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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 12776 - 12800 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111141
  • delayed sleep phase syndrome
  • Aliases:
    • DSPD
Mus musculus (house mouse)
DOID:0111347
  • epidermolysis bullosa with congenital localized absence of skin and deformity of nails
  • Aliases:
    • EBD, Bart type
    • epidermolysis bullosa dystrophica, Bart type
Homo sapiens (human)
DOID:0080224
  • autosomal dominant dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0080988
  • pretibial dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0111345
  • transient bullous dermolysis of the newborn
  • Aliases:
    • DEB, bullous dermolysis of the newborn
    • DEB-BDN
Homo sapiens (human)
DOID:0080086
  • nonsyndromic congenital nail disorder 8
  • Aliases:
    • isolated toenail dystrophy
Homo sapiens (human)
DOID:4959
  • epidermolysis bullosa dystrophica
  • Aliases:
    • Dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0060642
  • recessive dystrophic epidermolysis bullosa
  • Aliases:
    • RDEB, Hallopeau-Siemens type
    • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
    • autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Homo sapiens (human)
DOID:0080329
  • cold-induced sweating syndrome 1
Mus musculus (house mouse)
DOID:0090050
  • dystonia 27
Homo sapiens (human)
DOID:2033
  • communication disorder
Homo sapiens (human)
DOID:0050696
  • fetal alcohol spectrum disorder
Mus musculus (house mouse)
DOID:3877
  • functional colonic disease
Mus musculus (house mouse)
DOID:0050558
  • Ullrich congenital muscular dystrophy
  • Aliases:
    • ULLRICH DISEASE
    • Ullrich scleroatonic muscular dystrophy
Homo sapiens (human)
DOID:0050557
  • congenital muscular dystrophy
Homo sapiens (human)
DOID:0050663
  • Bethlem myopathy
  • Aliases:
    • benign congenital muscular dystrophy
Homo sapiens (human)
DOID:0080726
  • Ehlers-Danlos syndrome classic type 2
Homo sapiens (human)
DOID:0081386
  • TANGO2-related metabolic encephalopathy and arrythmias
  • Aliases:
    • TANGO2 deficiency
    • metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
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
Mus musculus (house mouse)
DOID:3319
  • lymphangioleiomyomatosis
  • Aliases:
    • lung lymphangioleiomyomatosis
    • lymphangiomyomatosis
    • pulmonary lymphangioleiomyomatosis
Mus musculus (house mouse)
DOID:3146
  • lipid metabolism disorder
  • Aliases:
    • dyslipidemia
    • fatty acid metabolism disorder
Mus musculus (house mouse)
DOID:13269
  • hereditary coproporphyria
  • Aliases:
    • Coproporphyrinogen oxidase deficiency
    • hereditary coproporphyria porphyria
Mus musculus (house mouse)
DOID:14720
  • Ehlers-Danlos syndrome classic type 1
  • Aliases:
    • Ehlers-Danlos syndrome, type 1
    • type I Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:0110265
  • cataract 31 multiple types
  • Aliases:
    • CTRCT31
Homo sapiens (human)
DOID:0111740
  • X-linked deafness 6
  • Aliases:
    • DFNX6
Homo sapiens (human)
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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