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 4601 - 4625 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:402
  • oral tuberculosis
Homo sapiens (human)
DOID:0080021
  • Schmid metaphyseal chondrodysplasia
  • Aliases:
    • Japanese type spondylometaphyseal dysplasia
    • Schmid type metaphyseal dysplasia
Homo sapiens (human)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Mus musculus (house mouse)
DOID:0050568
  • spondylocostal dysostosis
  • Aliases:
    • Jarcho-Levin syndrome
    • costovertebral dysplasia
    • spondylothoracic dysostosis
    • spondylothoracic dysplasia
Homo sapiens (human)
DOID:0050719
  • cerebral folate receptor alpha deficiency
  • Aliases:
    • Neurodegeneration due to cerebral folate transport deficiency
Homo sapiens (human)
DOID:363
  • uterine cancer
  • Aliases:
    • CA - cancer of uterus
    • Tumour of uterus
    • malignant neoplasm of uterus
    • malignant uterine tumor
    • neoplasm of uterus
    • uterine tumor
    • uterus neoplasm
Homo sapiens (human)
DOID:9565
  • dextrocardia
  • Aliases:
    • Heart predominantly in right hemithorax
Homo sapiens (human)
DOID:0081122
  • Catel Manzke syndrome
  • Aliases:
    • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
    • Micrognathia digital syndrome
Homo sapiens (human)
DOID:7475
  • diverticulitis
Homo sapiens (human)
DOID:11843
  • coronary artery anomaly
  • Aliases:
    • Congenital anomaly of coronary artery
    • Coronary artery abnormality
    • Coronary artery anomaly, congenital
Homo sapiens (human)
DOID:0080537
  • hypermanganesemia with dystonia 2
Homo sapiens (human)
DOID:0111266
  • geroderma osteodysplasticum
  • Aliases:
    • GO
    • Walt Disney dwarfism
    • geroderma osteodysplastica
    • gerodermia osteodysplastica
Homo sapiens (human)
DOID:0111056
  • platelet-type bleeding disorder 3
  • Aliases:
    • BDPLT3
    • PT-VWD
    • platelet type-von Willebrand disease
    • pseudo-von Willebrand disease
    • von Willebrand disease platelet-type
Homo sapiens (human)
DOID:0111057
  • platelet-type bleeding disorder 11
  • Aliases:
    • BDPLT11
    • GP VI deficiency
    • glycoprotein VI deficiency
Homo sapiens (human)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Homo sapiens (human)
DOID:0111045
  • platelet-type bleeding disorder 9
  • Aliases:
    • BDPLT9
    • GP Ia deficiency
    • collagen platelet receptor deficiency
    • glycoprotein Ia deficiency
Homo sapiens (human)
DOID:0080564
  • congenital disorder of glycosylation Il
  • Aliases:
    • congenital disorder of glycosylation 1l
Homo sapiens (human)
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Homo sapiens (human)
DOID:0112171
  • wrinkly skin syndrome
  • Aliases:
    • WSS
Homo sapiens (human)
DOID:6245
  • renal oncocytoma
  • Aliases:
    • Oncocytoma of kidney
    • renal epithelial Oncocytic tumor
Homo sapiens (human)
DOID:0080216
  • duodenal atresia
Homo sapiens (human)
DOID:9423
  • blepharitis
Homo sapiens (human)
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Homo sapiens (human)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Mus musculus (house mouse)
DOID:683
  • motor neuritis
  • Aliases:
    • peripheral motor neuropathy
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024