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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 3851 - 3875 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Mus musculus (house mouse)
DOID:14695
  • galactokinase deficiency
  • Aliases:
    • Galactosemia II
Mus musculus (house mouse)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Mus musculus (house mouse)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Mus musculus (house mouse)
DOID:0060697
  • hyperekplexia 2
  • Aliases:
    • HKPX2
Mus musculus (house mouse)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Mus musculus (house mouse)
DOID:0070217
  • familial hyperinsulinemic hypoglycemia 6
  • Aliases:
    • HHF6
    • HI/HA syndrome
    • hyperinsulinism-hyperammonemia syndrome
Mus musculus (house mouse)
DOID:4795
  • GM2 gangliosidosis, AB variant
  • Aliases:
    • Tay-Sachs disease AB variant
    • Tay-Sachs disease, variant AB
Mus musculus (house mouse)
DOID:3321
  • GM2 gangliosidosis
  • Aliases:
    • gangliosidosis GM2
Mus musculus (house mouse)
DOID:0112163
  • spermatogenic failure 45
  • Aliases:
    • SPGF45
Homo sapiens (human)
DOID:1858
  • McCune Albright syndrome
  • Aliases:
    • fibrous dysplasia of bone
    • osteitis fibrosa disseminata
    • polyostotic fibrous dysplasia
Mus musculus (house mouse)
DOID:0110887
  • inflammatory bowel disease 12
  • Aliases:
    • IBD12
Mus musculus (house mouse)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0070329
  • mitochondrial DNA depletion syndrome
  • Aliases:
    • mtDNA depletion syndrome
Homo sapiens (human)
DOID:0090055
  • dystonia 25
Mus musculus (house mouse)
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Mus musculus (house mouse)
DOID:0112276
  • neurodevelopmental disorder with involuntary movements
  • Aliases:
    • NEDIM
Mus musculus (house mouse)
DOID:0080450
  • developmental and epileptic encephalopathy 17
  • Aliases:
    • DEE17
    • early infantile epileptic encephalopathy 17
Mus musculus (house mouse)
DOID:4183
  • pseudopseudohypoparathyroidism
  • Aliases:
    • Normocalcemic pseudohypoparathyroidism
Mus musculus (house mouse)
DOID:0111623
  • ACTH-independent macronodular adrenal hyperplasia 1
  • Aliases:
    • AIMAH1
Mus musculus (house mouse)
DOID:4184
  • pseudohypoparathyroidism
Mus musculus (house mouse)
DOID:0080053
  • Albright's hereditary osteodystrophy
  • Aliases:
    • Albright hereditary osteodystrophy
    • pseudohypoparathyroidism type 1a
Mus musculus (house mouse)
DOID:0080222
  • pseudohypoparathyroidism type IB
Mus musculus (house mouse)
DOID:0112010
  • pituitary adenoma 3
  • Aliases:
    • PITA3
    • pituitary adenoma 3, multiple types
Mus musculus (house mouse)
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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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Last updated: December 9, 2024