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 3326 - 3350 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0080564
  • congenital disorder of glycosylation Il
  • Aliases:
    • congenital disorder of glycosylation 1l
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: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:0111266
  • geroderma osteodysplasticum
  • Aliases:
    • GO
    • Walt Disney dwarfism
    • geroderma osteodysplastica
    • gerodermia osteodysplastica
Homo sapiens (human)
DOID:0080537
  • hypermanganesemia with dystonia 2
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:7475
  • diverticulitis
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:9565
  • dextrocardia
  • Aliases:
    • Heart predominantly in right hemithorax
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:0050719
  • cerebral folate receptor alpha deficiency
  • Aliases:
    • Neurodegeneration due to cerebral folate transport deficiency
Homo sapiens (human)
DOID:0050568
  • spondylocostal dysostosis
  • Aliases:
    • Jarcho-Levin syndrome
    • costovertebral dysplasia
    • spondylothoracic dysostosis
    • spondylothoracic dysplasia
Homo sapiens (human)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Mus musculus (house mouse)
DOID:0080021
  • Schmid metaphyseal chondrodysplasia
  • Aliases:
    • Japanese type spondylometaphyseal dysplasia
    • Schmid type metaphyseal dysplasia
Homo sapiens (human)
DOID:402
  • oral tuberculosis
Homo sapiens (human)
DOID:0060451
  • Meesmann corneal dystrophy
  • Aliases:
    • MECD
    • Stocker-Holt dystrophy
    • juvenile hereditary epithelial dystrophy
Homo sapiens (human)
DOID:0111157
  • Castleman disease
  • Aliases:
    • angiofollicular lymph hyperplasia
    • angiofollicular lymph node hyperplasia
    • giant lymph node hyperplasia
    • lymphoid hamartoma
Homo sapiens (human)
DOID:7365
  • Kimura disease
  • Aliases:
    • Kimura's disease
Homo sapiens (human)
DOID:13133
  • HELLP syndrome
Homo sapiens (human)
DOID:0060653
  • lethal congenital contracture syndrome 3
  • Aliases:
    • Israeli Bedouin type B multiple contracture syndrome
Homo sapiens (human)
DOID:0060462
  • Desbuquois dysplasia
  • Aliases:
    • Desbuquois syndrome
    • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Mus musculus (house mouse)
DOID:0070385
  • developmental and epileptic encephalopathy 99
  • Aliases:
    • DEE99
    • early infantile epileptic encephalopathy 99
Mus musculus (house mouse)
DOID:0090056
  • dystonia 12
Mus musculus (house mouse)

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Last updated: August 19, 2024