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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 7876 - 7900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111742
  • cerebellar ataxia type 42
  • Aliases:
    • SCA42
Homo sapiens (human)
DOID:0111742
  • cerebellar ataxia type 42
  • Aliases:
    • SCA42
Mus musculus (house mouse)
DOID:0111743
  • cerebellar ataxia type 47
  • Aliases:
    • SCA47
Saccharomyces cerevisiae S288C
DOID:0111743
  • cerebellar ataxia type 47
  • Aliases:
    • SCA47
Homo sapiens (human)
DOID:0111743
  • cerebellar ataxia type 47
  • Aliases:
    • SCA47
Mus musculus (house mouse)
DOID:0111744
  • cerebellar ataxia type 41
  • Aliases:
    • SCA41
Homo sapiens (human)
DOID:0111744
  • cerebellar ataxia type 41
  • Aliases:
    • SCA41
Mus musculus (house mouse)
DOID:0111745
  • cerebellar ataxia type 43
  • Aliases:
    • SCA43
Rattus norvegicus (Norway rat)
DOID:0111745
  • cerebellar ataxia type 43
  • Aliases:
    • SCA43
Homo sapiens (human)
DOID:0111745
  • cerebellar ataxia type 43
  • Aliases:
    • SCA43
Drosophila melanogaster (fruit fly)
DOID:0111745
  • cerebellar ataxia type 43
  • Aliases:
    • SCA43
Caenorhabditis elegans
DOID:0111745
  • cerebellar ataxia type 43
  • Aliases:
    • SCA43
Mus musculus (house mouse)
DOID:0111753
  • infantile hypertrophic cardiomyopathy
Homo sapiens (human)
DOID:0111756
  • Leber hereditary optic neuropathy with demyelinating disease of CNS
Homo sapiens (human)
DOID:0111758
  • Y-linked deafness 2
  • Aliases:
    • DFNY2
Homo sapiens (human)
DOID:0111758
  • Y-linked deafness 2
  • Aliases:
    • DFNY2
Mus musculus (house mouse)
DOID:0111765
  • X-linked cardiac valvular dysplasia
  • Aliases:
    • CVD1
    • Dystrophie valvulaire associee a FLNA
    • EDS 5
    • Ehlers-Danlos syndrome, type 5
    • FLNA-related X-linked myxomatous valvular dysplasia
    • FLNA-related valvular dystrophy
    • Filamin A-related X-linked myxomatous valvular dysplasia
    • XMVD
Homo sapiens (human)
DOID:0111766
  • X-linked VACTERL association
  • Aliases:
    • VACTERL association, X-linked with or without hydrocephalus
    • VACTERLX
Mus musculus (house mouse)
DOID:0111768
  • X-linked properdin deficiency
  • Aliases:
    • CFPD
    • complement factor properdin deficiency
Mus musculus (house mouse)
DOID:0111768
  • X-linked properdin deficiency
  • Aliases:
    • CFPD
    • complement factor properdin deficiency
Homo sapiens (human)
DOID:0111769
  • 46,XY sex reversal 6
  • Aliases:
    • 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
    • 46,XY sex reversal, partial or complete, MAP3K1-related
    • SRXY6
Homo sapiens (human)
DOID:0111773
  • 46,XY sex reversal 8
  • Aliases:
    • SRXY8
    • TDD
    • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Homo sapiens (human)
DOID:0111773
  • 46,XY sex reversal 8
  • Aliases:
    • SRXY8
    • TDD
    • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Saccharomyces cerevisiae S288C
DOID:0111774
  • 46,XY sex reversal 7
  • Aliases:
    • 46,XY gonadal dysgenesis, partial or complete, DHH-related
    • 46,XY sex reversal, partial or complete, DHH-related
    • GDXYM
    • SRXY7
    • gonadal dysgenesis, XY, male limited
Caenorhabditis elegans
DOID:0111776
  • 46,XY sex reversal 5
  • Aliases:
    • 46,XY gonadal dysgenesis, complete, CBX2-related
    • 46,XY sex reversal, CBX2-related
    • SRXY5
    • disorder of sex development, 46,XY, CBX2-related
    • sex reversal, XY, CBX2-related
Mus musculus (house mouse)
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Last updated: December 9, 2024