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 5326 - 5350 of 7942 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0110735
  • neurodegeneration with brain iron accumulation 2a
  • Aliases:
    • INAD1
    • Infantile Neuroaxonal Dystrophy 1
    • NBIA2a
    • Neurodegeneration, Pla2g6-Associated
    • Seitelberger Disease
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Homo sapiens (human)
DOID:0110733
  • neuronal ceroid lipofuscinosis 9
  • Aliases:
    • CLN9
Homo sapiens (human)
DOID:0110732
  • neuronal ceroid lipofuscinosis 11
  • Aliases:
    • CLN11
Homo sapiens (human)
DOID:0110731
  • neuronal ceroid lipofuscinosis 3
  • Aliases:
    • Batten disease
    • CLN3
    • juvenile neuronal ceroid lipofuscinosis
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:0110729
  • neuronal ceroid lipofuscinosis 6A
  • Aliases:
    • CLN6
    • neuronal ceroid lipofuscinosis 6
    • neuronal ceroid lipofuscinosis 6 variable age of onset
Homo sapiens (human)
DOID:0110728
  • neuronal ceroid lipofuscinosis 5
  • Aliases:
    • CLN5
    • neuronal ceroid lipofuscinosis 5 variable age of onset
Mus musculus (house mouse)
DOID:0110728
  • neuronal ceroid lipofuscinosis 5
  • Aliases:
    • CLN5
    • neuronal ceroid lipofuscinosis 5 variable age of onset
Homo sapiens (human)
DOID:0110727
  • neuronal ceroid lipofuscinosis 13
  • Aliases:
    • CLN13
    • neuronal ceroid lipofuscinosis 13 Kufs type
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: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:0110723
  • neuronal ceroid lipofuscinosis 8
  • Aliases:
    • CLN8
Homo sapiens (human)
DOID:0110722
  • neuronal ceroid lipofuscinosis 7
  • Aliases:
    • CLN7
Homo sapiens (human)
DOID:0110721
  • neuronal ceroid lipofuscinosis 1
  • Aliases:
    • CLN1
    • neuronal ceroid lipofuscinosis 1 variable age of onset
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:0110719
  • Warburg micro syndrome 4
  • Aliases:
    • Micro Syndrome 4
    • WARBM4
Homo sapiens (human)
DOID:0110718
  • Warburg micro syndrome 3
  • Aliases:
    • Micro Syndrome 3
    • WARBM3
Homo sapiens (human)
DOID:0110717
  • Warburg micro syndrome 2
  • Aliases:
    • Micro Syndrome 2
    • WARBM2
Homo sapiens (human)
DOID:0110716
  • Warburg micro syndrome 1
  • Aliases:
    • Micro Syndrome 1
    • WARBM1
Homo sapiens (human)
DOID:0110704
  • hypotrichosis 7
  • Aliases:
    • Hypt7
    • Lah2
    • hypotrichosis, localized, autosomal recessive 2
    • total Mari type hypotrichosis,
Homo sapiens (human)
DOID:0110698
  • hypotrichosis 1
  • Aliases:
    • Hhs
    • Hts
    • Hypt1
    • hereditary generalized hypotrichosis simplex
Homo sapiens (human)
DOID:0110679
  • congenital myasthenic syndrome 4C
  • Aliases:
    • CMS Id
    • CMS1D
    • CMS4C
    • FIM1
    • congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
    • congenital myasthenic syndrome type Id
    • familial infantile myasthenia 1
Homo sapiens (human)
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Homo sapiens (human)

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Last updated: August 19, 2024