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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 5826 - 5850 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0111041
  • glycogen storage disease IXb
  • Aliases:
    • GSD IXb
    • GSD due to liver and muscle phosphorylase kinase deficiency
    • GSD type 9B
    • GSD type IXb
    • GSD9B
    • glycogen storage disease type 9B
    • glycogen storage disease type IXb
    • glycogenosis due to liver and muscle phosphorylase kinase deficiency
    • glycogenosis type 9B
    • glycogenosis type IXb
Mus musculus (house mouse)
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Mus musculus (house mouse)
DOID:0111040
  • glycogen storage disease IXd
  • Aliases:
    • GSD IXd
    • GSD due to muscle phosphorylase kinase deficiency
    • GSD type 9D
    • GSD type 9E
    • GSD type IXd
    • GSD type IXe
    • GSD9D
    • X-linked muscke glycogenosis
    • glycogen storage disease due to muscle phosphorylase kinase deficiency
    • glycogen storage disease type 9D
    • glycogen storage disease type 9E
    • glycogen storage disease type IXd
    • glycogen storage disease type IXe
    • glycogenosis due to muscle phosphorylase kinase deficiency
    • glycogenosis type 9D
    • glycogenosis type 9E
    • glycogenosis type IXd
    • glycogenosis type IXe
    • muscle phosphorylase kinase deficiency
Mus musculus (house mouse)
DOID:0060812
  • syndromic X-linked intellectual disability Siderius type
  • Aliases:
    • MRXSSD
    • Siderius X-linked mental retardation syndrome
    • Siderius-Hamel syndrome
    • mental retardation syndrome, X-linked, Siderius type
Mus musculus (house mouse)
DOID:0070287
  • primary autosomal recessive microcephaly 11
  • Aliases:
    • MCPH11
Mus musculus (house mouse)
DOID:0112206
  • developmental and epileptic encephalopathy 70
  • Aliases:
    • DEE70
    • early infantile epileptic encephalopathy 70
Mus musculus (house mouse)
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:0080570
  • congenital disorder of glycosylation It
  • Aliases:
    • congenital disorder of glycosylation 1t
Mus musculus (house mouse)
DOID:0080570
  • congenital disorder of glycosylation It
  • Aliases:
    • congenital disorder of glycosylation 1t
Drosophila melanogaster (fruit fly)
DOID:3307
  • teratoma
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
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
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
Drosophila melanogaster (fruit fly)
DOID:583
  • hemolytic anemia
  • Aliases:
    • ANEMIA HEMOLYTIC
Drosophila melanogaster (fruit fly)
DOID:589
  • congenital hemolytic anemia
  • Aliases:
    • congenital hemolytic anaemia
    • hereditary hemolytic anaemia
    • hereditary hemolytic anemia
Drosophila melanogaster (fruit fly)
DOID:440
  • neuromuscular disease
Drosophila melanogaster (fruit fly)
DOID:114
  • heart disease
Drosophila melanogaster (fruit fly)
DOID:4977
  • lymphedema
  • Aliases:
    • Lymphatic edema
    • Lymphoedema
Rattus norvegicus (Norway rat)
DOID:1798
  • pancreatic endocrine carcinoma
  • Aliases:
    • Islet cell carcinoma
    • carcinoma of endocrine pancreas
    • malignant neoplasm of islets of Langerhans
    • pancreatic neuroendocrine carcinoma
Rattus norvegicus (Norway rat)
DOID:1798
  • pancreatic endocrine carcinoma
  • Aliases:
    • Islet cell carcinoma
    • carcinoma of endocrine pancreas
    • malignant neoplasm of islets of Langerhans
    • pancreatic neuroendocrine carcinoma
Mus musculus (house mouse)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Mus musculus (house mouse)
DOID:4621
  • holoprosencephaly
  • Aliases:
    • Holoprosencephaly sequence
Rattus norvegicus (Norway rat)
DOID:4621
  • holoprosencephaly
  • Aliases:
    • Holoprosencephaly sequence
Mus musculus (house mouse)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Drosophila melanogaster (fruit fly)
DOID:0080108
  • myoglobinuria
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024