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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 2876 - 2900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0070316
  • Miura type epiphyseal chondrodysplasia
  • Aliases:
    • ECDM
    • tall stature-scoliosis-macrodactyly of the great toes syndrome
    • tall stature-scoliosis-macrodactyly of the halluces syndrome
Mus musculus (house mouse)
DOID:0070316
  • Miura type epiphyseal chondrodysplasia
  • Aliases:
    • ECDM
    • tall stature-scoliosis-macrodactyly of the great toes syndrome
    • tall stature-scoliosis-macrodactyly of the halluces syndrome
Homo sapiens (human)
DOID:0070329
  • mitochondrial DNA depletion syndrome
  • Aliases:
    • mtDNA depletion syndrome
Homo sapiens (human)
DOID:0070329
  • mitochondrial DNA depletion syndrome
  • Aliases:
    • mtDNA depletion syndrome
Mus musculus (house mouse)
DOID:0070330
  • multiple mitochondrial dysfunctions syndrome
  • Aliases:
    • fatal multiple mitochondrial dysfunction syndrome
Homo sapiens (human)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Homo sapiens (human)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Mus musculus (house mouse)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Rattus norvegicus (Norway rat)
DOID:0070336
  • arthrogryposis multiplex congenita-6
Mus musculus (house mouse)
DOID:0070336
  • arthrogryposis multiplex congenita-6
Homo sapiens (human)
DOID:0070337
  • epithelial recurrent erosion dystrophy
  • Aliases:
    • COL17A1
    • ERED
Mus musculus (house mouse)
DOID:0070337
  • epithelial recurrent erosion dystrophy
  • Aliases:
    • COL17A1
    • ERED
Homo sapiens (human)
DOID:0070338
  • cerebellar hypoplasia
Homo sapiens (human)
DOID:0070338
  • cerebellar hypoplasia
Mus musculus (house mouse)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Homo sapiens (human)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Rattus norvegicus (Norway rat)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Mus musculus (house mouse)
DOID:0070340
  • classic citrullinemia
Mus musculus (house mouse)
DOID:0070340
  • classic citrullinemia
Homo sapiens (human)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Mus musculus (house mouse)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Homo sapiens (human)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Drosophila melanogaster (fruit fly)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Drosophila melanogaster (fruit fly)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Mus musculus (house mouse)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Homo sapiens (human)
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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