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 4851 - 4875 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0110344
  • osteogenesis imperfecta type 5
  • Aliases:
    • OI5
    • osteogenesis imperfecta type V
Homo sapiens (human)
DOID:0080128
  • mitochondrial DNA depletion syndrome 9
  • Aliases:
    • fatal infantile lactic acidosis
Homo sapiens (human)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Homo sapiens (human)
DOID:0110925
  • familial hemophagocytic lymphohistiocytosis 5
  • Aliases:
    • FHL5
    • HLH5
    • HPLH5
Homo sapiens (human)
DOID:0080436
  • developmental and epileptic encephalopathy 4
  • Aliases:
    • DEE4
    • early infantile epileptic encephalopathy 4
Homo sapiens (human)
DOID:0080573
  • congenital disorder of glycosylation Ix
  • Aliases:
    • congenital disorder of glycosylation 1x
Homo sapiens (human)
DOID:0080572
  • congenital disorder of glycosylation Iw
  • Aliases:
    • congenital disorder of glycosylation 1w
Homo sapiens (human)
DOID:0080572
  • congenital disorder of glycosylation Iw
  • Aliases:
    • congenital disorder of glycosylation 1w
Saccharomyces cerevisiae S288C
DOID:0080573
  • congenital disorder of glycosylation Ix
  • Aliases:
    • congenital disorder of glycosylation 1x
Saccharomyces cerevisiae S288C
DOID:1700
  • X-linked ichthyosis
  • Aliases:
    • X-linked ichthyosis with steryl-sulphatase deficiency
    • X-linked placental steryl-sulphatase deficiency
    • X-linked recessive ichthyosis
Homo sapiens (human)
DOID:0110471
  • autosomal recessive nonsyndromic deafness 16
  • Aliases:
    • DFNB16
    • autosomal recessive deafness 16
Homo sapiens (human)
DOID:3168
  • squamous cell neoplasm
  • Aliases:
    • Epidermoid cell tumor
    • squamous cell tumor
Homo sapiens (human)
DOID:0070511
  • polyhydramnios, megalencephaly, and symptomatic epilepsy
  • Aliases:
    • PMSE
    • PMSE syndrome
    • Pretzel syndrome
Homo sapiens (human)
DOID:0111807
  • syndromic microphthalmia 9
  • Aliases:
    • Matthew-Wood syndrome
    • anophthalmia-pulmonary hypoplasia syndrome
    • anophthalmia/microphthalmia and pulmonary hypoplasia
    • clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
    • pulmonary agenesis microphthalmi and diaphragmatic defect
    • spear syndrome
Homo sapiens (human)
DOID:0111457
  • STING-associated vasculopathy with onset in infancy
  • Aliases:
    • SAVI
Homo sapiens (human)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Homo sapiens (human)
DOID:0080089
  • tubular aggregate myopathy 1
Homo sapiens (human)
DOID:0111970
  • immunodeficiency 10
  • Aliases:
    • CID due to STIM1 deficiency
    • IMD10
    • STIM1 deficiency
    • combined immunodeficiency due to STIM1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 2
Homo sapiens (human)
DOID:2917
  • cryoglobulinemia
  • Aliases:
    • Cryoimmunoglobulinaemia
Saccharomyces cerevisiae S288C
DOID:0050848
  • obstructive sleep apnea
  • Aliases:
    • obstructive sleep apnea syndrome
Saccharomyces cerevisiae S288C
DOID:2559
  • opiate dependence
  • Aliases:
    • Opioid type dependence
Saccharomyces cerevisiae S288C
DOID:3328
  • temporal lobe epilepsy
  • Aliases:
    • epilepsy, temporal lobe
Saccharomyces cerevisiae S288C
DOID:0070223
  • progressive familial intrahepatic cholestasis 3
  • Aliases:
    • MDR3 deficiency
    • PFIC3
    • progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
Saccharomyces cerevisiae S288C
DOID:0060750
  • familial temporal lobe epilepsy 3
  • Aliases:
    • FMTLE
    • familial mesial temporal lobe epilepsy
Saccharomyces cerevisiae S288C
DOID:0110893
  • inflammatory bowel disease 13
  • Aliases:
    • IBD13
Saccharomyces cerevisiae S288C

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Last updated: December 9, 2024