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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 13251 - 13275 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:3905
  • lung carcinoma
  • Aliases:
    • cancer of lung
Danio rerio (zebrafish)
DOID:2527
  • nephrosis
Danio rerio (zebrafish)
DOID:9455
  • lipid storage disease
  • Aliases:
    • Lipoid storage diseas
    • inborn lipid storage disorder
    • lipoidosis
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:0110961
  • atypical Gaucher's disease due to saposin c deficiency
Homo sapiens (human)
DOID:0110980
  • Joubert syndrome 1
  • Aliases:
    • CORS1
    • CPD4
    • JBTS1
    • cerebellooculorenal syndrome 1
    • cerebelloparenchymal disorder IV
Homo sapiens (human)
DOID:0110057
  • amelogenesis imperfecta type 2A1
  • Aliases:
    • AI2A1
    • amelogenesis imperfecta pigmented hypomaturation type 1
    • amelogenesis imperfecta type IIA1
Mus musculus (house mouse)
DOID:0080562
  • congenital disorder of glycosylation Ij
  • Aliases:
    • Congenital disorder of glycosylation 1j
Danio rerio (zebrafish)
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Danio rerio (zebrafish)
DOID:0110337
  • osteogenesis imperfecta type 7
  • Aliases:
    • OI7
    • osteogenesis imperfecta type VII
Mus musculus (house mouse)
DOID:640
  • encephalomyelitis
  • Aliases:
    • Encephalitis &/or myelitis
Homo sapiens (human)
DOID:0111981
  • immunodeficiency 43
  • Aliases:
    • B2M deficiency
    • IMD43
    • beta-2-microglobulin deficiency
    • hypercatabolic hypoproteinemia
Homo sapiens (human)
DOID:2566
  • corneal dystrophy
Danio rerio (zebrafish)
DOID:11342
  • arcus senilis
  • Aliases:
    • Arcus of cornea
    • corneal arcus
Danio rerio (zebrafish)
DOID:0060287
  • cornea plana
  • Aliases:
    • flat cornea
Danio rerio (zebrafish)
DOID:0110167
  • Charcot-Marie-Tooth disease axonal type 2K
  • Aliases:
    • ARCMT2K
    • Charcot-Marie-Tooth neuropathy axonal type 2K
    • autosomal recessive Charcot-Marie-Tooth disease with hoarseness
    • autosomal recessive axonal CMT4C4
    • autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Homo sapiens (human)
DOID:0080330
  • cold-induced sweating syndrome 2
Mus musculus (house mouse)
DOID:8411
  • kidney angiomyolipoma
  • Aliases:
    • Angiomyolipoma of kidney
    • renal Angiomyolipoma
Mus musculus (house mouse)
DOID:0110669
  • congenital myasthenic syndrome 14
  • Aliases:
    • CMS14
    • CMSTA3
    • congenital myasthenic syndrome 14, with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 3
Mus musculus (house mouse)
DOID:0080561
  • congenital disorder of glycosylation Ii
  • Aliases:
    • congenital disorder of glycosylation 1i
Mus musculus (house mouse)
DOID:0080133
  • multiple mitochondrial dysfunctions syndrome 1
  • Aliases:
    • NFU1 deficiency
Mus musculus (house mouse)
DOID:0060081
  • triple-receptor negative breast cancer
Homo sapiens (human)
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Rattus norvegicus (Norway rat)
DOID:0111035
  • CADASIL 1
  • Aliases:
    • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
Rattus norvegicus (Norway rat)
DOID:0060774
  • congenital diarrhea
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024