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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 1001 - 1025 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Homo sapiens (human)
DOID:0070485
  • mitochondrial complex IV deficiency nuclear type 23
  • Aliases:
    • MC4DN23
Homo sapiens (human)
DOID:0070256
  • congenital disorder of glycosylation type IId
  • Aliases:
    • CDG IId
    • CDG2D
    • CDGIId
Rattus norvegicus (Norway rat)
DOID:9655
  • oral mucosa leukoplakia
Homo sapiens (human)
DOID:9164
  • achalasia
  • Aliases:
    • Lack of reflex relaxation of lower oesophageal sphincter
    • achalasia of cardia
    • achalasia of esophagus
    • cardiospasm
    • esophageal achalasia
    • hypertensive lower esophageal sphincter
Homo sapiens (human)
DOID:0060490
  • Schimke immuno-osseous dysplasia
  • Aliases:
    • Schimke immunoosseous dysplasia
    • Schimke syndrome
    • immunoosseous dysplasia Schimke type
    • spondyloepiphyseal dysplasia - nephrotic syndrome
Homo sapiens (human)
DOID:0110214
  • cleft soft palate
  • Aliases:
    • cleft velum
    • cleft velum palatinum
    • soft cleft palate
Rattus norvegicus (Norway rat)
DOID:0080456
  • developmental and epileptic encephalopathy 46
  • Aliases:
    • DEE46
    • early infantile epileptic encephalopathy 46
Mus musculus (house mouse)
DOID:8544
  • chronic fatigue syndrome
  • Aliases:
    • CFS
    • Myalgic encephalitis
    • Myalgic encephalomyelitis
    • Postviral fatigue syndrome
Homo sapiens (human)
DOID:13809
  • familial combined hyperlipidemia
  • Aliases:
    • familial multiple lipoprotein-type hyperlipidemia
    • hyperbetalipoproteinemia with prebetalipoproteinemia
    • mixed hyperlipidaemia
    • type IIb hyperlipoproteinemia
Caenorhabditis elegans
DOID:0080202
  • adenoid cystic carcinoma
Rattus norvegicus (Norway rat)
DOID:9277
  • primary cerebellar degeneration
Mus musculus (house mouse)
DOID:10487
  • Hirschsprung's disease
  • Aliases:
    • Hirschsprung disease
    • aganglionic megacolon
    • congenital megacolon
    • macrocolon
    • pelvirectal achalasia
    • total intestinal aganglionosis
Homo sapiens (human)
DOID:0080599
  • Coronavirus infectious disease
Mus musculus (house mouse)
DOID:11830
  • myopia
  • Aliases:
    • near vision
    • near-sightedness
    • short-sightedness
Xenopus laevis (African clawed frog)
DOID:0050432
  • Asperger syndrome
Homo sapiens (human)
DOID:0070201
  • Miyoshi muscular dystrophy 3
  • Aliases:
    • MMD3
    • Miyoshi myopathy 3
Homo sapiens (human)
DOID:2987
  • familial mediterranean fever
  • Aliases:
    • FMF
    • benign paroxysmal peritonitis
Homo sapiens (human)
DOID:10887
  • lepromatous leprosy
  • Aliases:
    • type L leprosy
Mus musculus (house mouse)
DOID:0111818
  • syndactyly type 4
  • Aliases:
    • Haas type syndactyly
    • SDTY4
    • polysyndactyly, Haas type
Mus musculus (house mouse)
DOID:0080262
  • autosomal recessive nonsyndromic deafness 107
Mus musculus (house mouse)
DOID:0050997
  • cerebellar ataxia, mental retardation and dysequlibrium syndrome
  • Aliases:
    • CAMRQ
    • Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
    • Uner Tan syndrome
    • VLDLR Cerebellar Hypoplasia
Homo sapiens (human)
DOID:0080322
  • polycystic kidney disease
Danio rerio (zebrafish)
DOID:8506
  • bullous pemphigoid
Rattus norvegicus (Norway rat)
DOID:0112333
  • pontocerebellar hypoplasia type 16
  • Aliases:
    • PCH16
Mus musculus (house mouse)
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Last updated: December 9, 2024