GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1826 - 1850 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0111253
  • neurofibromatosis 1
  • Aliases:
    • NF1
    • Peripheral Neurofibromatosis
    • Recklinghausen's neurofibromatosis
    • neurofibromatosis type I
    • von Recklinghausen Disease
Homo sapiens (human)
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:0111256
  • hyperferritinemia-cataract syndrome
  • Aliases:
    • Bonneau-Beaumont syndrome
    • HHCS
    • HRFTC
    • cataract-hyperferritinemia syndrome
    • hereditary hyperferritinemia with congenital cataracts
    • hereditary hyperferritinemia-cataract syndrome
    • hyperferritinemia with or without cataract
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:0111266
  • geroderma osteodysplasticum
  • Aliases:
    • GO
    • Walt Disney dwarfism
    • geroderma osteodysplastica
    • gerodermia osteodysplastica
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: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:0111277
  • mitochondrial trifunctional protein deficiency
  • Aliases:
    • MTPD
    • TFP deficiency
    • TFPD
Homo sapiens (human)
DOID:0111313
  • idiopathic generalized epilepsy 12
  • Aliases:
    • EIG12
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
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:0111350
  • Laurin-Sandrow syndrome
  • Aliases:
    • MIPduplication of fibuland ulna with absence of tibia and radius
    • Sandrow syndrome
    • TMIP
    • miccor hands and feet with nasal defects
    • mirror hands and feets-nasal defects syndrome
    • mirror-image polydactyly
    • tetramelic mirror-image polydactyly
Homo sapiens (human)
DOID:0111351
  • D-2-hydroxyglutaric aciduria 1
  • Aliases:
    • D2HGA1
Homo sapiens (human)
DOID:0111352
  • D-2-hydroxyglutaric aciduria 2
  • Aliases:
    • D2HGA2
Homo sapiens (human)

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Last updated: August 19, 2024