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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 3601 - 3625 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Saccharomyces cerevisiae S288C
DOID:11702
  • dysgammaglobulinemia
Saccharomyces cerevisiae S288C
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:0110923
  • familial hemophagocytic lymphohistiocytosis 3
  • Aliases:
    • FHL3
    • HLH3
    • HPLH3
Homo sapiens (human)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Homo sapiens (human)
DOID:2739
  • Gilbert syndrome
  • Aliases:
    • Constitutional hyperbilirubinemia
    • Gilbert's disease
    • Gilbert's syndrome
    • Gilbert-Meulengracht syndrome
    • hereditary nonhemolytic jaundice
Homo sapiens (human)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Homo sapiens (human)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Saccharomyces cerevisiae S288C
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:0070474
  • childhood-onset neurodegeneration with brain atrophy
  • Aliases:
    • CONDBA
    • childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Homo sapiens (human)
DOID:14694
  • Johanson-Blizzard syndrome
  • Aliases:
    • JBS
Homo sapiens (human)
DOID:0060206
  • amyotrophic lateral sclerosis type 15
  • Aliases:
    • ALS15
    • amyotrophic lateral sclerosis 15
    • amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Homo sapiens (human)
DOID:7004
  • ACTH-secreting pituitary adenoma
  • Aliases:
    • ACTH-Producing Pituitary Adenoma
    • Corticotroph adenoma
    • Corticotropinoma
Saccharomyces cerevisiae S288C
DOID:0112341
  • hereditary spastic paraplegia 80
  • Aliases:
    • SPG80
    • spastic paraplegia 80 autosomal dominant
Homo sapiens (human)
DOID:0080828
  • VEXAS syndrome
  • Aliases:
    • vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
Homo sapiens (human)
DOID:0111827
  • X-linked spinal muscular atrophy 2
  • Aliases:
    • SMAX2
    • X-linked distal arthrogryposis multiplex congenita
    • X-linked spinal muscular atrophy type 2
    • infantile-onset X-linked spinal muscular atrophy
    • spinal muscular atrophy with arthrogryposis
Homo sapiens (human)
DOID:0060933
  • developmental delay, dysmorphic facies, and brain anomalies
  • Aliases:
    • DEVDFB
Mus musculus (house mouse)
DOID:0060933
  • developmental delay, dysmorphic facies, and brain anomalies
  • Aliases:
    • DEVDFB
Homo sapiens (human)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Mus musculus (house mouse)
DOID:8465
  • retinoschisis
Mus musculus (house mouse)
DOID:11211
  • buphthalmos
  • Aliases:
    • primary congenital glaucoma 3A
    • simple buphthalmos
Mus musculus (house mouse)
DOID:0070094
  • oculocutaneous albinism type IA
  • Aliases:
    • OCA1A
    • Oculocutaneous Albinism, Tyrosinase-Negative
Mus musculus (house mouse)
DOID:0070095
  • oculocutaneous albinism type IB
  • Aliases:
    • Albinism, Yellow Mutant Type
    • OCA1B
Mus musculus (house mouse)
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Mus musculus (house mouse)
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024