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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 6526 - 6550 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0050450
  • Gitelman syndrome
  • Aliases:
    • HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Homo sapiens (human)
DOID:0111168
  • sepiapterin reductase deficiency
  • Aliases:
    • DRD due to SRD
    • SPR deficiency
    • SRD
    • dopa-responsive dystonia due to sepiapterin reductase deficiency
Homo sapiens (human)
DOID:0050726
  • tyrosinemia type I
  • Aliases:
    • hepatorenal tyrosinemia
Homo sapiens (human)
DOID:9275
  • tyrosinemia
Homo sapiens (human)
DOID:0070094
  • oculocutaneous albinism type IA
  • Aliases:
    • OCA1A
    • Oculocutaneous Albinism, Tyrosinase-Negative
Homo sapiens (human)
DOID:0050630
  • Aland Island eye disease
  • Aliases:
    • FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
    • Forsius-Eriksson syndrome
Homo sapiens (human)
DOID:0111257
  • gamma-glutamyl transpeptidase deficiency
  • Aliases:
    • GGT deficiency
    • GGT1 deficiency
    • GTG deficiency
    • gamma-glutamyl transferase deficiency
    • glutathionuria
Homo sapiens (human)
DOID:9271
  • ornithine carbamoyltransferase deficiency
  • Aliases:
    • deficiency of citrulline phosphorylase
    • ornithine transcarbamylase deficiency
Homo sapiens (human)
DOID:14755
  • argininosuccinic aciduria
  • Aliases:
    • Argininosuccinate lyase deficiency
    • argininosuccinic acidemia
    • arginosuccinase deficiency
    • deficiency of argininosuccinate lyase
Homo sapiens (human)
DOID:9278
  • hyperargininemia
  • Aliases:
    • Arginase deficiency
    • argininemia
    • deficiency of canavanase
Homo sapiens (human)
DOID:9274
  • hyperlysinemia
Homo sapiens (human)
DOID:9268
  • glycine encephalopathy
  • Aliases:
    • Non-ketotic hyperglycinemia
    • nonketotic hyperglycinemia
Homo sapiens (human)
DOID:14753
  • isovaleric acidemia
  • Aliases:
    • Isovaleryl-CoA dehydrogenase deficiency
    • isovaleric acid CoA dehydrogenase deficiency
    • isovaleric aciduria
Homo sapiens (human)
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Homo sapiens (human)
DOID:859
  • holocarboxylase synthetase deficiency
  • Aliases:
    • Biotin-(propionyl-CoA-carboxylase) ligase deficiency
    • Multiple carboxylase deficiency - neonatal onset
Homo sapiens (human)
DOID:14749
  • methylmalonic acidemia
  • Aliases:
    • methylmalonic aciduria
Homo sapiens (human)
DOID:0111254
  • glutaric acidemia I
  • Aliases:
    • GA1
    • glutaric academia type 1
    • glutaric aciduria 1
    • glutaric aciduria type I
    • glutaryl-coA dehydrogenase deficiency
    • glutaryl-coenzyme A dehydrogenase deficiency
Homo sapiens (human)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Homo sapiens (human)
DOID:1064
  • cystinosis
  • Aliases:
    • cystine storage disease
Homo sapiens (human)
DOID:0060175
  • succinic semialdehyde dehydrogenase deficiency
  • Aliases:
    • 4-hydroxybutyric aciduria
    • SSADH
    • gamma-hydroxybutyric aciduria
Homo sapiens (human)
DOID:0090031
  • D-bifunctional protein deficiency
Homo sapiens (human)
DOID:0090129
  • carnitine palmitoyltransferase I deficiency
  • Aliases:
    • CPT I deficiency
    • CPT1A deficiency
    • L-CPT1 deficiency
    • carnitine palmitoyl transferase 1A deficiency
    • carnitine palmitoyl transferase IA deficiency
    • hepatic CPT deficiency type I
    • hepatic carnitine palmitoyl transferase 1 deficiency
    • hepatic carnitine palmitoyl transferase I deficiency
Homo sapiens (human)
DOID:0080388
  • nephrotic syndrome type 7
  • Aliases:
    • Ig-mediated MPGN
    • Ig-mediated membranoproliferative glomerulonephritis
    • Immunoglobulin-mediated MPGN
    • immunoglobulin-mediated membranoproliferative glomerulonephritis
    • nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
Homo sapiens (human)
DOID:2388
  • renal artery disease
  • Aliases:
    • renal vascular disease
    • vascular disorder of kidney
Homo sapiens (human)
DOID:11427
  • endosalpingiosis
Homo sapiens (human)
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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: August 19, 2024