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 5476 - 5500 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:3322
  • GM1 gangliosidosis
  • Aliases:
    • Beta-galactosidase deficiency
    • deficiency of beta-galactosidase
    • gangliosidosis GM1
Mus musculus (house mouse)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Mus musculus (house mouse)
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Mus musculus (house mouse)
DOID:12804
  • mucopolysaccharidosis IV
  • Aliases:
    • Mucopolysaccharidosis, MPS-IV
    • deficiency of N-acetylgalactosamine-6-sulphatase
    • deficiency of chondroitinsulphatase
    • galactosamine-6-sulfatase deficiency
Mus musculus (house mouse)
DOID:0080502
  • GM1 gangliosidosis type 1
Mus musculus (house mouse)
DOID:310
  • MERRF syndrome
  • Aliases:
    • Fukuhara syndrome
    • Myoclonic epilepsy - ragged red fibers
    • Myoclonus epilepsy AND ragged red fibers
    • Myoclonus with epilepsy and with Ragged Red Fibers
Homo sapiens (human)
DOID:0110722
  • neuronal ceroid lipofuscinosis 7
  • Aliases:
    • CLN7
Homo sapiens (human)
DOID:0110732
  • neuronal ceroid lipofuscinosis 11
  • Aliases:
    • CLN11
Homo sapiens (human)
DOID:0110720
  • neuronal ceroid lipofuscinosis 4
  • Aliases:
    • CLN4B disease
    • autosomal dominant neuronal ceroid lipofuscinosis 4B
    • neuronal ceroid lipofuscinosis 4 Parry type
    • neuronal ceroid lipofuscinosis 4B
Homo sapiens (human)
DOID:0110727
  • neuronal ceroid lipofuscinosis 13
  • Aliases:
    • CLN13
    • neuronal ceroid lipofuscinosis 13 Kufs type
Homo sapiens (human)
DOID:0110730
  • neuronal ceroid lipofuscinosis 6B
  • Aliases:
    • CLN4A
    • autosomal recessive neuronal ceroid lipofuscinosis 4A
    • neuronal ceroid lipofuscinosis 4A
Homo sapiens (human)
DOID:0110731
  • neuronal ceroid lipofuscinosis 3
  • Aliases:
    • Batten disease
    • CLN3
    • juvenile neuronal ceroid lipofuscinosis
Homo sapiens (human)
DOID:0110724
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant
  • Aliases:
    • EPMR
    • northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant
    • progressive epilepsy with mental retardation, northern epilepsy
    • progressive epilepsy-intellectual disability syndrome, Finnish type
Homo sapiens (human)
DOID:0110728
  • neuronal ceroid lipofuscinosis 5
  • Aliases:
    • CLN5
    • neuronal ceroid lipofuscinosis 5 variable age of onset
Homo sapiens (human)
DOID:0110733
  • neuronal ceroid lipofuscinosis 9
  • Aliases:
    • CLN9
Homo sapiens (human)
DOID:0110726
  • neuronal ceroid lipofuscinosis 2
  • Aliases:
    • CLN2
    • neuronal ceroid lipofuscinosis 2 variable age at onset
Homo sapiens (human)
DOID:0110725
  • neuronal ceroid lipofuscinosis 10
  • Aliases:
    • CLN10
    • Cathepsin D deficiency
    • neuronal ceroid lipofuscinosis cathepsin D-deficient
    • neuronal ceroid lipofuscinosis due to cathepsin D deficiency
Homo sapiens (human)
DOID:0110723
  • neuronal ceroid lipofuscinosis 8
  • Aliases:
    • CLN8
Homo sapiens (human)
DOID:0110729
  • neuronal ceroid lipofuscinosis 6A
  • Aliases:
    • CLN6
    • neuronal ceroid lipofuscinosis 6
    • neuronal ceroid lipofuscinosis 6 variable age of onset
Homo sapiens (human)
DOID:14503
  • neuronal ceroid lipofuscinosis
  • Aliases:
    • hereditary ceroid lipofuscinosis
Homo sapiens (human)
DOID:0110721
  • neuronal ceroid lipofuscinosis 1
  • Aliases:
    • CLN1
    • neuronal ceroid lipofuscinosis 1 variable age of onset
Homo sapiens (human)
DOID:0080887
  • vitamin D-dependent rickets type 1B
Homo sapiens (human)
DOID:1002
  • endometritis
Homo sapiens (human)
DOID:4248
  • coronary stenosis
  • Aliases:
    • Coronary artery stenosis
Homo sapiens (human)
DOID:693
  • dental enamel hypoplasia
  • Aliases:
    • enamel hypoplasia
Homo sapiens (human)

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Last updated: August 19, 2024