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 14901 - 14925 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:14219
  • renal tubular acidosis
Homo sapiens (human)
DOID:0112105
  • X-linked parkinsonism-spasticity syndrome
  • Aliases:
    • X-linked Parkinsonism with spasticity
    • XPDS
Drosophila melanogaster (fruit fly)
DOID:0060806
  • syndromic X-linked intellectual disability Hedera type
  • Aliases:
    • MRXE
    • MRXSH
    • X-linked mental retardation with epilepsy
    • mental retardation, X-linked, syndromic, Hedera type
Drosophila melanogaster (fruit fly)
DOID:0060309
  • syndromic X-linked intellectual disability
  • Aliases:
    • syndromic X-linked mental retardation
Drosophila melanogaster (fruit fly)
DOID:0050571
  • congenital disorder of glycosylation type II
Drosophila melanogaster (fruit fly)
DOID:5212
  • congenital disorder of glycosylation
  • Aliases:
    • carbohydrate-deficient glycoprotein syndrome
Drosophila melanogaster (fruit fly)
DOID:10763
  • hypertension
  • Aliases:
    • HTN
    • hyperpiesia
    • vascular hypertensive disorder
Drosophila melanogaster (fruit fly)
DOID:0112105
  • X-linked parkinsonism-spasticity syndrome
  • Aliases:
    • X-linked Parkinsonism with spasticity
    • XPDS
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:0070461
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
  • Aliases:
    • MC5DN4A
Homo sapiens (human)
DOID:0070462
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
  • Aliases:
    • MC5DN4B
Homo sapiens (human)
DOID:0111498
  • combined oxidative phosphorylation deficiency 22
  • Aliases:
    • COXPD22
Homo sapiens (human)
DOID:8725
  • vascular dementia
  • Aliases:
    • Multi Infarct Dementia
    • multifocal dementia
Homo sapiens (human)
DOID:0040090
  • autoimmune gastritis
Homo sapiens (human)
DOID:8929
  • atrophic gastritis
  • Aliases:
    • gastric atrophy
Homo sapiens (human)
DOID:0050429
  • Hailey-Hailey disease
  • Aliases:
    • BENIGN CHRONIC PEMPHIGUS
    • Pemphigus, Benign Familial
Homo sapiens (human)
DOID:543
  • dystonia
  • Aliases:
    • dystonic disease
Homo sapiens (human)
DOID:0050692
  • Brody myopathy
Homo sapiens (human)
DOID:0070384
  • developmental and epileptic encephalopathy 98
  • Aliases:
    • DEE98
    • early infantile epileptic encephalopathy 98
Homo sapiens (human)
DOID:0050635
  • alternating hemiplegia of childhood
  • Aliases:
    • AHC
Homo sapiens (human)
DOID:0111182
  • familial hemiplegic migraine 2
  • Aliases:
    • FHM2
    • Familial hemiplegic migraine-2
    • MHP2
Homo sapiens (human)
DOID:14264
  • benign neonatal seizures
  • Aliases:
    • benign familial neonatal seizures
    • benign neonatal convulsions
Homo sapiens (human)
DOID:10024
  • migraine with aura
  • Aliases:
    • classic migraine
Homo sapiens (human)
DOID:0111558
  • Charcot-Marie-Tooth disease type 2DD
  • Aliases:
    • ATP1A1-related CMT2
    • ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
    • CMT2DD
    • Charcot-Marie-Tooth disease, axonal, type 2DD
    • Charcot-Marie-Tooth neuropathy, type 2DD
Homo sapiens (human)
DOID:863
  • nervous system disease
Homo sapiens (human)

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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