FAME4
    • FCMTE4
    • familial cortical myoclonic tremor and epilepsy 4
Mus musculus (house mouse)
DOID:0111694
  • familial adult myoclonic epilepsy 7
  • Aliases:
    • BAFME7
    • FAME7
    • FCMTE7
    • benign adult familial myoclonic epilepsy 7
    • familial cortical myoclonic tremor and epilepsy 7
Homo sapiens (human)
DOID:0111694
  • familial adult myoclonic epilepsy 7
  • Aliases:
    • BAFME7
    • FAME7
    • FCMTE7
    • benign adult familial myoclonic epilepsy 7
    • familial cortical myoclonic tremor and epilepsy 7
Rattus norvegicus (Norway rat)
DOID:0111696
  • familial adult myoclonic epilepsy 6
  • Aliases:
    • BAFME6
    • FAME6
    • FCMTE6
    • benign adult familial myoclonic epilepsy 6
    • familial cortical myoclonic tremor and epilepsy 6
Homo sapiens (human)
DOID:0111696
  • familial adult myoclonic epilepsy 6
  • Aliases:
    • BAFME6
    • FAME6
    • FCMTE6
    • benign adult familial myoclonic epilepsy 6
    • familial cortical myoclonic tremor and epilepsy 6
Mus musculus (house mouse)
DOID:0111698
  • proprotein convertase 1/3 deficiency
  • Aliases:
    • PCI deficiency
    • obesity and endocrinopathy due to impaired processing of prohormones
    • obesity due to prohormone convertase I deficiency
    • obesity with impaired prohormone processing
Rattus norvegicus (Norway rat)
DOID:0111698
  • proprotein convertase 1/3 deficiency
  • Aliases:
    • PCI deficiency
    • obesity and endocrinopathy due to impaired processing of prohormones
    • obesity due to prohormone convertase I deficiency
    • obesity with impaired prohormone processing
Homo sapiens (human)
DOID:0111698
  • proprotein convertase 1/3 deficiency
  • Aliases:
    • PCI deficiency
    • obesity and endocrinopathy due to impaired processing of prohormones
    • obesity due to prohormone convertase I deficiency
    • obesity with impaired prohormone processing
Saccharomyces cerevisiae S288C
DOID:0111698
  • proprotein convertase 1/3 deficiency
  • Aliases:
    • PCI deficiency
    • obesity and endocrinopathy due to impaired processing of prohormones
    • obesity due to prohormone convertase I deficiency
    • obesity with impaired prohormone processing
Mus musculus (house mouse)
DOID:0111699
  • Van den Ende-Gupta syndrome
  • Aliases:
    • Marden-Walker-like syndrome
    • Marden-Walker-like syndrome without psychmotor retardation
    • VDEGS
    • blepharophimosis, arachnodactyly, and congenital contractures
Mus musculus (house mouse)
DOID:0111699
  • Van den Ende-Gupta syndrome
  • Aliases:
    • Marden-Walker-like syndrome
    • Marden-Walker-like syndrome without psychmotor retardation
    • VDEGS
    • blepharophimosis, arachnodactyly, and congenital contractures
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024