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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 8901 - 8925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110212
  • Charcot-Marie-Tooth disease X-linked recessive 4
  • Aliases:
    • CMT4X
    • CMTX4
    • Charcot-Marie-Tooth disease with deafness and mental retardation
    • Cowchock syndrome
    • NADMR
    • NAMSD
    • X-linked Charcot-Marie-Tooth disease type 4
    • axonal motor sensory neuropathy with deafness and mental retardation
Mus musculus (house mouse)
DOID:0111502
  • combined oxidative phosphorylation deficiency 6
  • Aliases:
    • COXPD6
    • Mitochondrial encephalomyopathy due to COXPD6
    • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
    • severe X-linked mitochondrial encephalomyopathy
Mus musculus (house mouse)
DOID:0060649
  • congenital hereditary endothelial dystrophy of cornea
  • Aliases:
    • CHED
Mus musculus (house mouse)
DOID:0111620
  • corneal dystrophy-perceptive deafness syndrome
  • Aliases:
    • CDPD
    • CDPD1
    • Harboyan syndrome
    • corneal dystrophy and perceptive deafness
    • corneal dystrophy with progressive deafness
    • corneal endothelial dystrophy and perceptive deafness
Mus musculus (house mouse)
DOID:0050734
  • congenital intrinsic factor deficiency
  • Aliases:
    • hereditary intrinsic factor deficiency
Homo sapiens (human)
DOID:13381
  • pernicious anemia
  • Aliases:
    • ANEMIA PERNICIOUS
    • Addison's anaemia
    • Biermer's anaemia
    • Biermer's anemia
    • pernicious anaemia
Homo sapiens (human)
DOID:0050816
  • urofacial syndrome
  • Aliases:
    • Ochoa syndrome
    • hydronephrosis with peculiar facial expression
Mus musculus (house mouse)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Mus musculus (house mouse)
DOID:0080005
  • bone remodeling disease
Mus musculus (house mouse)
DOID:0111352
  • D-2-hydroxyglutaric aciduria 2
  • Aliases:
    • D2HGA2
Mus musculus (house mouse)
DOID:0080430
  • developmental and epileptic encephalopathy 65
  • Aliases:
    • DEE65
    • early infantile epileptic encephalopathy 65
Homo sapiens (human)
DOID:4231
  • histiocytoma
Mus musculus (house mouse)
DOID:0081156
  • common variable immunodeficiency 14
Mus musculus (house mouse)
DOID:14159
  • obstructive hydrocephalus
Mus musculus (house mouse)
DOID:12801
  • mucopolysaccharidosis III
  • Aliases:
    • Mucopolysaccharidosis, MPS-III
    • N-sulphoglucosamine sulphohydrolase deficiency
    • Sanfilippo's syndrome
    • heparan sulfate sulfatase deficiency
Mus musculus (house mouse)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Mus musculus (house mouse)
DOID:0111114
  • nephronophthisis 3
  • Aliases:
    • NPH3
    • NPHP3
Homo sapiens (human)
DOID:0070121
  • Meckel syndrome 7
  • Aliases:
    • MKS7
    • Meckel-Gruber syndrome, type 7
Homo sapiens (human)
DOID:0060259
  • renal-hepatic-pancreatic dysplasia
  • Aliases:
    • Ivemark's syndrome
Homo sapiens (human)
DOID:0110859
  • polycystic kidney disease 2
  • Aliases:
    • Apkd2
    • Pkd2
    • Polycystic Kidney Disease, Adult, Type II
Homo sapiens (human)
DOID:0080356
  • IgG4-related disease
Homo sapiens (human)
DOID:0111983
  • immunodeficiency 52
  • Aliases:
    • IMD52
    • severe combined immunodeficiency due to LAT deficiency
Homo sapiens (human)
DOID:0081003
  • Cowden syndrome 7
Mus musculus (house mouse)
DOID:0110895
  • inflammatory bowel disease 14
  • Aliases:
    • IBD14
Mus musculus (house mouse)
DOID:0060309
  • syndromic X-linked intellectual disability
  • Aliases:
    • syndromic X-linked mental retardation
Mus musculus (house mouse)
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Last updated: December 9, 2024