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 6926 - 6950 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0080633
  • developmental cardiac valvular defect
Homo sapiens (human)
DOID:6367
  • acral lentiginous melanoma
  • Aliases:
    • acral lentiginous melanoma, malignant
    • malignant acral lentiginous melanoma
Homo sapiens (human)
DOID:5644
  • tricuspid valve prolapse
Homo sapiens (human)
DOID:9341
  • urethral diverticulum
Homo sapiens (human)
DOID:2256
  • osteochondrodysplasia
  • Aliases:
    • Cartilage Development disorder
    • Congenital anomaly of cartilage
    • Osteochondrodysplasia syndrome
    • chondrodystrophy
    • skeletal dysplasia
Mus musculus (house mouse)
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
Mus musculus (house mouse)
DOID:0112002
  • immunodeficiency 47
  • Aliases:
    • CDG IIs
    • CDG2S
    • CDGIIs
    • IMD47
    • congenital disorder of glycosylation type IIs
    • immunodeficiency and hepatopathy with or without neurologic features
Homo sapiens (human)
DOID:0111181
  • familial hemiplegic migraine 1
  • Aliases:
    • FHM1
    • MHP1
    • familial hemiplegic migraine1 with progressive cerebellar ataxia
Homo sapiens (human)
DOID:11975
  • coloboma of optic nerve
  • Aliases:
    • Coloboma of optic disc
    • Morning glory syndrome
Homo sapiens (human)
DOID:0080566
  • congenital disorder of glycosylation In
  • Aliases:
    • congenital disorder of glycosylation 1n
Homo sapiens (human)
DOID:0070192
  • autosomal recessive chronic granulomatous disease 1
  • Aliases:
    • CDG1
    • autosomal recessive chronic granulomatous disease cytochrome b-positive type I
    • chronic granulomatous disease due to deficiency of NCF-1
    • deficiency of NCF1
    • deficiency of SOC2
    • deficiency of neutrophil cytosol factor 1
    • deficiency of p47-PHOX
    • deficiency of soluble oxidase component II
Homo sapiens (human)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Homo sapiens (human)
DOID:4257
  • Caffey disease
  • Aliases:
    • cortical congenital hyperostosis
    • infantile cortical hyperostosis
Homo sapiens (human)
DOID:0080576
  • spondyloepimetaphyseal dysplasia, Genevieve-type
Homo sapiens (human)
DOID:3374
  • peripheral osteosarcoma
  • Aliases:
    • Surface Osteosarcoma
Homo sapiens (human)
DOID:0112376
  • muscular dystrophy-dystroglycanopathy type B15
  • Aliases:
    • MDDGB15
    • congenital muscular dystrophy DPM3-related
Homo sapiens (human)
DOID:0050816
  • urofacial syndrome
  • Aliases:
    • Ochoa syndrome
    • hydronephrosis with peculiar facial expression
Mus musculus (house mouse)
DOID:3803
  • Crigler-Najjar syndrome
  • Aliases:
    • Bilirubin UDP glucuronyl transferase deficiency
    • Crigler Najjar syndrome
    • Crigler-Najjar syndrome, type I
Homo sapiens (human)
DOID:0060780
  • congenital diarrhea 6
  • Aliases:
    • chronic diarrhea due to guanylate cyclase 2C overactivity
    • chronic diarrhoea due to guanylate cyclase 2C overactivity
    • congenital diarrhoea 6
Homo sapiens (human)
DOID:12638
  • hypertrophic pyloric stenosis
  • Aliases:
    • congenital hypertrophic pyloric stenosis
    • congenital or infantile stricture of pylorus
Homo sapiens (human)
DOID:0070430
  • combined oxidative phosphorylation deficiency 57
  • Aliases:
    • COXPD57
Homo sapiens (human)
DOID:0080523
  • adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Aliases:
    • hereditary diffuse leukoencephalopathy with spheroids
Homo sapiens (human)
DOID:8704
  • genital herpes
  • Aliases:
    • Genital herpes simplex
    • Herpes Genitalis
    • Virus-Genital Herpes
    • venereal herpes
Homo sapiens (human)
DOID:0050770
  • polycystic liver disease
  • Aliases:
    • congenital cystic liver disease
    • congenital hepatic cyst
    • fibrocystic liver disease
Xenopus tropicalis (tropical clawed frog)
DOID:0080560
  • congenital disorder of glycosylation Ih
  • Aliases:
    • congenital disorder of glycosylation 1h
Xenopus tropicalis (tropical clawed frog)

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Last updated: August 19, 2024