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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 8951 - 8975 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0080715
  • developmental and epileptic encephalopathy 82
  • Aliases:
    • DEE82
    • early infantile epileptic encephalopathy 82
Rattus norvegicus (Norway rat)
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Rattus norvegicus (Norway rat)
DOID:0111266
  • geroderma osteodysplasticum
  • Aliases:
    • GO
    • Walt Disney dwarfism
    • geroderma osteodysplastica
    • gerodermia osteodysplastica
Mus musculus (house mouse)
DOID:0111402
  • mucopolysaccharidosis type IIID
  • Aliases:
    • GNS deficiency
    • MPS IIID
    • MPS3D
    • Mucopolysaccharidosis type 3D
    • N-acetylglucosamine-6-sulfatase deficiency
    • Sanfilippo syndrome D
    • Sanfilippo syndrome type D
Mus musculus (house mouse)
DOID:12801
  • mucopolysaccharidosis III
  • Aliases:
    • Mucopolysaccharidosis, MPS-III
    • N-sulphoglucosamine sulphohydrolase deficiency
    • Sanfilippo's syndrome
    • heparan sulfate sulfatase deficiency
Mus musculus (house mouse)
DOID:0080678
  • mucolipidosis III gamma
Mus musculus (house mouse)
DOID:3343
  • glycoproteinosis
  • Aliases:
    • Mucolipidosis type I
    • sialidosis
Mus musculus (house mouse)
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Mus musculus (house mouse)
DOID:0080071
  • mucolipidosis III alpha/beta
  • Aliases:
    • mucolipidosis III
    • pseudo-Hurler polydystrophy
Mus musculus (house mouse)
DOID:0080488
  • mucolipidosis
Mus musculus (house mouse)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Rattus norvegicus (Norway rat)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Mus musculus (house mouse)
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Mus musculus (house mouse)
DOID:3659
  • sialuria
Mus musculus (house mouse)
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Rattus norvegicus (Norway rat)
DOID:3659
  • sialuria
Rattus norvegicus (Norway rat)
DOID:0070072
  • autosomal dominant intellectual developmental disorder 42
  • Aliases:
    • MRD42
    • autosomal dominant mental retardation 42
    • autosomal dominant non-syndromic intellectual disability 42
Mus musculus (house mouse)
DOID:0080222
  • pseudohypoparathyroidism type IB
Mus musculus (house mouse)
DOID:4184
  • pseudohypoparathyroidism
Mus musculus (house mouse)
DOID:0112010
  • pituitary adenoma 3
  • Aliases:
    • PITA3
    • pituitary adenoma 3, multiple types
Mus musculus (house mouse)
DOID:0111623
  • ACTH-independent macronodular adrenal hyperplasia 1
  • Aliases:
    • AIMAH1
Mus musculus (house mouse)
DOID:0080053
  • Albright's hereditary osteodystrophy
  • Aliases:
    • Albright hereditary osteodystrophy
    • pseudohypoparathyroidism type 1a
Mus musculus (house mouse)
DOID:4183
  • pseudopseudohypoparathyroidism
  • Aliases:
    • Normocalcemic pseudohypoparathyroidism
Mus musculus (house mouse)
DOID:0080450
  • developmental and epileptic encephalopathy 17
  • Aliases:
    • DEE17
    • early infantile epileptic encephalopathy 17
Mus musculus (house mouse)
DOID:0112276
  • neurodevelopmental disorder with involuntary movements
  • Aliases:
    • NEDIM
Mus musculus (house mouse)
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Last updated: December 9, 2024