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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 12051 - 12075 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0060394
  • chromosome 15q13.3 microdeletion syndrome
  • Aliases:
    • 15q13.3 microdeletion syndrome
Rattus norvegicus (Norway rat)
DOID:0110217
  • Leber congenital amaurosis 17
  • Aliases:
    • LCA17
Rattus norvegicus (Norway rat)
DOID:0081002
  • Cowden syndrome 6
Rattus norvegicus (Norway rat)
DOID:0080571
  • congenital disorder of glycosylation Iu
  • Aliases:
    • congenital disorder of glycosylation 1u
Rattus norvegicus (Norway rat)
DOID:0060669
  • cerebral cavernous malformation
  • Aliases:
    • cavernous angiomatous malformations
    • cerebral capillary malformations
    • familial cavernous angioma
Rattus norvegicus (Norway rat)
DOID:0111949
  • immunodeficiency 36
  • Aliases:
    • IMD36
    • activated phosphoinositide 3-kinase delta syndrome 2
Rattus norvegicus (Norway rat)
DOID:0080154
  • short chain acyl-CoA dehydrogenase deficiency
Rattus norvegicus (Norway rat)
DOID:2121
  • ectodermal dysplasia
  • Aliases:
    • Congenital ectodermal defect
    • Congenital ectodermal dysplasia
Rattus norvegicus (Norway rat)
DOID:13482
  • Proteus syndrome
  • Aliases:
    • Wiedemann's syndrome
Rattus norvegicus (Norway rat)
DOID:4250
  • conjunctivochalasis
Rattus norvegicus (Norway rat)
DOID:1700
  • X-linked ichthyosis
  • Aliases:
    • X-linked ichthyosis with steryl-sulphatase deficiency
    • X-linked placental steryl-sulphatase deficiency
    • X-linked recessive ichthyosis
Rattus norvegicus (Norway rat)
DOID:0111941
  • immunodeficiency 20
  • Aliases:
    • CD16 deficiency
    • IMD20
    • autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
    • autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Rattus norvegicus (Norway rat)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Rattus norvegicus (Norway rat)
DOID:14723
  • beta-ketothiolase deficiency
  • Aliases:
    • 2-methyl-3-hydroxybutyricacidemia
    • 3-ketothiolase deficiency
    • 3-oxothiolase deficiency
    • Mitochondrial acetoacetyl-CoA Thiolase deficiency
    • alpha-methylacetoaceticaciduria
    • peroxisomal thiolase deficiency
Rattus norvegicus (Norway rat)
DOID:9655
  • oral mucosa leukoplakia
Rattus norvegicus (Norway rat)
DOID:0110993
  • Joubert syndrome 24
  • Aliases:
    • JBTS24
Rattus norvegicus (Norway rat)
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Rattus norvegicus (Norway rat)
DOID:12895
  • keratoconjunctivitis sicca
  • Aliases:
    • KCS
Rattus norvegicus (Norway rat)
DOID:0050793
  • short QT syndrome
Rattus norvegicus (Norway rat)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Rattus norvegicus (Norway rat)
DOID:1923
  • disorder of sexual development
  • Aliases:
    • sex development disorder
    • sex differentiation disease
Rattus norvegicus (Norway rat)
DOID:0060449
  • gelatinous drop-like corneal dystrophy
  • Aliases:
    • GDCD
    • corneal amyloidosis
    • primary familial amyloidosis of the cornea
    • subepithelial amyloidosis of the cornea
Rattus norvegicus (Norway rat)
DOID:3323
  • Sandhoff disease
  • Aliases:
    • Sandhoff Jatzkewitz disease
Rattus norvegicus (Norway rat)
DOID:0080630
  • B-lymphoblastic leukemia/lymphoma
  • Aliases:
    • B lymphoblastic leukemia/lymphoma
    • B-ALL
    • precursor B lymphoblastic lymphoma/leukemia
Rattus norvegicus (Norway rat)
DOID:9182
  • pemphigus
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024