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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 8776 - 8800 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080076
  • Neu-Laxova syndrome 1
Homo sapiens (human)
DOID:0080575
  • Larsen-like syndrome B3GAT3 type
  • Aliases:
    • Larsen-like syndrome, B3GAT3 type
    • multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Homo sapiens (human)
DOID:0070444
  • neurodevelopmental disorder with language delay and seizures
Homo sapiens (human)
DOID:0080131
  • mitochondrial DNA depletion syndrome 13
  • Aliases:
    • FBXL4 deficiency
    • FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
    • mitochondrial DNA depletion syndrome 13, encephalomyopathic type
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: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:0060878
  • hypoparathyroidism-deafness-renal disease syndrome
  • Aliases:
    • Barakat syndrome
    • HDR syndrome
    • hypoparathyroidism, sensorineural deafness, and renal disease
Homo sapiens (human)
DOID:1657
  • ventricular septal defect
  • Aliases:
    • Interventricular septal defect
    • Ventricular septal abnormality
Homo sapiens (human)
DOID:0050651
  • atrioventricular septal defect
  • Aliases:
    • AVCD
    • AVSD
    • ECD
    • atrioventricular canal defect
    • endocardial cushion defect
Homo sapiens (human)
DOID:1882
  • atrial heart septal defect
  • Aliases:
    • atrial septal defect
    • atrioseptal defect
    • auricular septal defect
    • congenital atrial septal defect
    • interatrial septal defect
    • interauricular septal defect
Homo sapiens (human)
DOID:0110107
  • atrial heart septal defect 2
  • Aliases:
    • ASD2
    • atrial septal defect 2
Homo sapiens (human)
DOID:0050763
  • ARC syndrome
  • Aliases:
    • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
    • Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
    • Arthrogryposis-renal dysfunction-cholestasis
Homo sapiens (human)
DOID:0111353
  • arthrogryposis, renal dysfunction, and cholestasis 1
  • Aliases:
    • ARCS1
Homo sapiens (human)
DOID:0050946
  • Charlevoix-Saguenay spastic ataxia
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: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:0080240
  • non-syndromic X-linked intellectual disability 106
  • Aliases:
    • MRX106
    • X-linked mental retardation 106
Rattus norvegicus (Norway rat)
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:13270
  • erythropoietic protoporphyria
  • Aliases:
    • EPP
    • Protoporphyria
Mus musculus (house mouse)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024