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 12776 - 12800 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070517
  • retinal macular dystrophy 2
  • Aliases:
    • MCDR2
Homo sapiens (human)
DOID:0070516
  • Mitchell syndrome
Drosophila melanogaster (fruit fly)
DOID:0070516
  • Mitchell syndrome
Saccharomyces cerevisiae S288C
DOID:0070516
  • Mitchell syndrome
Homo sapiens (human)
DOID:0070516
  • Mitchell syndrome
Mus musculus (house mouse)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Rattus norvegicus (Norway rat)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Drosophila melanogaster (fruit fly)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Mus musculus (house mouse)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0070514
  • neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  • Aliases:
    • NEDDFL
Homo sapiens (human)
DOID:0070514
  • neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  • Aliases:
    • NEDDFL
Drosophila melanogaster (fruit fly)
DOID:0070511
  • polyhydramnios, megalencephaly, and symptomatic epilepsy
  • Aliases:
    • PMSE
    • PMSE syndrome
    • Pretzel syndrome
Homo sapiens (human)
DOID:0070509
  • Schinzel Giedion syndrome
  • Aliases:
    • SGS
    • Schinzel-Giedion midface retraction syndrome
Mus musculus (house mouse)
DOID:0070509
  • Schinzel Giedion syndrome
  • Aliases:
    • SGS
    • Schinzel-Giedion midface retraction syndrome
Homo sapiens (human)
DOID:0070505
  • mitochondrial complex IV deficiency nuclear type 20
  • Aliases:
    • MC4DN20
Mus musculus (house mouse)
DOID:0070505
  • mitochondrial complex IV deficiency nuclear type 20
  • Aliases:
    • MC4DN20
Rattus norvegicus (Norway rat)
DOID:0070501
  • mitochondrial complex IV deficiency nuclear type 16
  • Aliases:
    • MC4DN16
Rattus norvegicus (Norway rat)
DOID:0070501
  • mitochondrial complex IV deficiency nuclear type 16
  • Aliases:
    • MC4DN16
Mus musculus (house mouse)
DOID:0070495
  • mitochondrial complex IV deficiency nuclear type 8
  • Aliases:
    • MC4DN8
Homo sapiens (human)
DOID:0070494
  • mitochondrial complex IV deficiency nuclear type 7
  • Aliases:
    • MC4DN7
Mus musculus (house mouse)
DOID:0070491
  • mitochondrial complex IV deficiency nuclear type 1
  • Aliases:
    • MC4DN1
Homo sapiens (human)
DOID:0070490
  • infantile parkinsonism-dystonia 2
  • Aliases:
    • Brain dopamine-serotonin vesicular transport disease
    • PKDYS2
Caenorhabditis elegans
DOID:0070490
  • infantile parkinsonism-dystonia 2
  • Aliases:
    • Brain dopamine-serotonin vesicular transport disease
    • PKDYS2
Rattus norvegicus (Norway rat)
DOID:0070490
  • infantile parkinsonism-dystonia 2
  • Aliases:
    • Brain dopamine-serotonin vesicular transport disease
    • PKDYS2
Mus musculus (house mouse)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024