GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 251 - 275 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:3021
  • acute kidney failure
Saccharomyces cerevisiae S288C
DOID:0112298
  • spondylometaphyseal dysplasia Sedaghatian type
  • Aliases:
    • SMDS
    • Sedaghatian chondrodysplasia
    • congenital lethal metaphyseal chondrodysplasia
Saccharomyces cerevisiae S288C
DOID:3717
  • gastric adenocarcinoma
  • Aliases:
    • adenocarcinoma of stomach
    • stomach adenocarcinoma
Saccharomyces cerevisiae S288C
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Saccharomyces cerevisiae S288C
DOID:0080562
  • congenital disorder of glycosylation Ij
  • Aliases:
    • Congenital disorder of glycosylation 1j
Saccharomyces cerevisiae S288C
DOID:0110860
  • polycystic kidney disease 3
  • Aliases:
    • Apkd3
    • Pkd3
    • Polycystic Kidney Disease, Adult, Type III
Saccharomyces cerevisiae S288C
DOID:0080322
  • polycystic kidney disease
Saccharomyces cerevisiae S288C
DOID:3651
  • pyruvate carboxylase deficiency disease
  • Aliases:
    • deficiency of pyruvic carboxylase
Saccharomyces cerevisiae S288C
DOID:589
  • congenital hemolytic anemia
  • Aliases:
    • congenital hemolytic anaemia
    • hereditary hemolytic anaemia
    • hereditary hemolytic anemia
Saccharomyces cerevisiae S288C
DOID:114
  • heart disease
Saccharomyces cerevisiae S288C
DOID:440
  • neuromuscular disease
Saccharomyces cerevisiae S288C
DOID:1059
  • intellectual disability
Saccharomyces cerevisiae S288C
DOID:10579
  • leukodystrophy
Saccharomyces cerevisiae S288C
DOID:0080547
  • metabolic dysfunction-associated steatohepatitis
  • Aliases:
    • MASH
    • NASH
    • non-alcoholic steatohepatitis
    • nonalcoholic steatohepatitis
Saccharomyces cerevisiae S288C
DOID:0080563
  • congenital disorder of glycosylation Ik
  • Aliases:
    • congenital disorder of glycosylation 1k
Saccharomyces cerevisiae S288C
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Saccharomyces cerevisiae S288C
DOID:1168
  • familial hyperlipidemia
  • Aliases:
    • familial hyperlipoproteinemia
    • hyperlipemia
Saccharomyces cerevisiae S288C
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Saccharomyces cerevisiae S288C
DOID:1588
  • thrombocytopenia
Saccharomyces cerevisiae S288C
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Saccharomyces cerevisiae S288C
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Saccharomyces cerevisiae S288C
DOID:0080566
  • congenital disorder of glycosylation In
  • Aliases:
    • congenital disorder of glycosylation 1n
Saccharomyces cerevisiae S288C
DOID:0080556
  • congenital disorder of glycosylation Id
  • Aliases:
    • congenital disorder of glycosylation 1d
Saccharomyces cerevisiae S288C
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Saccharomyces cerevisiae S288C
DOID:0080283
  • developmental and epileptic encephalopathy 55
  • Aliases:
    • DEE55
    • GPIBD14
    • early infantile epileptic encephalopathy 55
    • glycosylphosphatidylinositol biosynthesis defect 14
Saccharomyces cerevisiae S288C

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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: August 19, 2024