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 9126 - 9150 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:1586
  • rheumatic fever
  • Aliases:
    • ACUTE RHEUMATIC FEVER
    • RhF - Rheumatic fever
Mus musculus (house mouse)
DOID:0110202
  • Charcot-Marie-Tooth disease dominant intermediate A
  • Aliases:
    • CMTDIA
    • Charcot-Marie-Tooth neuropathy dominant intermediate A
    • DI-CMTA
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Mus musculus (house mouse)
DOID:2750
  • glycogen storage disease IV
  • Aliases:
    • Amylopectinosis
    • Branching-transferase deficiency glycogenosis
    • Glycogen storage disease 4
    • Glycogen storage disease, type IV
    • brancher deficiency glycogenosis
    • deficiency of 1,4-alpha-glucan branching enzyme
Mus musculus (house mouse)
DOID:0110798
  • hereditary spastic paraplegia 46
  • Aliases:
    • SPG46
    • autosomal recessive spastic paraplegia 46
    • autosomal recessive spastic paraplegia type 46
Mus musculus (house mouse)
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Mus musculus (house mouse)
DOID:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Mus musculus (house mouse)
DOID:0112250
  • Gaucher's disease type IIIC
  • Aliases:
    • GD3C
    • Gaucher disease type 3C
    • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
    • Gaucher-like disease
    • cardiovascular Gaucher disease
Mus musculus (house mouse)
DOID:0110959
  • Gaucher's disease type III
  • Aliases:
    • GD III
    • Gaucher Disease, Chronic Neuronopathic Type
    • Gaucher Disease, Juvenile And Adult, Cerebral
    • Gaucher Disease, Subacute Neuronopathic Type
Mus musculus (house mouse)
DOID:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Mus musculus (house mouse)
DOID:0050474
  • Netherton syndrome
Mus musculus (house mouse)
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Mus musculus (house mouse)
DOID:0070048
  • GAND syndrome
  • Aliases:
    • MRD18
    • autosomal dominant intellectual developmental disorder 18
    • autosomal dominant mental retardation 18
    • autosomal dominant non-syndromic intellectual disability 18
Rattus norvegicus (Norway rat)
DOID:0070048
  • GAND syndrome
  • Aliases:
    • MRD18
    • autosomal dominant intellectual developmental disorder 18
    • autosomal dominant mental retardation 18
    • autosomal dominant non-syndromic intellectual disability 18
Mus musculus (house mouse)
DOID:0110107
  • atrial heart septal defect 2
  • Aliases:
    • ASD2
    • atrial septal defect 2
Mus musculus (house mouse)
DOID:3319
  • lymphangioleiomyomatosis
  • Aliases:
    • lung lymphangioleiomyomatosis
    • lymphangiomyomatosis
    • pulmonary lymphangioleiomyomatosis
Drosophila melanogaster (fruit fly)
DOID:0060108
  • brain glioma
  • Aliases:
    • lower grade glioma
Drosophila melanogaster (fruit fly)
DOID:0110860
  • polycystic kidney disease 3
  • Aliases:
    • Apkd3
    • Pkd3
    • Polycystic Kidney Disease, Adult, Type III
Mus musculus (house mouse)
DOID:0050770
  • polycystic liver disease
  • Aliases:
    • congenital cystic liver disease
    • congenital hepatic cyst
    • fibrocystic liver disease
Mus musculus (house mouse)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Drosophila melanogaster (fruit fly)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Rattus norvegicus (Norway rat)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Mus musculus (house mouse)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Rattus norvegicus (Norway rat)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Mus musculus (house mouse)
DOID:0050571
  • congenital disorder of glycosylation type II
Rattus norvegicus (Norway rat)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Mus musculus (house mouse)

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Last updated: December 9, 2024