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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 8976 - 9000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080171
  • esophageal atresia/tracheoesophageal fistula
  • Aliases:
    • esophageal atresia and/or tracheoesophageal fistula
    • tracheoesophageal fistula with or without esohageal atresia
Homo sapiens (human)
DOID:0110873
  • holoprosencephaly 9
  • Aliases:
    • HPE9
    • holoprosencephaly with microphthalmia and first branchial arch anomalies
    • pituitary anomalies with holoprosencephaly-like features
Homo sapiens (human)
DOID:0080328
  • Culler-Jones syndrome
Homo sapiens (human)
DOID:1148
  • polydactyly
  • Aliases:
    • postaxial polydactyly
Homo sapiens (human)
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Homo sapiens (human)
DOID:11193
  • syndactyly
  • Aliases:
    • symphalangism
    • symphalangy
    • webbing of digits
Homo sapiens (human)
DOID:9248
  • Pallister-Hall syndrome
Homo sapiens (human)
DOID:0111888
  • Diamond-Blackfan anemia 10
  • Aliases:
    • DBA10
    • RPS26-related Diamond-Blackfan anemia
Mus musculus (house mouse)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Mus musculus (house mouse)
DOID:0070329
  • mitochondrial DNA depletion syndrome
  • Aliases:
    • mtDNA depletion syndrome
Mus musculus (house mouse)
DOID:0111220
  • centronuclear myopathy 2
  • Aliases:
    • CNM2
Homo sapiens (human)
DOID:0111364
  • Alzheimer's disease 9
  • Aliases:
    • AD9
    • Alzheimer's disease 9, late onset
Mus musculus (house mouse)
DOID:0090019
  • sitosterolemia
  • Aliases:
    • phytosterolemia
Mus musculus (house mouse)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Homo sapiens (human)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Homo sapiens (human)
DOID:0070222
  • progressive familial intrahepatic cholestasis 2
  • Aliases:
    • BSEP deficiency
    • PFIC2
Mus musculus (house mouse)
DOID:0070232
  • benign recurrent intrahepatic cholestasis 2
  • Aliases:
    • BRIC type 2
    • BRIC2
Mus musculus (house mouse)
DOID:0111394
  • mucopolysaccharidosis type IIIB
  • Aliases:
    • MPS3B
    • MPSIIIB
    • Mucopoly-saccharidosis type 3B
    • Mucopolysaccharidosis type 3B
    • N-acetyl-alpha-glucosaminidase deficiency
    • NAGLU deficiency
    • Sanfilippo syndrome type B
    • mucopolysaccharidosis type IIIB (Sanfilippo B)
Mus musculus (house mouse)
DOID:0110178
  • Charcot-Marie-Tooth disease axonal type 2V
  • Aliases:
    • CMT2V
    • Charcot-Marie-Tooth neuropathy type 2V
    • autosomal dominant Charcot-Marie-Tooth disease type 2V
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
Mus musculus (house mouse)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
Homo sapiens (human)
DOID:0060697
  • hyperekplexia 2
  • Aliases:
    • HKPX2
Homo sapiens (human)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Homo sapiens (human)
DOID:0060272
  • pontocerebellar hypoplasia type 3
Homo sapiens (human)
DOID:0070217
  • familial hyperinsulinemic hypoglycemia 6
  • Aliases:
    • HHF6
    • HI/HA syndrome
    • hyperinsulinism-hyperammonemia syndrome
Homo sapiens (human)
DOID:4795
  • GM2 gangliosidosis, AB variant
  • Aliases:
    • Tay-Sachs disease AB variant
    • Tay-Sachs disease, variant AB
Homo sapiens (human)
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Last updated: December 9, 2024