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 226 - 250 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:5895
  • clear cell cystadenofibroma
Homo sapiens (human)
DOID:9427
  • hypertensive encephalopathy
Homo sapiens (human)
DOID:3783
  • Coffin-Lowry syndrome
Homo sapiens (human)
DOID:3529
  • congenital myopathy 1A
  • Aliases:
    • central core disease
    • central core myopathy
Homo sapiens (human)
DOID:4839
  • sebaceous adenocarcinoma
  • Aliases:
    • Sebaceous carcinoma
    • adenocarcinoma of the Sebaceous gland
Homo sapiens (human)
DOID:0050639
  • primary cutaneous amyloidosis
  • Aliases:
    • PCA
    • familial primary localized cutaneous amyloidosis
Homo sapiens (human)
DOID:3191
  • nemaline myopathy
  • Aliases:
    • Nemaline body disease
    • nemaline rod myopathy
    • rod body disease
    • rod myopathy
Homo sapiens (human)
DOID:0110179
  • Charcot-Marie-Tooth disease type 2B2
  • Aliases:
    • AR-CMT2B2
    • ARCMT2B
    • Autosomal recessive axonal CMT4C3
    • CMT2B2
    • Charcot-Marie-Tooth disease neuronal type 2B2
    • Charcot-Marie-Tooth neuropathy type 2B2
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Homo sapiens (human)
DOID:0110531
  • autosomal recessive nonsyndromic deafness 85
  • Aliases:
    • DFNB85
    • autosomal recessive deafness 85
Homo sapiens (human)
DOID:3323
  • Sandhoff disease
  • Aliases:
    • Sandhoff Jatzkewitz disease
Homo sapiens (human)
DOID:0050783
  • secondary progressive multiple sclerosis
  • Aliases:
    • SPMS
    • Secondary-progressive MS
Homo sapiens (human)
DOID:14018
  • alcoholic liver cirrhosis
  • Aliases:
    • Alcoholic Cirrhosis
    • Alcoholic cirrhosis of liver
    • Laennec's cirrhosis
    • Laennec's cirrhosis, alcoholic
    • Portal cirrhosis
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:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Homo sapiens (human)
DOID:0110743
  • type 1 diabetes mellitus 4
  • Aliases:
    • IDDM4
    • Insulin-Dependent Diabetes Mellitus 4
Homo sapiens (human)
DOID:0060889
  • prune belly syndrome
  • Aliases:
    • Eagle-Barret syndrome
    • Obrisnksy syndrome
    • abdominal muscle deficiency syndrome
Homo sapiens (human)
DOID:10908
  • hydrocephalus
  • Aliases:
    • hydrocephalus, X-linked
    • hydrocephalus, nonsyndromic, autosomal recessive
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:0060833
  • Griscelli syndrome type 2
  • Aliases:
    • GS2
    • Griscelli syndrome with hemophagocytic syndrome
    • Griscelli-Prunieras syndrome type 2
    • PAID syndrome
    • hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
    • partial albinism and immunodeficiency syndrome
Homo sapiens (human)
DOID:0110338
  • osteogenesis imperfecta type 17
  • Aliases:
    • OI17
    • osteogenesis imperfecta type XVII
Homo sapiens (human)
DOID:0081419
  • childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
  • Aliases:
    • DYSTONIA 29, CHILDHOOD-ONSET
    • DYTOABG
    • MECR-related neurologic disorder
    • MEPAN syndrome
    • Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
Homo sapiens (human)
DOID:0060653
  • lethal congenital contracture syndrome 3
  • Aliases:
    • Israeli Bedouin type B multiple contracture syndrome
Homo sapiens (human)
DOID:9409
  • diabetes insipidus
Homo sapiens (human)
DOID:2671
  • transitional cell carcinoma
  • Aliases:
    • transitional carcinoma
    • transitional cell tumor
    • urothelial cell carcinoma
Homo sapiens (human)
DOID:0050770
  • polycystic liver disease
  • Aliases:
    • congenital cystic liver disease
    • congenital hepatic cyst
    • fibrocystic liver 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