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 3426 - 3450 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0080130
  • mitochondrial DNA depletion syndrome 12a
Rattus norvegicus (Norway rat)
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:0080132
  • Sengers syndrome
  • Aliases:
    • mitochondrial DNA depletion syndrome 10
    • mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Homo sapiens (human)
DOID:0080133
  • multiple mitochondrial dysfunctions syndrome 1
  • Aliases:
    • NFU1 deficiency
Homo sapiens (human)
DOID:0080133
  • multiple mitochondrial dysfunctions syndrome 1
  • Aliases:
    • NFU1 deficiency
Mus musculus (house mouse)
DOID:0080135
  • multiple mitochondrial dysfunctions syndrome 3
  • Aliases:
    • IBA57 deficiency
Homo sapiens (human)
DOID:0080136
  • multiple mitochondrial dysfunctions syndrome 4
Homo sapiens (human)
DOID:0080137
  • multiple endocrine neoplasia type 4
  • Aliases:
    • Multiple Endocrine Neoplasia, Type IV
Homo sapiens (human)
DOID:0080137
  • multiple endocrine neoplasia type 4
  • Aliases:
    • Multiple Endocrine Neoplasia, Type IV
Rattus norvegicus (Norway rat)
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Homo sapiens (human)
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Caenorhabditis elegans
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Saccharomyces cerevisiae S288C
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Xenopus laevis (African clawed frog)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Mus musculus (house mouse)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Homo sapiens (human)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Caenorhabditis elegans
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Rattus norvegicus (Norway rat)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Saccharomyces cerevisiae S288C
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Drosophila melanogaster (fruit fly)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Danio rerio (zebrafish)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Xenopus tropicalis (tropical clawed frog)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Homo sapiens (human)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Saccharomyces cerevisiae S288C
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Mus musculus (house mouse)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Caenorhabditis elegans

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Last updated: December 9, 2024