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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 8951 - 8975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0060248
  • Simpson-Golabi-Behmel syndrome type 1
  • Aliases:
    • DGSX Golabi-Rosen syndrome
    • Golabi-Rosen syndrome
    • SGB syndrome
    • Sara Angers syndrome
    • Simpson dysmorphia syndrome
    • X-linked dysplasia gigantism syndrome
    • bulldog syndrome
Homo sapiens (human)
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Homo sapiens (human)
DOID:0080502
  • GM1 gangliosidosis type 1
Homo sapiens (human)
DOID:3322
  • GM1 gangliosidosis
  • Aliases:
    • Beta-galactosidase deficiency
    • deficiency of beta-galactosidase
    • gangliosidosis GM1
Homo sapiens (human)
DOID:0080489
  • GM1 gangliosidosis type 3
  • Aliases:
    • adult-onset GM1 gangliosidosis
Homo sapiens (human)
DOID:0080107
  • microcephaly and chorioretinopathy 3
Homo sapiens (human)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Homo sapiens (human)
DOID:10603
  • glucose intolerance
  • Aliases:
    • Glucose malabsorption
    • Malabsorption of glucose
Homo sapiens (human)
DOID:4752
  • multiple system atrophy
  • Aliases:
    • Shy-Drager syndrome
Homo sapiens (human)
DOID:0050730
  • coenzyme Q10 deficiency disease
  • Aliases:
    • COENZYME Q10 DEFICIENCY, PRIMARY
Homo sapiens (human)
DOID:0070238
  • primary coenzyme Q10 deficiency 1
  • Aliases:
    • COQ10D1
    • CoQ deficiency 1
    • CoQ10 deficiency, primary, 1
    • coenzyme Q deficiency 1
    • ubiquinone deficiency 1
Homo sapiens (human)
DOID:0110131
  • Bardet-Biedl syndrome 9
  • Aliases:
    • BBS9
Homo sapiens (human)
DOID:0070055
  • Xia-Gibbs Syndrome
  • Aliases:
    • MRD25
    • autosomal dominant mental retardation 25
Homo sapiens (human)
DOID:0080133
  • multiple mitochondrial dysfunctions syndrome 1
  • Aliases:
    • NFU1 deficiency
Homo sapiens (human)
DOID:0111681
  • glutamate-cysteine ligase deficiency
  • Aliases:
    • gamma-glutamylcysteine synthetase deficiency
    • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Homo sapiens (human)
DOID:0070435
  • hyperphosphatasia with impaired intellectual development syndrome 3
  • Aliases:
    • GPIBD8
    • HPMRS3
    • glycosylphosphatidylinositol biosynthesis defect 8
    • hyperphosphatasia with mental retardation syndrome 3
Homo sapiens (human)
DOID:0081123
  • X-linked mental retardation Gustavson type
  • Aliases:
    • mental retardation with optic atrophy, deafness and seizures
Homo sapiens (human)
DOID:0060826
  • syndromic X-linked intellectual disability Shashi type
  • Aliases:
    • MRXS11
    • SMRXS
    • Shashi X-linked mental retardation syndrome
    • X-linked mental retardation Shashi type
    • mental retardation, X-linked, syndromic 11, Shashi type
    • syndromic X-linked intellectual disability type 11
Homo sapiens (human)
DOID:0111696
  • familial adult myoclonic epilepsy 6
  • Aliases:
    • BAFME6
    • FAME6
    • FCMTE6
    • benign adult familial myoclonic epilepsy 6
    • familial cortical myoclonic tremor and epilepsy 6
Homo sapiens (human)
DOID:0111061
  • familial hypobetalipoproteinemia 2
  • Aliases:
    • FHBL2
    • combined familial hypolipidemia
Homo sapiens (human)
DOID:0050338
  • primary bacterial infectious disease
Homo sapiens (human)
DOID:2512
  • nevoid basal cell carcinoma syndrome
  • Aliases:
    • Gorlin syndrome
    • NBCCS
    • basal cell nevus syndrome
Homo sapiens (human)
DOID:5593
  • gastric papillary adenocarcinoma
  • Aliases:
    • Papillary adenocarcinoma of stomach
Homo sapiens (human)
DOID:6595
  • gastric tubular adenocarcinoma
  • Aliases:
    • tubular adenocarcinoma of stomach
Homo sapiens (human)
DOID:0050579
  • glycogen storage disease XV
  • Aliases:
    • Glycogen storage disease 15
    • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
    • glycogen storage disease type XV
Mus musculus (house mouse)
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Last updated: December 9, 2024