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 3126 - 3150 of 7942 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0111865
  • MEND syndrome
  • Aliases:
    • male EBP disorder with neurological defects
Homo sapiens (human)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Rattus norvegicus (Norway rat)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Homo sapiens (human)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Mus musculus (house mouse)
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Saccharomyces cerevisiae S288C
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Drosophila melanogaster (fruit fly)
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Homo sapiens (human)
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Rattus norvegicus (Norway rat)
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Caenorhabditis elegans
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Mus musculus (house mouse)
DOID:0111936
  • immunodeficiency 14
  • Aliases:
    • APDS
    • IMD14
    • PASLI disease
    • activated PI3K-delta syndrome
    • senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Homo sapiens (human)
DOID:0111949
  • immunodeficiency 36
  • Aliases:
    • IMD36
    • activated phosphoinositide 3-kinase delta syndrome 2
Mus musculus (house mouse)
DOID:0111949
  • immunodeficiency 36
  • Aliases:
    • IMD36
    • activated phosphoinositide 3-kinase delta syndrome 2
Rattus norvegicus (Norway rat)
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Homo sapiens (human)
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Saccharomyces cerevisiae S288C
DOID:0111953
  • immunodeficiency 23
  • Aliases:
    • CID due to PGM3 deficiency
    • IMD23
    • PGM3-CDG
    • PGM3-related congenital disorder of glycosylation
    • combined immunodeficiency due to PGM3 deficiency
Mus musculus (house mouse)
DOID:0112002
  • immunodeficiency 47
  • Aliases:
    • CDG IIs
    • CDG2S
    • CDGIIs
    • IMD47
    • congenital disorder of glycosylation type IIs
    • immunodeficiency and hepatopathy with or without neurologic features
Homo sapiens (human)
DOID:0112022
  • non-syndromic X-linked intellectual disability 21
  • Aliases:
    • MRX21
    • MRX34
    • X-linked mental retardation 21
    • X-linked mental retardation 21/34
    • X-linked mental retardation 34
Danio rerio (zebrafish)
DOID:0112022
  • non-syndromic X-linked intellectual disability 21
  • Aliases:
    • MRX21
    • MRX34
    • X-linked mental retardation 21
    • X-linked mental retardation 21/34
    • X-linked mental retardation 34
Homo sapiens (human)
DOID:0112022
  • non-syndromic X-linked intellectual disability 21
  • Aliases:
    • MRX21
    • MRX34
    • X-linked mental retardation 21
    • X-linked mental retardation 21/34
    • X-linked mental retardation 34
Rattus norvegicus (Norway rat)
DOID:0112050
  • non-syndromic X-linked intellectual disability 63
  • Aliases:
    • ACSL4-related intellectual disability
    • MRX63
    • MRX68
    • X-linked mental retardation 63
    • X-linked mental retardation 68
Homo sapiens (human)
DOID:0112072
  • nuclear type mitochondrial complex I deficiency 20
  • Aliases:
    • ACAD9 deficiency
    • Acyl-CoA dehydrogenase 9 deficiency
    • MC1DN20
    • mitochondrial complex 1 deficiency due to ACAD9 deficiency
Homo sapiens (human)
DOID:0112105
  • X-linked parkinsonism-spasticity syndrome
  • Aliases:
    • X-linked Parkinsonism with spasticity
    • XPDS
Drosophila melanogaster (fruit fly)
DOID:0112105
  • X-linked parkinsonism-spasticity syndrome
  • Aliases:
    • X-linked Parkinsonism with spasticity
    • XPDS
Homo sapiens (human)

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Last updated: August 19, 2024