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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 3526 - 3550 of 4649 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Homo sapiens (human)
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Homo sapiens (human)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Homo sapiens (human)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Homo sapiens (human)
DOID:0060438
  • Cole-Carpenter syndrome
Homo sapiens (human)
DOID:11719
  • oculopharyngeal muscular dystrophy
  • Aliases:
    • Muscular dystrophy, oculopharyngeal
Homo sapiens (human)
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Homo sapiens (human)
DOID:0080446
  • developmental and epileptic encephalopathy 66
  • Aliases:
    • DEE66
    • early infantile epileptic encephalopathy 66
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
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:0111094
  • Fanconi anemia complementation group N
  • Aliases:
    • FANCN
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:0050812
  • spondyloepimetaphyseal dysplasia, Pakistani type
  • Aliases:
    • spondyloepimetaphyseal dysplasia Pakistani type
Homo sapiens (human)
DOID:0060894
  • early-onset Parkinson's disease
  • Aliases:
    • early-onset Parkinson disease
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:0070024
  • autosomal recessive dyskeratosis congenita 6
  • Aliases:
    • DKCB6
Homo sapiens (human)
DOID:0070124
  • congenital nongoitrous hypothyroidism 2
  • Aliases:
    • CHNG2
    • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Homo sapiens (human)
DOID:3651
  • pyruvate carboxylase deficiency disease
  • Aliases:
    • deficiency of pyruvic carboxylase
Homo sapiens (human)
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Homo sapiens (human)
DOID:0110481
  • autosomal recessive nonsyndromic deafness 23
  • Aliases:
    • DFNB23
    • autosomal recessive deafness 23
Homo sapiens (human)
DOID:0110832
  • Usher syndrome type 1F
  • Aliases:
    • USH1F
    • Usher syndrome type IF
Homo sapiens (human)
DOID:0060848
  • developmental and epileptic encephalopathy 9
  • Aliases:
    • DEE9
    • EFMR
    • EIEE9
    • Juberg Hellman syndrome
    • early infantile epileptic encephalopathy 9
    • early infantile female-limited epilecptic encephalopathy
    • female restricted epilepsy with mental retardation
Homo sapiens (human)
DOID:0060272
  • pontocerebellar hypoplasia type 3
Homo sapiens (human)
DOID:0081385
  • ataxia-telangiectasia-like disorder-2
  • Aliases:
    • PCNA-related progressive neurodegenerative photosensitivity syndrome
Homo sapiens (human)
DOID:0060609
  • microcephalic osteodysplastic primordial dwarfism type II
  • Aliases:
    • Majewski osteodysplastic primordial dwarfism type II
    • osteodysplastic primordial dwarfism type II
Homo sapiens (human)
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Last updated: February 17, 2025