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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 1226 - 1250 of 4649 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:11725
  • Cornelia de Lange syndrome
  • Aliases:
    • Brachmann de Lange syndrome
    • De Lange syndrome
Homo sapiens (human)
DOID:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
Homo sapiens (human)
DOID:0070011
  • Seckel syndrome 7
  • Aliases:
    • SCKL7
Homo sapiens (human)
DOID:0110272
  • cataract 40
  • Aliases:
    • CTRCT40
    • cataract 40 X-linked
    • cataract 40 with or without microcornea
Homo sapiens (human)
DOID:0060599
  • Nance-Horan syndrome
Homo sapiens (human)
DOID:0060728
  • NGLY1-deficiency
  • Aliases:
    • NGLY1-CDDG
    • congenital disorder of deglycosylation
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 1
Homo sapiens (human)
DOID:0070145
  • hereditary sensory and autonomic neuropathy type 5
  • Aliases:
    • HSAN5
    • hereditary sensory and autonomic neuropathy type V
Homo sapiens (human)
DOID:0080809
  • chronic asthma
Homo sapiens (human)
DOID:10685
  • separation anxiety disorder
Homo sapiens (human)
DOID:12143
  • neurogenic bladder
  • Aliases:
    • Neuropathic bladder
    • neurogenic dysfunction of the urinary bladder
    • neurogenic urinary bladder disorder
Homo sapiens (human)
DOID:431
  • myofascial pain syndrome
Homo sapiens (human)
DOID:0080133
  • multiple mitochondrial dysfunctions syndrome 1
  • Aliases:
    • NFU1 deficiency
Homo sapiens (human)
DOID:0070425
  • combined oxidative phosphorylation deficiency 52
  • Aliases:
    • COXPD52
Homo sapiens (human)
DOID:0081152
  • common variable immunodeficiency 10
Homo sapiens (human)
DOID:0081154
  • common variable immunodeficiency 12
Homo sapiens (human)
DOID:0050340
  • opportunistic bacterial infectious disease
Homo sapiens (human)
DOID:0050858
  • Marshall-Smith syndrome
Homo sapiens (human)
DOID:0112102
  • Sotos syndrome 2
  • Aliases:
    • SOTOS2
Homo sapiens (human)
DOID:0060409
  • NFIA-related disorder
  • Aliases:
    • 1p31p32 microdeletion syndrome
    • Chromosome 1, Monosomy 1p32
    • brain malformations with or without urinary tract defects
    • chromosome 1p32-p31 deletion syndrome
Homo sapiens (human)
DOID:4992
  • optic nerve glioma
  • Aliases:
    • glioma of the optic nerve
Homo sapiens (human)
DOID:8712
  • neurofibromatosis
Homo sapiens (human)
DOID:0070483
  • Watson syndrome
Homo sapiens (human)
DOID:0111683
  • neurofibromatosis-Noonan syndrome
  • Aliases:
    • NFNS
    • Noonan neurofibromatosis syndrome
    • neurofibromatosis type 1-Noonan syndrome
    • neurofibromatosis with Noonan phenotype
Homo sapiens (human)
DOID:5151
  • plexiform neurofibroma
Homo sapiens (human)
DOID:0070482
  • spinal neurofibromatosis
  • Aliases:
    • FNSF
    • SNF
    • familial spinal neurofibromatosis
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