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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 1051 - 1075 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Homo sapiens (human)
DOID:0080128
  • mitochondrial DNA depletion syndrome 9
  • Aliases:
    • fatal infantile lactic acidosis
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: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: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: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:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Homo sapiens (human)
DOID:0080141
  • mosaic variegated aneuploidy syndrome 1
Homo sapiens (human)
DOID:0080142
  • mosaic variegated aneuploidy syndrome 2
Homo sapiens (human)
DOID:0080143
  • congenital fibrosis of the extraocular muscles
Homo sapiens (human)
DOID:0080144
  • childhood acute lymphocytic leukemia
  • Aliases:
    • Childhood Acute Lymphoblastic Leukemia
Homo sapiens (human)
DOID:0080153
  • medium chain acyl-CoA dehydrogenase deficiency
Homo sapiens (human)
DOID:0080154
  • short chain acyl-CoA dehydrogenase deficiency
Homo sapiens (human)
DOID:0080155
  • very long chain acyl-CoA dehydrogenase deficiency
  • Aliases:
    • VLCAD deficiency
Homo sapiens (human)
DOID:0080156
  • X-linked adrenal hypoplasia congenita
  • Aliases:
    • congenital adrenal hypoplasia
Homo sapiens (human)
DOID:0080158
  • herpes simplex virus keratitis
  • Aliases:
    • dendritic keratitis
Homo sapiens (human)
DOID:0080159
  • Cryptococcal meningitis
Homo sapiens (human)
DOID:0080160
  • Cytomegalovirus retinitis
  • Aliases:
    • CMV retinitis
Homo sapiens (human)
DOID:0080162
  • lupus nephritis
Homo sapiens (human)
DOID:0080163
  • otulipenia
  • Aliases:
    • autoinflammation, panniculitis and dermatosis syndrome
    • otulin-related autoinflammatory syndrome
Homo sapiens (human)
DOID:0080170
  • normophosphatemic familial tumoral calcinosis
Homo sapiens (human)
DOID:0080171
  • esophageal atresia/tracheoesophageal fistula
  • Aliases:
    • esophageal atresia and/or tracheoesophageal fistula
    • tracheoesophageal fistula with or without esohageal atresia
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.1.0

Last updated: December 9, 2024