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 2151 - 2175 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0110721
  • neuronal ceroid lipofuscinosis 1
  • Aliases:
    • CLN1
    • neuronal ceroid lipofuscinosis 1 variable age of onset
Homo sapiens (human)
DOID:0110722
  • neuronal ceroid lipofuscinosis 7
  • Aliases:
    • CLN7
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:0110726
  • neuronal ceroid lipofuscinosis 2
  • Aliases:
    • CLN2
    • neuronal ceroid lipofuscinosis 2 variable age at onset
Homo sapiens (human)
DOID:0110727
  • neuronal ceroid lipofuscinosis 13
  • Aliases:
    • CLN13
    • neuronal ceroid lipofuscinosis 13 Kufs type
Homo sapiens (human)
DOID:0110728
  • neuronal ceroid lipofuscinosis 5
  • Aliases:
    • CLN5
    • neuronal ceroid lipofuscinosis 5 variable age of onset
Homo sapiens (human)
DOID:0110731
  • neuronal ceroid lipofuscinosis 3
  • Aliases:
    • Batten disease
    • CLN3
    • juvenile neuronal ceroid lipofuscinosis
Homo sapiens (human)
DOID:0110732
  • neuronal ceroid lipofuscinosis 11
  • Aliases:
    • CLN11
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Homo sapiens (human)
DOID:0110735
  • neurodegeneration with brain iron accumulation 2a
  • Aliases:
    • INAD1
    • Infantile Neuroaxonal Dystrophy 1
    • NBIA2a
    • Neurodegeneration, Pla2g6-Associated
    • Seitelberger Disease
Homo sapiens (human)
DOID:0110736
  • neurodegeneration with brain iron accumulation 2b
  • Aliases:
    • NBIA2b
    • Neuroaxonal Dystrophy, Atypical
    • Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Homo sapiens (human)
DOID:0110739
  • neurodegeneration with brain iron accumulation 5
  • Aliases:
    • BPAN
    • Beta-Propeller Protein-Associated Neurodegeneration
    • NBIA5
    • SENDA
    • Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Homo sapiens (human)
DOID:0110741
  • type 1 diabetes mellitus 2
  • Aliases:
    • IDDM2
    • Insulin-Dependent Diabetes Mellitus 2
Homo sapiens (human)
DOID:0110749
  • type 1 diabetes mellitus 10
  • Aliases:
    • IDDM10
    • Insulin-Dependent Diabetes Mellitus 10
Homo sapiens (human)
DOID:0110751
  • type 1 diabetes mellitus 12
  • Aliases:
    • IDDM12
    • Insulin-Dependent Diabetes Mellitus 12
Homo sapiens (human)
DOID:0110757
  • type 1 diabetes mellitus 20
  • Aliases:
    • IDDM20
    • Insulin-Dependent Diabetes Mellitus 20
Homo sapiens (human)
DOID:0110759
  • type 1 diabetes mellitus 22
  • Aliases:
    • IDDM22
    • Insulin-Dependent Diabetes Mellitus 22
Homo sapiens (human)
DOID:0110764
  • hereditary spastic paraplegia 11
  • Aliases:
    • HSP-TCC
    • Nakamura-Osame syndrome
    • SPG11
    • autosomal recessive spastic paraplegia 11
    • autosomal recessive spastic paraplegia complicated with thin corpus callosum
    • autosomal recessive spastic paraplegia type 11
    • autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum
    • spastic paraplegia-intellectual disability-thin corpus callosum syndrome
Homo sapiens (human)
DOID:0110765
  • hereditary spastic paraplegia 12
  • Aliases:
    • SPG12
    • autosomal dominant spastic paraplegia 12
    • autosomal dominant spastic paraplegia type 12
Homo sapiens (human)
DOID:0110766
  • hereditary spastic paraplegia 13
  • Aliases:
    • SPG13
    • autosomal dominant spastic paraplegia 13
Homo sapiens (human)
DOID:0110768
  • hereditary spastic paraplegia 15
  • Aliases:
    • Kjellin syndrome
    • SPG15
    • autosomal recessive spastic paraplegia 15
    • autosomal recessive spastic paraplegia type 15
    • hereditary spastic paraparesis type 15
    • spastic paraplegia and retinal degeneration
    • spastic paraplegia-retinal degeneration syndrome
Homo sapiens (human)
DOID:0110770
  • hereditary spastic paraplegia 17
  • Aliases:
    • SPG17
    • Silver spastic paraplegia syndrome
    • Silver syndrome
    • autosomal dominant spastic paraplegia 17
    • autosomal dominant spastic paraplegia type 17
    • dHMN5B
    • distal hereditary motor neuropathy type 5B
    • spastic paraplegia with amyotrophy of hands and feet
    • spastic paraplegia-amyotrophy of hands and feet
Homo sapiens (human)
DOID:0110771
  • hereditary spastic paraplegia 18
  • Aliases:
    • IDMDC
    • SPG18
    • autosomal recessive spastic paraplegia 18
    • autosomal recessive spastic paraplegia type 18
    • intellectual disability, motor dysfunction and joint contractures
Homo sapiens (human)
DOID:0110773
  • hereditary spastic paraplegia 2
  • Aliases:
    • SPG2
    • X-linked spastic paraplegia 2
    • spastic paraplegia type 2
Homo sapiens (human)
DOID:0110774
  • hereditary spastic paraplegia 23
  • Aliases:
    • Lison syndrome
    • SPG23
    • Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
    • spastic paraplegia 23
    • spastic paraplegia with pigmentary abnormalities
Homo sapiens (human)

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Last updated: December 9, 2024