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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 7026 - 7050 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:1255
  • trichostrongyloidiasis
Homo sapiens (human)
DOID:9955
  • hypoplastic left heart syndrome
Homo sapiens (human)
DOID:0112012
  • X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
  • Aliases:
    • OLMSX
    • X-linked Olmsted syndrome
Mus musculus (house mouse)
DOID:0111847
  • osteogenesis imperfecta type 19
  • Aliases:
    • OI19
    • osteogenesis imperfecta type XIX
Mus musculus (house mouse)
DOID:0080754
  • X-linked keratosis follicularis spinulosa decalvans
Mus musculus (house mouse)
DOID:0111821
  • ichthyosis follicularis-alopecia-photophobia syndrome 1
  • Aliases:
    • IFAP syndrome 1
    • IFAP syndrome 1 with or without BRESHECK syndrome
    • ichthyosis follicularis-atrichia-photophobia syndrome 1
Mus musculus (house mouse)
DOID:0090057
  • X-linked dystonia-parkinsonism
Mus musculus (house mouse)
DOID:0060309
  • syndromic X-linked intellectual disability
  • Aliases:
    • syndromic X-linked mental retardation
Mus musculus (house mouse)
DOID:0110895
  • inflammatory bowel disease 14
  • Aliases:
    • IBD14
Mus musculus (house mouse)
DOID:0081003
  • Cowden syndrome 7
Mus musculus (house mouse)
DOID:0080356
  • IgG4-related disease
Homo sapiens (human)
DOID:0111983
  • immunodeficiency 52
  • Aliases:
    • IMD52
    • severe combined immunodeficiency due to LAT deficiency
Homo sapiens (human)
DOID:0110859
  • polycystic kidney disease 2
  • Aliases:
    • Apkd2
    • Pkd2
    • Polycystic Kidney Disease, Adult, Type II
Homo sapiens (human)
DOID:0060259
  • renal-hepatic-pancreatic dysplasia
  • Aliases:
    • Ivemark's syndrome
Homo sapiens (human)
DOID:0111114
  • nephronophthisis 3
  • Aliases:
    • NPH3
    • NPHP3
Homo sapiens (human)
DOID:0070121
  • Meckel syndrome 7
  • Aliases:
    • MKS7
    • Meckel-Gruber syndrome, type 7
Homo sapiens (human)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Mus musculus (house mouse)
DOID:12801
  • mucopolysaccharidosis III
  • Aliases:
    • Mucopolysaccharidosis, MPS-III
    • N-sulphoglucosamine sulphohydrolase deficiency
    • Sanfilippo's syndrome
    • heparan sulfate sulfatase deficiency
Mus musculus (house mouse)
DOID:14159
  • obstructive hydrocephalus
Mus musculus (house mouse)
DOID:0081156
  • common variable immunodeficiency 14
Mus musculus (house mouse)
DOID:4231
  • histiocytoma
Mus musculus (house mouse)
DOID:0080430
  • developmental and epileptic encephalopathy 65
  • Aliases:
    • DEE65
    • early infantile epileptic encephalopathy 65
Homo sapiens (human)
DOID:0080005
  • bone remodeling disease
Mus musculus (house mouse)
DOID:0111352
  • D-2-hydroxyglutaric aciduria 2
  • Aliases:
    • D2HGA2
Mus musculus (house mouse)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Mus musculus (house mouse)
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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