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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 6626 - 6650 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:14365
  • systemic primary carnitine deficiency disease
  • Aliases:
    • carnitine transporter deficiency
    • carnitine uptake defect
    • deficiency of plasma-membrane carnitine transporter
    • primary carnitine deficiency
    • renal carnitine transport defect
Rattus norvegicus (Norway rat)
DOID:0060770
  • dextro-looped transposition of the great arteries
  • Aliases:
    • D-TGA
    • DTGA1
    • congenitally uncorrected transposition of the great arteries
    • congenitally uncorrected transposition of the great vessels
    • isolated ventriculoarterial discordance
    • ventriculoarterial discordance with atrioventricular concordance
Rattus norvegicus (Norway rat)
DOID:0050659
  • biotin-responsive basal ganglia disease
Rattus norvegicus (Norway rat)
DOID:0070073
  • autosomal dominant intellectual developmental disorder 43
  • Aliases:
    • MRD43
    • autosomal dominant mental retardation 43
    • autosomal dominant non-syndromic intellectual disability 43
Rattus norvegicus (Norway rat)
DOID:0080445
  • developmental and epileptic encephalopathy 13
  • Aliases:
    • DEE13
    • early infantile epileptic encephalopathy 13
Rattus norvegicus (Norway rat)
DOID:0081118
  • benign familial infantile seizures 5
  • Aliases:
    • Benign Familial Infantile Seizures, 5
Rattus norvegicus (Norway rat)
DOID:0112210
  • developmental and epileptic encephalopathy 74
  • Aliases:
    • DEE74
    • early infantile epileptic encephalopathy 74
Rattus norvegicus (Norway rat)
DOID:0111298
  • familial febrile seizures 8
  • Aliases:
    • FEB8
    • familial febrile convulsions 8
Rattus norvegicus (Norway rat)
DOID:0112215
  • developmental and epileptic encephalopathy 79
  • Aliases:
    • DEE79
    • early infantile epileptic encephalopathy 79
Rattus norvegicus (Norway rat)
DOID:0111314
  • idiopathic generalized epilepsy 13
  • Aliases:
    • EIG13
Rattus norvegicus (Norway rat)
DOID:0080431
  • developmental and epileptic encephalopathy 19
  • Aliases:
    • DEE19
    • early infantile epileptic encephalopathy 19
Rattus norvegicus (Norway rat)
DOID:0090060
  • Wolcott-Rallison syndrome
Rattus norvegicus (Norway rat)
DOID:0070149
  • hereditary sensory and autonomic neuropathy type 7
  • Aliases:
    • HSAN7
    • hereditary sensory and autonomic neuropathy type VII
Rattus norvegicus (Norway rat)
DOID:0111731
  • familial episodic pain syndrome 3
  • Aliases:
    • FEPS3
Rattus norvegicus (Norway rat)
DOID:0111292
  • idiopathic generalized epilepsy 10
  • Aliases:
    • EIG10
Rattus norvegicus (Norway rat)
DOID:0112333
  • pontocerebellar hypoplasia type 16
  • Aliases:
    • PCH16
Rattus norvegicus (Norway rat)
DOID:0110222
  • Brugada syndrome 5
  • Aliases:
    • BRGDA5
Rattus norvegicus (Norway rat)
DOID:0080455
  • developmental and epileptic encephalopathy 52
  • Aliases:
    • DEE52
    • early infantile epileptic encephalopathy 52
Rattus norvegicus (Norway rat)
DOID:0111302
  • generalized epilepsy with febrile seizures plus 1
  • Aliases:
    • GEFS+1
    • GEFSP1
    • generalised epilepsy with febrile seizures plus 1
    • generalised epilepsy with febrile seizures plus type 1
    • generalized epilepsy with febrile seizures plus type 1
Rattus norvegicus (Norway rat)
DOID:8545
  • malignant hyperthermia
  • Aliases:
    • anesthesia related hyperthermia
    • malignant hyperpyrexia due to anesthesia
Rattus norvegicus (Norway rat)
DOID:1508
  • candidiasis
  • Aliases:
    • Disseminated candidiasis
    • systemic candidiasis
Rattus norvegicus (Norway rat)
DOID:0060258
  • reticulate acropigmentation of Kitamura
  • Aliases:
    • RAPK
Rattus norvegicus (Norway rat)
DOID:0110050
  • Alzheimer's disease 18
  • Aliases:
    • AD18
    • Alzheimer disease 18
    • Alzheimer's disease 18, late onset
Rattus norvegicus (Norway rat)
DOID:0080571
  • congenital disorder of glycosylation Iu
  • Aliases:
    • congenital disorder of glycosylation 1u
Rattus norvegicus (Norway rat)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024