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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3076 - 3100 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111305
  • familial febrile seizures 4
  • Aliases:
    • FEB4
    • familial febrile convulsions 4
Homo sapiens (human)
DOID:0111308
  • familial febrile seizures 11
  • Aliases:
    • FEB11
    • familial febrile convulsions 11
Homo sapiens (human)
DOID:0111310
  • familial febrile seizures 2
  • Aliases:
    • FEB2
    • familial febrile convulsions 2
Homo sapiens (human)
DOID:0111312
  • obsolete idiopathic generalized epilepsy 11
Homo sapiens (human)
DOID:0111313
  • obsolete idiopathic generalized epilepsy 12
  • Aliases:
    • EIG12
Homo sapiens (human)
DOID:0111314
  • obsolete idiopathic generalized epilepsy 13
Homo sapiens (human)
DOID:0111315
  • obsolete idiopathic generalized epilepsy 14
Homo sapiens (human)
DOID:0111322
  • obsolete idiopathic generalized epilepsy 8
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Mus musculus (house mouse)
DOID:0111331
  • intellectual disability-severe speech delay-mild dysmorphism syndrome
  • Aliases:
    • FOXP1 Haploinsufficiency
    • FOXP1 syndrome
    • FOXP1-Related Neurodevelopmental Disorder
    • Mental retardation with language impairment and with or without autistic features
Homo sapiens (human)
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Homo sapiens (human)
DOID:0111333
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Aliases:
    • EMARDD
    • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
    • congenital myopathy 10A
Homo sapiens (human)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Homo sapiens (human)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Homo sapiens (human)
DOID:0111338
  • isolated elevated serum creatine phosphokinase levels
  • Aliases:
    • elevated serum CPK
    • idiopathic hyperCKemia
    • isolated hyperCKemia
Homo sapiens (human)
DOID:0111340
  • dominant optic atrophy plus syndrome
  • Aliases:
    • DOA+
    • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Homo sapiens (human)
DOID:0111341
  • primary failure of tooth eruption
  • Aliases:
    • PFE
    • dental noneruption
    • familial posterior openbite malocclusion
    • nonsyndromic primary failure of eruption
    • primary retention of teeth
    • unerupted second primary molar
Homo sapiens (human)
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Homo sapiens (human)
DOID:0111344
  • myeloproliferative disorder with eosinophilia
  • Aliases:
    • chronic myeloproliferative disorder with eosinophilia
Homo sapiens (human)
DOID:0111345
  • transient bullous dermolysis of the newborn
  • Aliases:
    • DEB, bullous dermolysis of the newborn
    • DEB-BDN
Homo sapiens (human)
DOID:0111346
  • epidermolysis bullosa simplex with mottled pigmentation
  • Aliases:
    • EBSMP
    • Epidermolysis bullosa simplex-MP
    • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Homo sapiens (human)
DOID:0111347
  • epidermolysis bullosa with congenital localized absence of skin and deformity of nails
  • Aliases:
    • EBD, Bart type
    • epidermolysis bullosa dystrophica, Bart type
Homo sapiens (human)
DOID:0111348
  • multiple epiphyseal dysplasia with myopia and deafness
  • Aliases:
    • EDMMD
    • multiple epiphyseal dysplasia, Beighton type
    • multiple epiphyseal dysplasia-myopia-deafness syndrome
Homo sapiens (human)
DOID:0111349
  • hereditary desmoid disease
  • Aliases:
    • FIF
    • familial infiltrative fibromatosis
Homo sapiens (human)
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Last updated: December 8, 2025