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 10126 - 10150 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
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:0112206
  • developmental and epileptic encephalopathy 70
  • Aliases:
    • DEE70
    • early infantile epileptic encephalopathy 70
Mus musculus (house mouse)
DOID:0070287
  • primary autosomal recessive microcephaly 11
  • Aliases:
    • MCPH11
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: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: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: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:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Rattus norvegicus (Norway rat)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Mus musculus (house mouse)
DOID:0112347
  • hereditary spastic paraplegia 84
  • Aliases:
    • SPG84
    • spastic paraplegia 84 autosomal recessive
Mus musculus (house mouse)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Mus musculus (house mouse)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Rattus norvegicus (Norway rat)
DOID:0111608
  • distal arthrogryposis type 5
  • Aliases:
    • DA5
    • DAIIB
    • arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
    • distal arthrogryposis type IIB
    • distal arthrogryposis with ophthalmoplegia
    • oculomelic amyoplasia
Mus musculus (house mouse)
DOID:0111607
  • distal arthrogryposis type 3
  • Aliases:
    • DA3
    • Gordon syndrome
    • camptodactyly-cleft palate-clubfoot syndrome
    • distal arthrogryposis multiplex congenita type IIA
Mus musculus (house mouse)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Mus musculus (house mouse)
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Rattus norvegicus (Norway rat)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Rattus norvegicus (Norway rat)
DOID:10112
  • sleeping sickness
  • Aliases:
    • African sleeping sickness
    • African trypanosomiasis
Rattus norvegicus (Norway rat)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Rattus norvegicus (Norway rat)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Mus musculus (house mouse)
DOID:0080283
  • developmental and epileptic encephalopathy 55
  • Aliases:
    • DEE55
    • GPIBD14
    • early infantile epileptic encephalopathy 55
    • glycosylphosphatidylinositol biosynthesis defect 14
Mus musculus (house mouse)
DOID:0070382
  • developmental and epileptic encephalopathy 95
  • Aliases:
    • DEE95
    • early infantile epileptic encephalopathy 95
Mus musculus (house mouse)
DOID:0070382
  • developmental and epileptic encephalopathy 95
  • Aliases:
    • DEE95
    • early infantile epileptic encephalopathy 95
Rattus norvegicus (Norway rat)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Mus musculus (house mouse)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Mus musculus (house mouse)

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Last updated: December 9, 2024