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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 26 - 50 of 4115 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0050427
  • xeroderma pigmentosum
Homo sapiens (human)
DOID:0050430
  • multiple endocrine neoplasia type 2A
  • Aliases:
    • MEN2A
    • Sipple syndrome
    • multiple endocrine neoplasia II
Homo sapiens (human)
DOID:0050431
  • arrhythmogenic right ventricular cardiomyopathy
  • Aliases:
    • ARVC
    • ARVC cardiomyopathy
    • ARVD
    • arrhythmogenic right ventricular dysplasia
    • arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • right ventricular ACM
Homo sapiens (human)
DOID:0050432
  • Asperger syndrome
Homo sapiens (human)
DOID:0050433
  • fatal familial insomnia
Homo sapiens (human)
DOID:0050436
  • mulibrey nanism
  • Aliases:
    • MUL
    • Mulibrey growth disorder
    • Muscle-Liver-Brain-Eye Nanism
    • PERICARDIAL CONSTRICTION AND GROWTH FAILURE
    • Perheentupa Syndrome
Homo sapiens (human)
DOID:0050437
  • Danon disease
  • Aliases:
    • ANTOPOL DISEASE
    • PSEUDOGLYCOGENOSIS II
Homo sapiens (human)
DOID:0050439
  • Usher syndrome
Homo sapiens (human)
DOID:0050440
  • familial partial lipodystrophy
  • Aliases:
    • Dunnigan Syndrome
    • Koberling-Dunnigan Syndrome
Homo sapiens (human)
DOID:0050441
  • mucosulfatidosis
  • Aliases:
    • Sulfatidosis, Juvenile, Austin Type
    • multiple sulfatase deficiency disease
Homo sapiens (human)
DOID:0050445
  • X-linked hypophosphatemic rickets
  • Aliases:
    • Hypophosphatemia, Vitamin D-Resistant Rickets
    • Vitamin D-Resistant Rickets, X-Linked
    • X-linked dominant hypophosphatemic rickets
    • X-linked hypophosphatemia
    • hypophosphatemic rickets X-linked dominant
Homo sapiens (human)
DOID:0050449
  • pachyonychia congenita
  • Aliases:
    • Jackson-Lawler Type Pachyonychia Congenita
    • Jadassohn-Lewandowsky Syndrome
    • PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
    • Pachyonychia Congenita Type 1
Homo sapiens (human)
DOID:0050450
  • Gitelman syndrome
  • Aliases:
    • HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Homo sapiens (human)
DOID:0050452
  • mevalonic aciduria
  • Aliases:
    • Mevalonate Kinase Deficiency
Homo sapiens (human)
DOID:0050453
  • lissencephaly
Homo sapiens (human)
DOID:0050454
  • periventricular nodular heterotopia
  • Aliases:
    • periventricular heterotopia
Homo sapiens (human)
DOID:0050456
  • Buruli ulcer disease
  • Aliases:
    • Bairnsdale ulcer
    • Daintree ulcer
    • Mossman ulcer
    • Searl ulcer
    • Searle's ulcer
Homo sapiens (human)
DOID:0050458
  • juvenile myelomonocytic leukemia
Homo sapiens (human)
DOID:0050461
  • aspartylglucosaminuria
  • Aliases:
    • aspartylglucosaminidase deficiency
    • aspartylglycosaminuria
    • glycosylasparaginase deficiency
Homo sapiens (human)
DOID:0050462
  • Antley-Bixler syndrome with disordered steroidogenesis
  • Aliases:
    • trapezoidocephaly-synostosis syndrome
Homo sapiens (human)
DOID:0050463
  • campomelic dysplasia
  • Aliases:
    • Acampomelic Campomelic Dysplasia
Homo sapiens (human)
DOID:0050464
  • Farber lipogranulomatosis
  • Aliases:
    • Farber disease
    • N-laurylsphingosine deacylase deficiency
    • acid ceramidase deficiency
Homo sapiens (human)
DOID:0050465
  • Muir-Torre syndrome
Homo sapiens (human)
DOID:0050469
  • Costello syndrome
  • Aliases:
    • FCS SYNDROME
    • Faciocutaneoskeletal Syndrome
Homo sapiens (human)
DOID:0050470
  • Donohue syndrome
  • Aliases:
    • Leprechaunism
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: April 7, 2025