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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 9451 - 9475 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0112306
  • Mahvash Disease
  • Aliases:
    • GCGR-related hyperglucagonemia
    • nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor
Homo sapiens (human)
DOID:0111254
  • glutaric acidemia I
  • Aliases:
    • GA1
    • glutaric academia type 1
    • glutaric aciduria 1
    • glutaric aciduria type I
    • glutaryl-coA dehydrogenase deficiency
    • glutaryl-coenzyme A dehydrogenase deficiency
Homo sapiens (human)
DOID:0070371
  • leukoencephalopathy with vanishing white matter 4
Saccharomyces cerevisiae S288C
DOID:0060868
  • leukoencephalopathy with vanishing white matter
  • Aliases:
    • CACH
    • CACH/VWM
    • childhood ataxia with central nervous system hypomyelination
    • vanishing white matter leukodystrophy
Saccharomyces cerevisiae S288C
DOID:1586
  • rheumatic fever
  • Aliases:
    • ACUTE RHEUMATIC FEVER
    • RhF - Rheumatic fever
Homo sapiens (human)
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
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0110798
  • hereditary spastic paraplegia 46
  • Aliases:
    • SPG46
    • autosomal recessive spastic paraplegia 46
    • autosomal recessive spastic paraplegia type 46
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0110958
  • Gaucher's disease type II
  • Aliases:
    • GD II
    • GD2
    • Gaucher Disease, Acute Neuronopathic Type
    • Infantile Cerebral Gaucher Disease
Homo sapiens (human)
DOID:0050474
  • Netherton syndrome
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0110957
  • Gaucher's disease type I
  • Aliases:
    • Acid Beta-Glucosidase Deficiency
    • GD I
    • GD1
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Glucocerebrosidase Deficiency
Homo sapiens (human)
DOID:0110960
  • Gaucher's disease perinatal lethal
  • Aliases:
    • Fetal Gaucher Disease
    • Gaucher Disease, Collodion Type
Homo sapiens (human)
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Homo sapiens (human)
DOID:0070048
  • GAND syndrome
  • Aliases:
    • MRD18
    • autosomal dominant intellectual developmental disorder 18
    • autosomal dominant mental retardation 18
    • autosomal dominant non-syndromic intellectual disability 18
Homo sapiens (human)
DOID:0110441
  • dilated cardiomyopathy 2B
  • Aliases:
    • CMD2B
Homo sapiens (human)
DOID:0110107
  • atrial heart septal defect 2
  • Aliases:
    • ASD2
    • atrial septal defect 2
Homo sapiens (human)
DOID:1657
  • ventricular septal defect
  • Aliases:
    • Interventricular septal defect
    • Ventricular septal abnormality
Homo sapiens (human)
DOID:0060878
  • hypoparathyroidism-deafness-renal disease syndrome
  • Aliases:
    • Barakat syndrome
    • HDR syndrome
    • hypoparathyroidism, sensorineural deafness, and renal disease
Homo sapiens (human)
DOID:0060348
  • hypoparathyroidism-retardation-dysmorphism syndrome
  • Aliases:
    • HRD syndrome
    • Sanjad-Sakati syndrome
    • hypoparathyroidism with short stature, mental retardation and seizures
Homo sapiens (human)
DOID:11199
  • hypoparathyroidism
Homo sapiens (human)
DOID:0111947
  • immunodeficiency 21
  • Aliases:
    • DCML
    • GATA2 deficiency
    • IMD21
    • MonoMAC
    • combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
    • dendritic cell, monocyte, B and NK lymphoid deficiency
    • monocyte-B-natural killer-dendritic cell deficiency syndrome
    • monocytopenia and mycobacterial infection syndrome
    • monocytopenia with susceptibility to infections
Homo sapiens (human)
DOID:0110860
  • polycystic kidney disease 3
  • Aliases:
    • Apkd3
    • Pkd3
    • Polycystic Kidney Disease, Adult, Type III
Homo sapiens (human)
DOID:0050770
  • polycystic liver disease
  • Aliases:
    • congenital cystic liver disease
    • congenital hepatic cyst
    • fibrocystic liver disease
Homo sapiens (human)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024