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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 12101 - 12125 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0070217
  • familial hyperinsulinemic hypoglycemia 6
  • Aliases:
    • HHF6
    • HI/HA syndrome
    • hyperinsulinism-hyperammonemia syndrome
Mus musculus (house mouse)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Mus musculus (house mouse)
DOID:0060697
  • hyperekplexia 2
  • Aliases:
    • HKPX2
Mus musculus (house mouse)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Mus musculus (house mouse)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Mus musculus (house mouse)
DOID:14695
  • galactokinase deficiency
  • Aliases:
    • Galactosemia II
Mus musculus (house mouse)
DOID:11193
  • syndactyly
  • Aliases:
    • symphalangism
    • symphalangy
    • webbing of digits
Mus musculus (house mouse)
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Mus musculus (house mouse)
DOID:9248
  • Pallister-Hall syndrome
Mus musculus (house mouse)
DOID:1148
  • polydactyly
  • Aliases:
    • postaxial polydactyly
Mus musculus (house mouse)
DOID:0110873
  • holoprosencephaly 9
  • Aliases:
    • HPE9
    • holoprosencephaly with microphthalmia and first branchial arch anomalies
    • pituitary anomalies with holoprosencephaly-like features
Mus musculus (house mouse)
DOID:0080328
  • Culler-Jones syndrome
Mus musculus (house mouse)
DOID:0080171
  • esophageal atresia/tracheoesophageal fistula
  • Aliases:
    • esophageal atresia and/or tracheoesophageal fistula
    • tracheoesophageal fistula with or without esohageal atresia
Mus musculus (house mouse)
DOID:0050338
  • primary bacterial infectious disease
Mus musculus (house mouse)
DOID:0111681
  • glutamate-cysteine ligase deficiency
  • Aliases:
    • gamma-glutamylcysteine synthetase deficiency
    • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Mus musculus (house mouse)
DOID:0110939
  • autosomal recessive osteopetrosis 5
  • Aliases:
    • OPTB5
    • infantile malignant osteopetrosis 3
Mus musculus (house mouse)
DOID:0060363
  • glycerol kinase deficiency
Mus musculus (house mouse)
DOID:0110476
  • autosomal recessive nonsyndromic deafness 1B
  • Aliases:
    • DFNB1B
    • autosomal recessive deafness 1B
Mus musculus (house mouse)
DOID:14693
  • Clouston syndrome
  • Aliases:
    • Clouston's hidrotic ectodermal dysplasia
    • Clouston's syndrome
    • Hidrotic ectodermal dysplasia syndrome
    • ectodermal dysplasia 2, Clouston type
    • hidrotic ectodermal dysplasia
Mus musculus (house mouse)
DOID:0110475
  • autosomal recessive nonsyndromic deafness 1A
  • Aliases:
    • DFNB1A
    • autosomal recessive deafness 1A
Mus musculus (house mouse)
DOID:0110565
  • autosomal dominant nonsyndromic deafness 3B
  • Aliases:
    • DFNA3B
    • autosomal dominant deafness 3B
Mus musculus (house mouse)
DOID:2121
  • ectodermal dysplasia
  • Aliases:
    • Congenital ectodermal defect
    • Congenital ectodermal dysplasia
Mus musculus (house mouse)
DOID:0111984
  • immunodeficiency 58
  • Aliases:
    • IMD58
    • severe combined immunodeficiency due to CARMIL2 deficiency
Homo sapiens (human)
DOID:0110480
  • autosomal recessive nonsyndromic deafness 22
  • Aliases:
    • DFNB22
    • autosomal recessive deafness 22
Homo sapiens (human)
DOID:0050467
  • erythrokeratodermia variabilis
  • Aliases:
    • Erythrokeratodermia Figurata Variabilis
    • Greither Disease
Mus musculus (house mouse)
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Last updated: December 9, 2024