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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 3051 - 3075 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111253
  • neurofibromatosis 1
  • Aliases:
    • NF1
    • Peripheral Neurofibromatosis
    • Recklinghausen's neurofibromatosis
    • neurofibromatosis type I
    • von Recklinghausen Disease
Homo sapiens (human)
DOID:0111253
  • neurofibromatosis 1
  • Aliases:
    • NF1
    • Peripheral Neurofibromatosis
    • Recklinghausen's neurofibromatosis
    • neurofibromatosis type I
    • von Recklinghausen Disease
Mus musculus (house mouse)
DOID:0111254
  • glutaric acidemia I
  • Aliases:
    • GA1
    • glutaric academia type 1
    • glutaric aciduria 1
    • glutaric aciduria type I
    • glutaryl-coA dehydrogenase deficiency
    • glutaryl-coenzyme A dehydrogenase deficiency
Homo sapiens (human)
DOID:0111257
  • gamma-glutamyl transpeptidase deficiency
  • Aliases:
    • GGT deficiency
    • GGT1 deficiency
    • GTG deficiency
    • gamma-glutamyl transferase deficiency
    • glutathionuria
Homo sapiens (human)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Homo sapiens (human)
DOID:0111260
  • phosphoribosylpyrophosphate synthetase superactivity
  • Aliases:
    • PRPP synthetase superactivity
    • PRPS1 superactivity
Homo sapiens (human)
DOID:0111261
  • fumarase deficiency
  • Aliases:
    • FMRD
    • fumaric aciduria
Homo sapiens (human)
DOID:0111263
  • combined malonic and methylmalonic acidemia
  • Aliases:
    • CMAMMA
    • combined malonic and methylmalonic aciduria
Homo sapiens (human)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Homo sapiens (human)
DOID:0111268
  • autosomal recessive hyaline body myopathy
  • Aliases:
    • MSMB
    • Myopathy, myosin storage, autosomal recessive
    • congenital myopathy 7B
Homo sapiens (human)
DOID:0111269
  • autosomal dominant hyaline body myopathy
  • Aliases:
    • MSMA
    • Myopathy, myosin storage, autosomal dominant
    • congenital myopathy 7A
    • myopathy with lysis of type I myofibrils
Homo sapiens (human)
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Homo sapiens (human)
DOID:0111272
  • occipital horn syndrome
  • Aliases:
    • EDS IX
    • Ehlers-Danlos syndrome type 9
    • Ehlers-Danlos syndrome type IX
    • X-linked cutis laxa
Homo sapiens (human)
DOID:0111274
  • CODAS syndrome
  • Aliases:
    • cerebral, ocular, dental, auricular, and skeletal syndrome
    • cerebro-oculo-dento-auriculo-skeletal syndrome
Homo sapiens (human)
DOID:0111275
  • speech-language disorder-1
  • Aliases:
    • CAS
    • articulatory apraxia
    • childhood apraxia of speech
    • developmental apraxia of speech
    • developmental verbal dyspraxia
    • speech and language disorder with orofacial dyspraxia
    • speech-language disorder type 1
Homo sapiens (human)
DOID:0111278
  • histiocytosis-lymphadenopathy plus syndrome
  • Aliases:
    • Faisalabad histiocytosis
    • H syndrome
    • HJCD
    • PHID
    • Rosai–Dorfman disease
    • SHML
    • cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
    • familial Rosai-Dorfman disease
    • histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
    • histiocytosis with joint contractures and sensorineural deafness
    • pigmented hypertrichosis with insulin-dependent diabetes mellitus
    • sinus histiocytosis and massive lymphadenopathy
Homo sapiens (human)
DOID:0111279
  • psoriasis 7
  • Aliases:
    • PSORS7
Homo sapiens (human)
DOID:0111286
  • psoriasis 1
  • Aliases:
    • PSORS1
Homo sapiens (human)
DOID:0111287
  • psoriasis 13
  • Aliases:
    • PSORS13
Homo sapiens (human)
DOID:0111292
  • obsolete idiopathic generalized epilepsy 10
Homo sapiens (human)
DOID:0111294
  • generalized epilepsy with febrile seizures plus 2
  • Aliases:
    • GEFS+2
    • GEFSP2
    • generalised epilepsy with febrile seizures plus 2
    • generalised epilepsy with febrile seizures plus type 2
    • generalized epilepsy with febrile seizures plus type 2
Drosophila melanogaster (fruit fly)
DOID:0111294
  • generalized epilepsy with febrile seizures plus 2
  • Aliases:
    • GEFS+2
    • GEFSP2
    • generalised epilepsy with febrile seizures plus 2
    • generalised epilepsy with febrile seizures plus type 2
    • generalized epilepsy with febrile seizures plus type 2
Homo sapiens (human)
DOID:0111296
  • generalized epilepsy with febrile seizures plus 10
  • Aliases:
    • GEFS+10
    • GEFSP10
    • generalised epilepsy with febrile seizures plus 10
    • generalised epilepsy with febrile seizures plus type 10
    • generalized epilepsy with febrile seizures plus type 10
Homo sapiens (human)
DOID:0111298
  • familial febrile seizures 8
  • Aliases:
    • FEB8
    • familial febrile convulsions 8
Homo sapiens (human)
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
Homo sapiens (human)
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