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 1 - 25 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0060202
  • amyotrophic lateral sclerosis type 11
  • Aliases:
    • ALS11
    • amyotrophic lateral sclerosis 11
Homo sapiens (human)
DOID:0080923
  • bilateral parasagittal parieto-occipital polymicrogyria
  • Aliases:
    • bilateral temporooccipital polymicrogyria
Homo sapiens (human)
DOID:0060589
  • Yunis-Varon syndrome
  • Aliases:
    • cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
    • cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Homo sapiens (human)
DOID:0111507
  • Lenz-Majewski hyperostotic dwarfism
  • Aliases:
    • Lenz-Majewski syndrome
Homo sapiens (human)
DOID:4767
  • classic pulmonary blastoma
Homo sapiens (human)
DOID:0111008
  • X-linked cone-rod dystrophy 1
  • Aliases:
    • COD1
    • CORDX1
    • X-linked cone dystrophy 1
Homo sapiens (human)
DOID:3606
  • ovarian mucinous adenocarcinoma
  • Aliases:
    • mucinous carcinoma of Ovary
Homo sapiens (human)
DOID:3316
  • perivascular tumor
  • Aliases:
    • malignant perivascular cancer
Homo sapiens (human)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Homo sapiens (human)
DOID:0112333
  • pontocerebellar hypoplasia type 16
  • Aliases:
    • PCH16
Homo sapiens (human)
DOID:0081188
  • autosomal recessive intellectual developmental disorder 14
Homo sapiens (human)
DOID:1757
  • facial hemiatrophy
  • Aliases:
    • PARRY-ROMBERG SYNDROME
Homo sapiens (human)
DOID:3098
  • small cell sarcoma
Homo sapiens (human)
DOID:5492
  • biphasic synovial sarcoma
  • Aliases:
    • Biphasic sarcoma of Synovium
    • Synovial sarcoma, biphasic
Homo sapiens (human)
DOID:5495
  • monophasic synovial sarcoma
  • Aliases:
    • Monophasic sarcoma of Synovium
Homo sapiens (human)
DOID:2121
  • ectodermal dysplasia
  • Aliases:
    • Congenital ectodermal defect
    • Congenital ectodermal dysplasia
Homo sapiens (human)
DOID:2877
  • larynx sarcoma
  • Aliases:
    • sarcoma of larynx
Homo sapiens (human)
DOID:0070157
  • hereditary sensory and autonomic neuropathy type 1C
  • Aliases:
    • HSAN1C
    • hereditary sensory and autonomic neuropathy type IC
Homo sapiens (human)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Homo sapiens (human)
DOID:0112152
  • CHIME syndrome
  • Aliases:
    • PIGL-CDG
    • Zunich neuroectodermal syndrome
    • Zunich-Kaye syndrome
    • coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
    • congenital disorder of glycosylation due to PIGL deficiency
    • neuroectodermal dysplasia, CHIME type
    • neuroectodermal syndrome, Zunich type
Homo sapiens (human)
DOID:0080207
  • CAKUT2
  • Aliases:
    • Congenital anomalies of the kidney and urinary tract 2
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:0080036
  • SOST-related sclerosing bone dysplasia
  • Aliases:
    • van Buchem disease
Homo sapiens (human)
DOID:14764
  • Larsen syndrome
  • Aliases:
    • dominant larsen syndrome
Homo sapiens (human)
DOID:5804
  • discrete subaortic stenosis
Homo sapiens (human)

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Last updated: August 19, 2024