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 6651 - 6675 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:10480
  • diaphragmatic eventration
Homo sapiens (human)
DOID:0111217
  • autosomal dominant centronuclear myopathy
  • Aliases:
    • AD-CNM
Homo sapiens (human)
DOID:0111216
  • autosomal recessive centronuclear myopathy
  • Aliases:
    • AR-CNM
Homo sapiens (human)
DOID:0111223
  • centronuclear myopathy 1
  • Aliases:
    • CNM1
Homo sapiens (human)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Homo sapiens (human)
DOID:0050818
  • transcobalamin II deficiency
  • Aliases:
    • TCN2 deficiency
Homo sapiens (human)
DOID:0060742
  • methylmalonic acidemia cblA type
  • Aliases:
    • methylmalonic aciduria cblA type
    • methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
Homo sapiens (human)
DOID:0090126
  • branched-chain keto acid dehydrogenase kinase deficiency
  • Aliases:
    • BCKDK deficiency
    • BCKDKD
    • autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Homo sapiens (human)
DOID:0060743
  • methylmalonic acidemia cblB type
  • Aliases:
    • methylmalonic aciduria cblB type
    • methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Homo sapiens (human)
DOID:4839
  • sebaceous adenocarcinoma
  • Aliases:
    • Sebaceous carcinoma
    • adenocarcinoma of the Sebaceous gland
Homo sapiens (human)
DOID:5375
  • hair follicle neoplasm
  • Aliases:
    • Hair Matrix neoplasm
    • Hair matrix tumour
Homo sapiens (human)
DOID:5374
  • pilomatrixoma
  • Aliases:
    • Pilomatricoma
    • benign pilomatricoma
Homo sapiens (human)
DOID:0112319
  • Kanzaki disease
  • Aliases:
    • NAGA deficiency type 2
    • adult-onset alpha-N-acetylgalactosaminidase deficiency
    • alpha-N-acetylgalactosaminidase deficiency type 2
Homo sapiens (human)
DOID:0112318
  • Schindler disease type 1
  • Aliases:
    • NAGA deficiency type 1
    • alpha-N-acetylgalactosaminidase deficiency type 1
Homo sapiens (human)
DOID:1947
  • trichomoniasis
Homo sapiens (human)
DOID:2510
  • Kluver-Bucy syndrome
  • Aliases:
    • Klver-Bucy syndrome
Homo sapiens (human)
DOID:0070094
  • oculocutaneous albinism type IA
  • Aliases:
    • OCA1A
    • Oculocutaneous Albinism, Tyrosinase-Negative
Homo sapiens (human)
DOID:0110178
  • Charcot-Marie-Tooth disease axonal type 2V
  • Aliases:
    • CMT2V
    • Charcot-Marie-Tooth neuropathy type 2V
    • autosomal dominant Charcot-Marie-Tooth disease type 2V
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
Homo sapiens (human)
DOID:5453
  • pulmonary venoocclusive disease
  • Aliases:
    • pulmonary veno-occlusive disease
Homo sapiens (human)
DOID:4972
  • myelodysplastic/myeloproliferative neoplasm
  • Aliases:
    • Myeloproliferative/Myelodysplastic syndromes
    • myelodysplastic myeloproliferative cancer
Homo sapiens (human)
DOID:3493
  • signet ring cell adenocarcinoma
  • Aliases:
    • Signet ring carcinoma
    • Signet ring cell carcinoma
Homo sapiens (human)
DOID:0050933
  • ovarian serous carcinoma
Homo sapiens (human)
DOID:3492
  • mixed connective tissue disease
  • Aliases:
    • Connective tissue disease overlap syndrome
    • mixed collagen vascular disease
Homo sapiens (human)
DOID:5381
  • bile duct adenoma
  • Aliases:
    • Cholangioadenoma
Homo sapiens (human)
DOID:0060785
  • adult-onset autosomal dominant demyelinating leukodystrophy
  • Aliases:
    • ADLD
    • adult-onset autosomal dominant leukodystrophy
    • autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
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