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 2376 - 2400 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:3206
  • plexiform schwannoma
  • Aliases:
    • Plexiform Neurinoma
    • Plexiform neurilemmoma
Homo sapiens (human)
DOID:3205
  • melanotic neurilemmoma
  • Aliases:
    • Melanotic Schwannoma
    • Pigmented Neurilemmoma
    • Pigmented schwannoma
Homo sapiens (human)
DOID:3196
  • cellular schwannoma
  • Aliases:
    • cellular Neurinoma
Homo sapiens (human)
DOID:3627
  • aortic aneurysm
  • Aliases:
    • ruptured aortic aneurysm
Homo sapiens (human)
DOID:0080202
  • adenoid cystic carcinoma
Homo sapiens (human)
DOID:4866
  • salivary gland adenoid cystic carcinoma
  • Aliases:
    • Cylindroma
Homo sapiens (human)
DOID:0050469
  • Costello syndrome
  • Aliases:
    • FCS SYNDROME
    • Faciocutaneoskeletal Syndrome
Homo sapiens (human)
DOID:3507
  • dermatofibrosarcoma protuberans
Homo sapiens (human)
DOID:1572
  • normal pressure hydrocephalus
  • Aliases:
    • Low pressure hydrocephalus
Homo sapiens (human)
DOID:3314
  • angiomyolipoma
Homo sapiens (human)
DOID:4239
  • alveolar soft part sarcoma
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0060475
  • myoclonic-atonic epilepsy
  • Aliases:
    • EEOC
    • childhood onset epileptic encephalopathy
Homo sapiens (human)
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:0070268
  • congenital disorder of glycosylation type IIp
  • Aliases:
    • CDG IIp
    • CDG syndrome type IIp
    • CDG2P
    • CDGIIdp
    • Carbohydrate deficient glycoprotein syndrome type IIp
    • Congenital disorder of glycosylation type 2p
    • TMEM199-CDG
Homo sapiens (human)
DOID:13938
  • amenorrhea
  • Aliases:
    • absence of menstruation
    • amenia
Homo sapiens (human)
DOID:2352
  • hemochromatosis
  • Aliases:
    • Haemochromatosis
    • diabetes bronze
    • iron storage disorder
Homo sapiens (human)
DOID:2351
  • iron metabolism disease
  • Aliases:
    • disorder of iron metabolism
    • iron disorder
Homo sapiens (human)
DOID:893
  • Wilson disease
  • Aliases:
    • Cerebral pseudosclerosis
    • Westphal pseudosclerosis
    • Westphal-Strumpell syndrome
    • Wilson's disease
    • hepatolenticular degeneration
Homo sapiens (human)
DOID:11252
  • microcytic anemia
Homo sapiens (human)
DOID:0070122
  • Meckel syndrome 8
  • Aliases:
    • MKS8
    • Meckel-Gruber syndrome, type 8
Homo sapiens (human)
DOID:0111029
  • hemochromatosis type 1
  • Aliases:
    • HFE1
    • symptomatic form of HFE-related hereditary hemochromatosis
    • symptomatic form of classic hemochromatosis
    • symptomatic form of hemochromatosis type 1
Homo sapiens (human)
DOID:0111027
  • hemochromatosis type 2A
  • Aliases:
    • HFE2A
Homo sapiens (human)
DOID:0111034
  • hemochromatosis type 2
  • Aliases:
    • HFE2
    • JHH
    • juvenile hemochromatosis
Homo sapiens (human)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024