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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 11251 - 11275 of 15957 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Caenorhabditis elegans
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Rattus norvegicus (Norway rat)
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Homo sapiens (human)
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Mus musculus (house mouse)
DOID:0080130
  • mitochondrial DNA depletion syndrome 12a
Rattus norvegicus (Norway rat)
DOID:0080130
  • mitochondrial DNA depletion syndrome 12a
Mus musculus (house mouse)
DOID:0080335
  • mitochondrial DNA depletion syndrome 12b
Mus musculus (house mouse)
DOID:0080335
  • mitochondrial DNA depletion syndrome 12b
Rattus norvegicus (Norway rat)
DOID:0080335
  • mitochondrial DNA depletion syndrome 12b
Homo sapiens (human)
DOID:0080131
  • mitochondrial DNA depletion syndrome 13
  • Aliases:
    • FBXL4 deficiency
    • FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
    • mitochondrial DNA depletion syndrome 13, encephalomyopathic type
Homo sapiens (human)
DOID:0080336
  • mitochondrial DNA depletion syndrome 14
Homo sapiens (human)
DOID:0080337
  • mitochondrial DNA depletion syndrome 15
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Mus musculus (house mouse)
DOID:0070451
  • mitochondrial DNA depletion syndrome 20
  • Aliases:
    • mitochondrial DNA depletion syndrome 20 (MNGIE type)
Homo sapiens (human)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Homo sapiens (human)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Rattus norvegicus (Norway rat)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Mus musculus (house mouse)
DOID:0080128
  • mitochondrial DNA depletion syndrome 9
  • Aliases:
    • fatal infantile lactic acidosis
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:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Mus musculus (house mouse)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Homo sapiens (human)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Rattus norvegicus (Norway rat)
DOID:0060537
  • mitochondrial complex II deficiency
  • Aliases:
    • isolated mitochondrial respiratory chain complex II deficiency
    • isolated succinate-CoQ reductase deficiency
    • isolated succinate-coenzyme Q reductase deficiency
    • isolated succinate-ubiquinone reductase deficiency
Rattus norvegicus (Norway rat)
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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