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 26 - 50 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0070382
  • developmental and epileptic encephalopathy 95
  • Aliases:
    • DEE95
    • early infantile epileptic encephalopathy 95
Homo sapiens (human)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Homo sapiens (human)
DOID:0111248
  • cerebrocostomandibular syndrome
  • Aliases:
    • CCM syndrome
    • CCMS
    • cerebro-costo-mandibular syndrome
    • rib gap defects with micrognathia
Homo sapiens (human)
DOID:0070259
  • congenital disorder of glycosylation type IIg
  • Aliases:
    • CDG IIg
    • CDG2G
    • CDGII/COG1 cerebrocostomandibular-like syndrome
    • CDGIIg
    • Carbohydrate deficient glycoprotein syndrome type IIg
Homo sapiens (human)
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Homo sapiens (human)
DOID:6603
  • Kummell's disease
  • Aliases:
    • Kummell disease
    • Kummell's spondylitis
    • Traumatic spondylopathy
Homo sapiens (human)
DOID:0050795
  • cone dystrophy
  • Aliases:
    • retinal cone dystrophy
Homo sapiens (human)
DOID:0081023
  • retinal cone dystrophy 4
Homo sapiens (human)
DOID:1577
  • limited scleroderma
  • Aliases:
    • Limited cutaneous systemic sclerosis
    • systemic sclerosis, limited
Homo sapiens (human)
DOID:711
  • refractory hairy cell leukemia
Homo sapiens (human)
DOID:1556
  • arthus reaction
  • Aliases:
    • Arthus phenomenon
    • Arthus type urticaria
Homo sapiens (human)
DOID:2846
  • bruxism
  • Aliases:
    • Bruxism - teeth grinding
    • Grinding teeth
    • Teeth grinding
    • sleep related bruxism
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Homo sapiens (human)
DOID:9362
  • status asthmaticus
  • Aliases:
    • Asthma with status asthmaticus
    • Severe asthma attack
Homo sapiens (human)
DOID:9395
  • croup
  • Aliases:
    • Croup syndrome
    • Laryngotracheobronchitis
    • acute Obstructive Laryngitis
    • acute laryngotracheobronchitis
Homo sapiens (human)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Homo sapiens (human)
DOID:0080443
  • developmental and epileptic encephalopathy 21
  • Aliases:
    • DEE21
    • early infantile epileptic encephalopathy 21
Homo sapiens (human)
DOID:0111242
  • congenital muscular dystrophy-dystroglycanopathy type A6
  • Aliases:
    • MDDGA6
    • Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
Homo sapiens (human)
DOID:0081337
  • congenital myopathy
Homo sapiens (human)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Homo sapiens (human)
DOID:11130
  • secondary hypertension
Homo sapiens (human)
DOID:630
  • genetic disease
Homo sapiens (human)
DOID:0070257
  • congenital disorder of glycosylation type IIe
  • Aliases:
    • CDG IIe
    • CDG syndrome type IIe
    • CDG2E
    • CDGIIde
    • COG7-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIe
Homo sapiens (human)
DOID:11166
  • Human papillomavirus infectious disease
  • Aliases:
    • HPV
Homo sapiens (human)
DOID:0080198
  • infantile histiocytoid cardiomyopathy
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