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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 6301 - 6325 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0070124
  • congenital nongoitrous hypothyroidism 2
  • Aliases:
    • CHNG2
    • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Homo sapiens (human)
DOID:1100
  • ovarian disease
Saccharomyces cerevisiae S288C
DOID:0070024
  • autosomal recessive dyskeratosis congenita 6
  • Aliases:
    • DKCB6
Homo sapiens (human)
DOID:0060370
  • Parkinson's disease 7
  • Aliases:
    • autosomal recessive early-onset Parkinson disease 7
    • autosomal recessive early-onset Parkinson's disease 7
Homo sapiens (human)
DOID:0060894
  • early-onset Parkinson's disease
  • Aliases:
    • early-onset Parkinson disease
Homo sapiens (human)
DOID:0050812
  • spondyloepimetaphyseal dysplasia, Pakistani type
  • Aliases:
    • spondyloepimetaphyseal dysplasia Pakistani type
Homo sapiens (human)
DOID:3981
  • pantothenate kinase-associated neurodegeneration
  • Aliases:
    • Hallervorden-Spatz disease
    • Hallervorden-Spatz syndrome
    • NBIA1
    • Pigmentary pallidal degeneration
    • brain Iron Accumulation type I syndrome
    • neurodegeneration with brain iron accumulation 1
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Saccharomyces cerevisiae S288C
DOID:0111094
  • Fanconi anemia complementation group N
  • Aliases:
    • FANCN
Homo sapiens (human)
DOID:0112051
  • non-syndromic X-linked intellectual disability 30
  • Aliases:
    • MRX30
    • MRX47
    • X-linked mental retardation 30
    • X-linked mental retardation 30/47
    • X-linked mental retardation 47
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
Homo sapiens (human)
DOID:0080446
  • developmental and epileptic encephalopathy 66
  • Aliases:
    • DEE66
    • early infantile epileptic encephalopathy 66
Homo sapiens (human)
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Homo sapiens (human)
DOID:0060348
  • hypoparathyroidism-retardation-dysmorphism syndrome
  • Aliases:
    • HRD syndrome
    • Sanjad-Sakati syndrome
    • hypoparathyroidism with short stature, mental retardation and seizures
Saccharomyces cerevisiae S288C
DOID:11199
  • hypoparathyroidism
Saccharomyces cerevisiae S288C
DOID:0080722
  • Kenny-Caffey syndrome type 1
Saccharomyces cerevisiae S288C
DOID:11719
  • oculopharyngeal muscular dystrophy
  • Aliases:
    • Muscular dystrophy, oculopharyngeal
Homo sapiens (human)
DOID:0060438
  • Cole-Carpenter syndrome
Homo sapiens (human)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Mus musculus (house mouse)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Rattus norvegicus (Norway rat)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Homo sapiens (human)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Mus musculus (house mouse)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Rattus norvegicus (Norway rat)
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Mus musculus (house mouse)
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024