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 2801 - 2825 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0110135
  • Bardet-Biedl syndrome 13
  • Aliases:
    • BBS13
Homo sapiens (human)
DOID:0060312
  • angular cheilitis
  • Aliases:
    • angular cheilosis
    • angular stomatitis
    • cheilosis
    • commissural cheilitis
Homo sapiens (human)
DOID:0080512
  • Meier-Gorlin syndrome 1
Homo sapiens (human)
DOID:3357
  • extraosseous osteosarcoma
  • Aliases:
    • extraskeletal Osteogenic sarcoma
    • extraskeletal osteosarcoma
Homo sapiens (human)
DOID:0112223
  • developmental and epileptic encephalopathy 89
  • Aliases:
    • DEE89
    • early infantile epileptic encephalopathy 89
Homo sapiens (human)
DOID:3762
  • cytochrome-c oxidase deficiency disease
  • Aliases:
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY
Homo sapiens (human)
DOID:2877
  • larynx sarcoma
  • Aliases:
    • sarcoma of larynx
Homo sapiens (human)
DOID:3620
  • central nervous system cancer
  • Aliases:
    • CNS neoplasm
    • central nervous system tumor
    • central nervous system tumors
    • malignant neoplasm of central nervous system
    • malignant tumor of CNS
    • neoplasm of central nervous system
Homo sapiens (human)
DOID:0070157
  • hereditary sensory and autonomic neuropathy type 1C
  • Aliases:
    • HSAN1C
    • hereditary sensory and autonomic neuropathy type IC
Homo sapiens (human)
DOID:0060563
  • Char syndrome
Homo sapiens (human)
DOID:1825
  • childhood absence epilepsy
  • Aliases:
    • petit mal seizure
    • pyknolepsy
Homo sapiens (human)
DOID:715
  • obsolete T-cell lymphoblastic leukemia/lymphoma
Homo sapiens (human)
DOID:9368
  • keratoconjunctivitis
Homo sapiens (human)
DOID:9182
  • pemphigus
Homo sapiens (human)
DOID:3206
  • plexiform schwannoma
  • Aliases:
    • Plexiform Neurinoma
    • Plexiform neurilemmoma
Homo sapiens (human)
DOID:6901
  • familiar ovarian carcinoma
Homo sapiens (human)
DOID:13641
  • exfoliation syndrome
  • Aliases:
    • Pseudoexfoliation glaucoma
    • Pseudoexfoliation syndrome
Homo sapiens (human)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Homo sapiens (human)
DOID:540
  • strabismus
Homo sapiens (human)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Homo sapiens (human)
DOID:4790
  • medulloepithelioma
  • Aliases:
    • Diktyoma, malignant
    • Medulloepithelioma, central nervous system
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:10488
  • imperforate anus
  • Aliases:
    • Congenital atresia of anus
    • Congenital or infantile occlusion of anus
    • anal atresia
Homo sapiens (human)
DOID:0112222
  • developmental and epileptic encephalopathy 88
  • Aliases:
    • DEE88
    • early infantile epileptic encephalopathy 88
Homo sapiens (human)
DOID:2477
  • motor peripheral neuropathy
  • Aliases:
    • HSMN
    • HSMN - Hereditary sensory and motor neuropathy
    • Hereditary motor and sensory neuropathy
    • Peripheral Motor Neuropathy
    • neuropathic muscular atrophy
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: August 19, 2024