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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 8651 - 8675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0070357
  • nephrotic syndrome type 20
Homo sapiens (human)
DOID:0060301
  • type I complement component 8 deficiency
Mus musculus (house mouse)
DOID:0081216
  • autosomal recessive intellectual developmental disorder 54
Homo sapiens (human)
DOID:0070394
  • developmental and epileptic encephalopathy 108
  • Aliases:
    • DEE108
    • early infantile epileptic encephalopathy 108
Homo sapiens (human)
DOID:0080435
  • developmental and epileptic encephalopathy 37
  • Aliases:
    • DEE37
    • early infantile epileptic encephalopathy 37
Mus musculus (house mouse)
DOID:11589
  • Riley-Day syndrome
  • Aliases:
    • HSAN III
    • familial autonomic nervous dysfunction
    • familial dysautonomia
Mus musculus (house mouse)
DOID:4667
  • kyphosis
  • Aliases:
    • Kyphosis deformity of spine
Mus musculus (house mouse)
DOID:0050120
  • hemophagocytic lymphohistiocytosis
  • Aliases:
    • haemophagocytic syndrome
Mus musculus (house mouse)
DOID:0110366
  • retinitis pigmentosa 33
  • Aliases:
    • RP33
Homo sapiens (human)
DOID:0081397
  • Vissers-Bodmer syndrome
Homo sapiens (human)
DOID:0081398
  • holoprosencephaly 12
  • Aliases:
    • holoprosencephaly-12 with or without pancreatic agenesis
Homo sapiens (human)
DOID:9869
  • hereditary fructose intolerance syndrome
  • Aliases:
    • Fructosaemia
    • Fructose-1,6-bisphosphate aldolase B deficiency
    • Fructosemia
Mus musculus (house mouse)
DOID:0080050
  • acromesomelic dysplasia, Maroteaux type
  • Aliases:
    • acromesomelic dysplasia-1
Mus musculus (house mouse)
DOID:0070316
  • Miura type epiphyseal chondrodysplasia
  • Aliases:
    • ECDM
    • tall stature-scoliosis-macrodactyly of the great toes syndrome
    • tall stature-scoliosis-macrodactyly of the halluces syndrome
Mus musculus (house mouse)
DOID:0110798
  • hereditary spastic paraplegia 46
  • Aliases:
    • SPG46
    • autosomal recessive spastic paraplegia 46
    • autosomal recessive spastic paraplegia type 46
Mus musculus (house mouse)
DOID:4621
  • holoprosencephaly
  • Aliases:
    • Holoprosencephaly sequence
Homo sapiens (human)
DOID:0111127
  • nephronophthisis 20
  • Aliases:
    • NPHP20
Homo sapiens (human)
DOID:0070293
  • primary autosomal recessive microcephaly 2 with or without cortical malformations
  • Aliases:
    • MCPH2
Homo sapiens (human)
DOID:0070295
  • primary autosomal dominant microcephaly 18
  • Aliases:
    • MCPH18
Homo sapiens (human)
DOID:438
  • autoimmune disease of the nervous system
Homo sapiens (human)
DOID:0070012
  • Seckel syndrome 5
  • Aliases:
    • SCKL5
Homo sapiens (human)
DOID:0070292
  • primary autosomal recessive microcephaly 9
  • Aliases:
    • MCPH9
Homo sapiens (human)
DOID:0111269
  • autosomal dominant hyaline body myopathy
  • Aliases:
    • MSMA
    • Myopathy, myosin storage, autosomal dominant
    • congenital myopathy 7A
    • myopathy with lysis of type I myofibrils
Homo sapiens (human)
DOID:2106
  • myotonia congenita
  • Aliases:
    • Batten Turner congenital myopathy
    • Thomsen and Becker disease
Homo sapiens (human)
DOID:0110454
  • dilated cardiomyopathy 1S
  • Aliases:
    • CMD1S
Homo sapiens (human)
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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