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 1601 - 1625 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0111503
  • Li-Fraumeni syndrome 1
  • Aliases:
    • LFS1
Homo sapiens (human)
DOID:5766
  • pulmonary sclerosing hemangioma
  • Aliases:
    • Pneumocytoma
Homo sapiens (human)
DOID:4985
  • extraosseous Ewings sarcoma-primitive neuroepithelial tumor
  • Aliases:
    • extraosseous Ewing's tumor
    • extraosseous Ewing's tumour
    • extraosseous Ewings sarcoma-primitive neuroepithelial tumour
Homo sapiens (human)
DOID:10969
  • hemiplegia
  • Aliases:
    • Infantile hemiplegia
    • Postnatal infantile hemiplegia
Homo sapiens (human)
DOID:0110151
  • Charcot-Marie-Tooth disease type 1C
  • Aliases:
    • CMT slow nerve conduction type C
    • CMT1C
    • Charcot-Marie-Tooth neuropathy type 1C
    • HMSN IC
    • HMSN1C
    • neuropathy hereditary motor and sensory type 1C
Homo sapiens (human)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
Homo sapiens (human)
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Homo sapiens (human)
DOID:6603
  • Kummell's disease
  • Aliases:
    • Kummell disease
    • Kummell's spondylitis
    • Traumatic spondylopathy
Homo sapiens (human)
DOID:0060702
  • familial hypocalciuric hypercalcemia 3
  • Aliases:
    • FHH type 3
    • HHC3
    • familial hypocalciuric hypercalcemia type 3
    • hypocalciuric hypercalcemia type III
Homo sapiens (human)
DOID:3907
  • lung squamous cell carcinoma
  • Aliases:
    • Epidermoid cell carcinoma of the lung
Homo sapiens (human)
DOID:0080886
  • vitamin D-dependent rickets type 1A
Homo sapiens (human)
DOID:0060270
  • pontocerebellar hypoplasia type 2D
Homo sapiens (human)
DOID:331
  • central nervous system disease
Homo sapiens (human)
DOID:5750
  • endometrial serous adenocarcinoma
  • Aliases:
    • uterine corpus serous adenocarcinoma
    • uterine papillary serous carcinoma
    • uterine serous carcinoma
Homo sapiens (human)
DOID:9621
  • non-congenital cyst of kidney
Homo sapiens (human)
DOID:7465
  • chronic NK-cell lymphocytosis
  • Aliases:
    • NK-cell large granular Lymphocyte Lymphocytosis
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:9206
  • Barrett's esophagus
  • Aliases:
    • Barrett esophagus
    • Barrett's esophagus with esophagitis
    • Barrett's oesophagus
    • Barrett's ulcer of esophagus
    • Barretts syndrome
    • ulcerative esophagitis
Homo sapiens (human)
DOID:10605
  • short bowel syndrome
  • Aliases:
    • acquired short bowel syndrome
    • short gut syndrome
Homo sapiens (human)
DOID:4944
  • gastroesophageal junction adenocarcinoma
  • Aliases:
    • adenocarcinoma of Cardioesophageal junction
Homo sapiens (human)
DOID:11367
  • congenital aphakia
  • Aliases:
    • APHAKIA, CONGENITAL PRIMARY
    • Congenital absence of lens
Homo sapiens (human)
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:0081122
  • Catel Manzke syndrome
  • Aliases:
    • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
    • Micrognathia digital syndrome
Homo sapiens (human)
DOID:0050602
  • triple-A syndrome
  • Aliases:
    • AAAS
    • Achalasia-Addisonianism-Alacrimia syndrome
    • Allgrove Syndrome
Homo sapiens (human)
DOID:6128
  • gliomatosis cerebri
  • Aliases:
    • Astrocytosis cerebri
Homo sapiens (human)

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Last updated: August 19, 2024