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 10626 - 10650 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0110223
  • Brugada syndrome 6
  • Aliases:
    • BRGDA6
Homo sapiens (human)
DOID:0080686
  • tubular aggregate myopathy 2
Homo sapiens (human)
DOID:11512
  • Budd-Chiari syndrome
  • Aliases:
    • hepatic vein thrombosis
Homo sapiens (human)
DOID:0080376
  • trichorhinophalangeal syndrome type III
  • Aliases:
    • trichorhinophalangeal syndrome type 3
Homo sapiens (human)
DOID:4137
  • common bile duct disease
Homo sapiens (human)
DOID:0110652
  • long QT syndrome 11
  • Aliases:
    • LQT11
Homo sapiens (human)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Homo sapiens (human)
DOID:576
  • proteinuria
Homo sapiens (human)
DOID:0111158
  • SADDAN
  • Aliases:
    • SADDAN dysplasia
    • severe achondroplasia with developmental delay and acanthosis nigricans
Homo sapiens (human)
DOID:13381
  • pernicious anemia
  • Aliases:
    • ANEMIA PERNICIOUS
    • Addison's anaemia
    • Biermer's anaemia
    • Biermer's anemia
    • pernicious anaemia
Homo sapiens (human)
DOID:10128
  • venous insufficiency
  • Aliases:
    • peripheral venous insufficiency
Homo sapiens (human)
DOID:0080626
  • corticosterone methyloxidase deficiency 1
  • Aliases:
    • aldosterone synthase deficiency
Homo sapiens (human)
DOID:14723
  • beta-ketothiolase deficiency
  • Aliases:
    • 2-methyl-3-hydroxybutyricacidemia
    • 3-ketothiolase deficiency
    • 3-oxothiolase deficiency
    • Mitochondrial acetoacetyl-CoA Thiolase deficiency
    • alpha-methylacetoaceticaciduria
    • peroxisomal thiolase deficiency
Homo sapiens (human)
DOID:0111723
  • Jacobsen Syndrome
  • Aliases:
    • Jacobsen distal 11q deletion syndrome
    • chromosome 11q deletion syndrome
    • partial 11q monosomy syndrome
Homo sapiens (human)
DOID:9155
  • mucocutaneous leishmaniasis
  • Aliases:
    • American cutaneous leishmaniasis
    • American mucocutaneous leishmaniasis
    • Cutaneous leishmaniasis, American
    • Mucocutaneous leishmaniasis, American
    • New World cutaneous leishmaniasis
Homo sapiens (human)
DOID:0060272
  • pontocerebellar hypoplasia type 3
Homo sapiens (human)
DOID:0060280
  • primary pigmented nodular adrenocortical disease
Homo sapiens (human)
DOID:2450
  • central retinal vein occlusion
Homo sapiens (human)
DOID:2842
  • Jervell-Lange Nielsen syndrome
  • Aliases:
    • Jervell and Lange-Nielson syndrome
Homo sapiens (human)
DOID:0080348
  • Alzheimer's disease 1
  • Aliases:
    • Alzheimer's disease 1, early onset
Homo sapiens (human)
DOID:0060656
  • autosomal recessive congenital ichthyosis 1
  • Aliases:
    • ARCI1
Homo sapiens (human)
DOID:9588
  • encephalitis
Homo sapiens (human)
DOID:0111298
  • familial febrile seizures 8
  • Aliases:
    • FEB8
    • familial febrile convulsions 8
Homo sapiens (human)
DOID:5593
  • gastric papillary adenocarcinoma
  • Aliases:
    • Papillary adenocarcinoma of stomach
Homo sapiens (human)
DOID:0110726
  • neuronal ceroid lipofuscinosis 2
  • Aliases:
    • CLN2
    • neuronal ceroid lipofuscinosis 2 variable age at onset
Homo sapiens (human)

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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