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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 8351 - 8375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0081384
  • ataxia-telangiectasia-like disorder-1
Homo sapiens (human)
DOID:7004
  • ACTH-secreting pituitary adenoma
  • Aliases:
    • ACTH-Producing Pituitary Adenoma
    • Corticotroph adenoma
    • Corticotropinoma
Homo sapiens (human)
DOID:0070136
  • autosomal dominant cutis laxa 2
  • Aliases:
    • ADCL2
Homo sapiens (human)
DOID:0080653
  • urolithiasis
Homo sapiens (human)
DOID:0080047
  • pseudoachondroplasia
  • Aliases:
    • SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
    • pseudoachondroplastic dysplasia
Homo sapiens (human)
DOID:2231
  • factor XII deficiency
  • Aliases:
    • Factor XII deficiency disease
    • Hageman Factor deficiency
    • deficiency, Hageman
Homo sapiens (human)
DOID:431
  • myofascial pain syndrome
Homo sapiens (human)
DOID:0060732
  • chromosome 9p deletion syndrome
  • Aliases:
    • 9p syndrome
    • Alfi syndrome
    • monosomy 9p syndrome
Homo sapiens (human)
DOID:0060131
  • alexithymia
Homo sapiens (human)
DOID:0112318
  • Schindler disease type 1
  • Aliases:
    • NAGA deficiency type 1
    • alpha-N-acetylgalactosaminidase deficiency type 1
Homo sapiens (human)
DOID:0110923
  • familial hemophagocytic lymphohistiocytosis 3
  • Aliases:
    • FHL3
    • HLH3
    • HPLH3
Homo sapiens (human)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Homo sapiens (human)
DOID:0110340
  • osteogenesis imperfecta type 4
  • Aliases:
    • OI4
    • osteogenesis imperfecta type IV
    • osteogenesis imperfecta with normal sclera
Homo sapiens (human)
DOID:0060703
  • Muenke Syndrome
  • Aliases:
    • FGFR3-related craniosynostosis
Homo sapiens (human)
DOID:3877
  • functional colonic disease
Homo sapiens (human)
DOID:0050457
  • Sertoli cell-only syndrome
  • Aliases:
    • DEL CASTILLO SYNDROME
    • Germinal Cell Aplasia
Homo sapiens (human)
DOID:643
  • progressive multifocal leukoencephalopathy
Homo sapiens (human)
DOID:0081138
  • agammaglobulinemia 6
Homo sapiens (human)
DOID:2977
  • primary hyperoxaluria
Homo sapiens (human)
DOID:0080608
  • anterior segment dysgenesis 3
Homo sapiens (human)
DOID:0110163
  • Charcot-Marie-Tooth disease axonal type 2F
  • Aliases:
    • CMT2F
    • Charcot-Marie-Tooth neuronal type 2F
    • Charcot-Marie-Tooth neuropathy type 2F
    • autosomal dominant Charcot-Marie-Tooth disease type 2F
Homo sapiens (human)
DOID:12053
  • cryptococcosis
  • Aliases:
    • Busse-Buschke's disease
    • European cryptococcosis
    • cryptococcal infection
    • torula
    • torulosis
Homo sapiens (human)
DOID:0070048
  • GAND syndrome
  • Aliases:
    • MRD18
    • autosomal dominant intellectual developmental disorder 18
    • autosomal dominant mental retardation 18
    • autosomal dominant non-syndromic intellectual disability 18
Homo sapiens (human)
DOID:0090050
  • dystonia 27
Homo sapiens (human)
DOID:0111242
  • congenital muscular dystrophy-dystroglycanopathy type A6
  • Aliases:
    • MDDGA6
    • Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024