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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 10651 - 10675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0110672
  • congenital myasthenic syndrome 21
  • Aliases:
    • CMS21
    • congenital myasthenic syndrome 21, presynaptic
Homo sapiens (human)
DOID:0070261
  • congenital disorder of glycosylation type IIi
  • Aliases:
    • CDG IIi
    • CDG syndrome type IIi
    • CDG2I
    • CDGIIdi
    • COG5-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIi
    • Congenital disorder of glycosylation type 2i
Homo sapiens (human)
DOID:0112158
  • De Sanctis-Cacchione syndrome
  • Aliases:
    • xeroderma pigmentosum with neurologic manifestation
Homo sapiens (human)
DOID:0081116
  • benign familial infantile seizures 3
  • Aliases:
    • Benign Familial Infantile Seizures, 3
    • benign familial neonatal-infantile seizures
Homo sapiens (human)
DOID:1123
  • spondyloarthropathy
  • Aliases:
    • spondarthropathy
    • spondylarthrosis
Homo sapiens (human)
DOID:4997
  • Camurati-Engelmann disease
  • Aliases:
    • Diaphyseal dysplasia
    • Engelman's disease
    • progressive diaphyseal dysplasia
Homo sapiens (human)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Homo sapiens (human)
DOID:0081378
  • amyotrophic lateral sclerosis type 24
Homo sapiens (human)
DOID:0080776
  • partial androgen insensitivity syndrome
  • Aliases:
    • Reifenstein syndrome
Homo sapiens (human)
DOID:0081355
  • congenital myopathy 22B
Homo sapiens (human)
DOID:0060750
  • familial temporal lobe epilepsy 3
  • Aliases:
    • FMTLE
    • familial mesial temporal lobe epilepsy
Homo sapiens (human)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Homo sapiens (human)
DOID:0080160
  • Cytomegalovirus retinitis
  • Aliases:
    • CMV retinitis
Homo sapiens (human)
DOID:0111821
  • ichthyosis follicularis-alopecia-photophobia syndrome 1
  • Aliases:
    • IFAP syndrome 1
    • IFAP syndrome 1 with or without BRESHECK syndrome
    • ichthyosis follicularis-atrichia-photophobia syndrome 1
Homo sapiens (human)
DOID:0111471
  • combined oxidative phosphorylation deficiency 30
  • Aliases:
    • COXPD30
Homo sapiens (human)
DOID:14749
  • methylmalonic acidemia
  • Aliases:
    • methylmalonic aciduria
Homo sapiens (human)
DOID:10811
  • nasal cavity cancer
  • Aliases:
    • malignant neoplasm of nasal cavities
    • malignant tumor of the nasal cavity
Homo sapiens (human)
DOID:0050824
  • sinoatrial node disease
  • Aliases:
    • SA node
    • sinuatrial node
Homo sapiens (human)
DOID:0080460
  • developmental and epileptic encephalopathy 34
  • Aliases:
    • DEE34
    • early infantile epileptic encephalopathy 34
Homo sapiens (human)
DOID:0111932
  • severe congenital encephalopathy due to MECP2 mutation
  • Aliases:
    • neonatal severe encephalopathy due to MECP2 mutations
    • severe neonatal-onset encephalopathy with microcephaly
Homo sapiens (human)
DOID:14503
  • neuronal ceroid lipofuscinosis
  • Aliases:
    • hereditary ceroid lipofuscinosis
Homo sapiens (human)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Homo sapiens (human)
DOID:0110482
  • autosomal recessive nonsyndromic deafness 24
  • Aliases:
    • DFNB24
    • autosomal recessive deafness 24
Homo sapiens (human)
DOID:0080925
  • cytochrome P450 oxidoreductase deficiency
Homo sapiens (human)
DOID:1579
  • respiratory system disease
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