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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 12226 - 12250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:7725
  • epilepsy with generalized tonic-clonic seizures
  • Aliases:
    • Epileptic seizures, tonic-clonic
    • Grand Mal epilepsy
    • tonic-clonic epilepsy
Mus musculus (house mouse)
DOID:0110484
  • autosomal recessive nonsyndromic deafness 26
  • Aliases:
    • DFNB26
    • autosomal recessive deafness 26
Mus musculus (house mouse)
DOID:2752
  • glycogen storage disease II
  • Aliases:
    • Generalized glycogenosis
    • Glycogen storage disease 2
    • Glycogen storage disease, type II
    • Glycogenosis, type 2
    • Lysosomal alpha-1,4-glucosidase deficiency
    • Pompe's disease
    • acid maltase deficiency
    • deficiency of glucoamylase
    • deficiency of maltase
    • glycogen storage disease type II
Mus musculus (house mouse)
DOID:13628
  • favism
Mus musculus (house mouse)
DOID:2383
  • neonatal jaundice
  • Aliases:
    • neonatal hyperbilirubinemia
    • neonatal icterus
Mus musculus (house mouse)
DOID:9281
  • phenylketonuria
  • Aliases:
    • Folling's disease
    • PKU
    • maternal phenylketonuria
    • phenylalaninemia
Mus musculus (house mouse)
DOID:2749
  • glycogen storage disease Ia
Mus musculus (house mouse)
DOID:0110860
  • polycystic kidney disease 3
  • Aliases:
    • Apkd3
    • Pkd3
    • Polycystic Kidney Disease, Adult, Type III
Mus musculus (house mouse)
DOID:11339
  • pneumocystosis
  • Aliases:
    • Pneumocystis carinii pneumonia
    • Pneumocystis jirovecii pneumonia
    • Pneumocystis pneumonia
    • Pneumocystosis pneumonia
    • pulmonary pneumocystosis
Homo sapiens (human)
DOID:0050458
  • juvenile myelomonocytic leukemia
Homo sapiens (human)
DOID:2799
  • bronchiolitis obliterans
  • Aliases:
    • Bronchiolitis exudativa
    • Bronchiolitis fibrosa obliterans
    • Obliterative bronchiolitis
Homo sapiens (human)
DOID:1227
  • neutropenia
Homo sapiens (human)
DOID:12120
  • pulmonary alveolar proteinosis
Homo sapiens (human)
DOID:0080079
  • nonsyndromic congenital nail disorder 1
  • Aliases:
    • nonsyndromic congenital nail disorder 10
    • twenty-nail dystrophy
Mus musculus (house mouse)
DOID:12270
  • coloboma
  • Aliases:
    • coloboma of eye
    • coloboma of macula
    • congenital ocular coloboma
Mus musculus (house mouse)
DOID:0060844
  • Norrie disease
  • Aliases:
    • Episkopi blindness
    • Norrie-Warburg disease
    • atrophia bulborum hereditaria
Mus musculus (house mouse)
DOID:0111412
  • exudative vitreoretinopathy 1
  • Aliases:
    • EVR1
Mus musculus (house mouse)
DOID:0080523
  • adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Aliases:
    • hereditary diffuse leukoencephalopathy with spheroids
Homo sapiens (human)
DOID:0070343
  • CSF1R-related brain malformation and osteopetrosis
  • Aliases:
    • osteoporosis and infantile neuroaxonal dystrophy
Homo sapiens (human)
DOID:9253
  • gastrointestinal stromal tumor
  • Aliases:
    • GANT
    • GIST
    • Stromal tumor of gastrointestinal tract
    • Stromal tumour of gastrointestinal tract
    • gastrointestinal stromal tumour
Homo sapiens (human)
DOID:0080006
  • bone development disease
Homo sapiens (human)
DOID:13139
  • crescentic glomerulonephritis
Homo sapiens (human)
DOID:614
  • lymphopenia
  • Aliases:
    • Lymphocytopenia
Homo sapiens (human)
DOID:0081343
  • congenital myopathy 9A
Mus musculus (house mouse)
DOID:0081344
  • congenital myopathy 9B
Mus musculus (house mouse)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024