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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 11126 - 11150 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Rattus norvegicus (Norway rat)
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Mus musculus (house mouse)
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Homo sapiens (human)
DOID:14702
  • branchiootorenal syndrome
  • Aliases:
    • Branchio-Oto-renal syndrome
    • Branchio-otorenal dysplasia
    • Melnick-Fraser syndrome
    • branchiootorenal dysplasia
Homo sapiens (human)
DOID:14702
  • branchiootorenal syndrome
  • Aliases:
    • Branchio-Oto-renal syndrome
    • Branchio-otorenal dysplasia
    • Melnick-Fraser syndrome
    • branchiootorenal dysplasia
Mus musculus (house mouse)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Rattus norvegicus (Norway rat)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Mus musculus (house mouse)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Xenopus tropicalis (tropical clawed frog)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Homo sapiens (human)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Danio rerio (zebrafish)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Drosophila melanogaster (fruit fly)
DOID:14705
  • Pfeiffer syndrome
  • Aliases:
    • acrocephalosyndactylia type V
Xenopus laevis (African clawed frog)
DOID:14711
  • FG syndrome
  • Aliases:
    • Keller syndrome
    • Opitz-Kaveggia syndrome
Saccharomyces cerevisiae S288C
DOID:14711
  • FG syndrome
  • Aliases:
    • Keller syndrome
    • Opitz-Kaveggia syndrome
Homo sapiens (human)
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Saccharomyces cerevisiae S288C
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Mus musculus (house mouse)
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Homo sapiens (human)
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Rattus norvegicus (Norway rat)
DOID:14720
  • Ehlers-Danlos syndrome classic type 1
  • Aliases:
    • Ehlers-Danlos syndrome, type 1
    • type I Ehlers-Danlos syndrome
Rattus norvegicus (Norway rat)
DOID:14720
  • Ehlers-Danlos syndrome classic type 1
  • Aliases:
    • Ehlers-Danlos syndrome, type 1
    • type I Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:14720
  • Ehlers-Danlos syndrome classic type 1
  • Aliases:
    • Ehlers-Danlos syndrome, type 1
    • type I Ehlers-Danlos syndrome
Mus musculus (house mouse)
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
Rattus norvegicus (Norway rat)
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:14731
  • Weaver syndrome
  • Aliases:
    • WEAVER-LIKE SYNDROME
    • Weaver-Williams syndrome
Homo sapiens (human)
DOID:14731
  • Weaver syndrome
  • Aliases:
    • WEAVER-LIKE SYNDROME
    • Weaver-Williams syndrome
Mus musculus (house mouse)
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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