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 5451 - 5475 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Homo sapiens (human)
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Homo sapiens (human)
DOID:5766
  • pulmonary sclerosing hemangioma
  • Aliases:
    • Pneumocytoma
Homo sapiens (human)
DOID:0110108
  • atrial heart septal defect 3
  • Aliases:
    • ASD3
    • atrial septal defect 3
Homo sapiens (human)
DOID:3071
  • gliosarcoma
  • Aliases:
    • Glioblastoma with sarcomatous component
Homo sapiens (human)
DOID:0110016
  • Leber congenital amaurosis 2
  • Aliases:
    • LCA2
    • amaurosis congenita of Leber II
Homo sapiens (human)
DOID:4769
  • pleuropulmonary blastoma
Homo sapiens (human)
DOID:1572
  • normal pressure hydrocephalus
  • Aliases:
    • Low pressure hydrocephalus
Homo sapiens (human)
DOID:12800
  • mucopolysaccharidosis VI
  • Aliases:
    • MPS VI - Maroteaux-Lamy syndrome
    • Maroteaux - Lamy syndrome
    • Maroteaux-Lamy syndrome
    • arylsulfatase B deficiency
    • deficiency of N-acetylgalactosamine-4-sulfatase
Homo sapiens (human)
DOID:0060705
  • X-linked lymphoproliferative syndrome 1
  • Aliases:
    • XLP1
Homo sapiens (human)
DOID:0080146
  • childhood B-cell acute lymphoblastic leukemia
Homo sapiens (human)
DOID:3119
  • gastrointestinal system cancer
  • Aliases:
    • GI tumor
    • digestive system cancer
    • gastrointestinal tract cancer
Homo sapiens (human)
DOID:0110225
  • Brugada syndrome 8
  • Aliases:
    • BRGDA8
Homo sapiens (human)
DOID:3973
  • thyroid gland medullary carcinoma
  • Aliases:
    • Medullary carcinoma of the Thyroid gland
    • Ultimobranchial thyroid tumor
    • Ultimobranchial thyroid tumour
    • medullary thyroid carcinoma
Homo sapiens (human)
DOID:0060444
  • granular corneal dystrophy 2
  • Aliases:
    • CGD2
    • avellino corneal dystrophy
    • combined granular-lattice corneal dystrophy
    • corneal dystrophy, Avellino type
    • granular corneal dystrophy type 2
Homo sapiens (human)
DOID:0060295
  • complement component 2 deficiency
Homo sapiens (human)
DOID:0050256
  • angiostrongyliasis
Homo sapiens (human)
DOID:10965
  • spastic diplegia
  • Aliases:
    • Diplegic infantile cerebral palsy
    • Infantile spastic cerebral palsy
    • Little's disease
    • Littles disease
    • cerebral spastic infantile paralysis
    • infantile diplegic cerebral palsy
Homo sapiens (human)
DOID:1781
  • thyroid cancer
  • Aliases:
    • Thyroid gland neoplasm
    • malignant neoplasm of thyroid gland
    • malignant tumour of thyroid gland
    • neoplasm of thyroid gland
    • thyroid gland cancer
    • thyroid neoplasm
Homo sapiens (human)
DOID:10595
  • Charcot-Marie-Tooth disease
  • Aliases:
    • CMT - Charcot-Marie-Tooth disease
Homo sapiens (human)
DOID:1682
  • congenital heart disease
  • Aliases:
    • Congenital Heart Defects
    • Congenital anomaly of heart
    • Heart Malformation
    • congenital heart defect
    • heart defect
Homo sapiens (human)
DOID:12157
  • aseptic meningitis
  • Aliases:
    • acute aseptic meningitis
Homo sapiens (human)
DOID:3737
  • verrucous carcinoma
  • Aliases:
    • Warty carcinoma
    • verrucous squamous carcinoma
    • verrucous squamous cell carcinoma
Homo sapiens (human)
DOID:0110589
  • autosomal dominant nonsyndromic deafness 68
  • Aliases:
    • DFNA68
    • autosomal dominant deafness 68
Homo sapiens (human)
DOID:0050540
  • Charcot-Marie-Tooth disease type 3
  • Aliases:
    • DEJERINE-SOTTAS NEUROPATHY
    • DEJERINE-SOTTAS SYNDROME
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024