GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1751 - 1775 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:0110914
  • infantile hypophosphatasia
  • Aliases:
    • Hops
    • phosphoethanolaminuria
Homo sapiens (human)
DOID:11726
  • Emery-Dreifuss muscular dystrophy
  • Aliases:
    • EDMD
Homo sapiens (human)
DOID:0110194
  • Charcot-Marie-Tooth disease type 4B3
  • Aliases:
    • CMT4B3
Homo sapiens (human)
DOID:0110562
  • autosomal dominant nonsyndromic deafness 33
  • Aliases:
    • DFNA33
    • autosomal dominant deafness 33
Homo sapiens (human)
DOID:12028
  • Conn's syndrome
  • Aliases:
    • Conn syndrome
    • primary aldosteronism
Homo sapiens (human)
DOID:9699
  • ophthalmia neonatorum
  • Aliases:
    • Gonococcal conjunctivitis
    • Gonococcal ophthalmia neonatorum
    • Neonatal conjunctivitis
Homo sapiens (human)
DOID:5709
  • mixed-type liposarcoma
Homo sapiens (human)
DOID:0110730
  • neuronal ceroid lipofuscinosis 6B
  • Aliases:
    • CLN4A
    • autosomal recessive neuronal ceroid lipofuscinosis 4A
    • neuronal ceroid lipofuscinosis 4A
Homo sapiens (human)
DOID:0110557
  • autosomal dominant nonsyndromic deafness 28
  • Aliases:
    • DFNA28
    • autosomal dominant deafness 28
Homo sapiens (human)
DOID:3137
  • obsolete multiple symmetrical lipomatosis
Homo sapiens (human)
DOID:0111234
  • congenital muscular dystrophy-dystroglycanopathy A7
  • Aliases:
    • MDDGA7
    • Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
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:1591
  • renovascular hypertension
Homo sapiens (human)
DOID:0050477
  • Liddle syndrome
  • Aliases:
    • Liddle's syndrome
    • Pseudoaldosteronism
Homo sapiens (human)
DOID:0050452
  • mevalonic aciduria
  • Aliases:
    • Mevalonate Kinase Deficiency
Homo sapiens (human)
DOID:0050590
  • severe congenital neutropenia
Homo sapiens (human)
DOID:0110269
  • cataract 3 multiple types
  • Aliases:
    • CTRCT3
    • cataract 3 multiple types with or without microcornea
Homo sapiens (human)
DOID:11394
  • adult respiratory distress syndrome
  • Aliases:
    • ARDS
    • Non-cardiogenic pulmonary edema
    • Shock lung
    • acute respiratory distress syndrome
    • adult RDS
Homo sapiens (human)
DOID:5826
  • breast lymphoma
  • Aliases:
    • Lymphoma of the breast
    • lymphoma of breast
    • malignant lymphoma of breast
Homo sapiens (human)
DOID:859
  • holocarboxylase synthetase deficiency
  • Aliases:
    • Biotin-(propionyl-CoA-carboxylase) ligase deficiency
    • Multiple carboxylase deficiency - neonatal onset
Homo sapiens (human)
DOID:2450
  • central retinal vein occlusion
Homo sapiens (human)
DOID:0050747
  • obsolete lymphoplasmacytic lymphoma
Homo sapiens (human)
DOID:350
  • mastocytosis
  • Aliases:
    • mast cell hyperplasia
Homo sapiens (human)
DOID:0111012
  • cone-rod dystrophy 7
  • Aliases:
    • CORD7
Homo sapiens (human)
DOID:13544
  • low tension glaucoma
  • Aliases:
    • Normal tension glaucoma
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: August 19, 2024