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 15526 - 15550 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0080422
  • Dravet syndrome
  • Aliases:
    • DEE6
    • DEE6A
    • developmental and epileptic encephalopathy 6
    • developmental and epileptic encephalopathy 6A
    • early infantile epileptic encephalopathy 6
    • severe myoclonic epilepsy of infancy
Danio rerio (zebrafish)
DOID:0081355
  • congenital myopathy 22B
Danio rerio (zebrafish)
DOID:0110682
  • congenital myasthenic syndrome 16
  • Aliases:
    • CMS16
    • congenital myasthenic syndrome acetazolamide-responsive
Danio rerio (zebrafish)
DOID:0081354
  • congenital myopathy 22A
Danio rerio (zebrafish)
DOID:0111294
  • generalized epilepsy with febrile seizures plus 2
  • Aliases:
    • GEFS+2
    • GEFSP2
    • generalised epilepsy with febrile seizures plus 2
    • generalised epilepsy with febrile seizures plus type 2
    • generalized epilepsy with febrile seizures plus type 2
Danio rerio (zebrafish)
DOID:0060170
  • generalized epilepsy with febrile seizures plus
  • Aliases:
    • GEFS+
Danio rerio (zebrafish)
DOID:0111538
  • paramyotonia congenita of Von Eulenburg
  • Aliases:
    • Eulenburg disease
    • PMC
    • Von Eulenburg paramyotonia congenita
    • myotonia congenita intermittens
    • paralysis periodica paramyotonica
    • paramyotonia congenita
Danio rerio (zebrafish)
DOID:14451
  • hyperkalemic periodic paralysis
  • Aliases:
    • familial hyperkalemic periodic paralysis
Danio rerio (zebrafish)
DOID:263
  • kidney cancer
  • Aliases:
    • malignant neoplasm of kidney except pelvis
    • malignant tumour of kidney
    • renal cancer
Drosophila melanogaster (fruit fly)
DOID:0060072
  • benign neoplasm
Drosophila melanogaster (fruit fly)
DOID:8567
  • Hodgkin's lymphoma
  • Aliases:
    • HL
    • Hodgkin disease
    • Hodgkin lymphoma
    • Hodgkin's sarcoma
    • Hodgkins lymphoma
    • stage I Subdiaphragmatic Hodgkin Lymphoma
    • stage II Subdiaphragmatic Hodgkin Lymphoma
Caenorhabditis elegans
DOID:104
  • bacterial infectious disease
Caenorhabditis elegans
DOID:0110633
  • rigid spine muscular dystrophy 1
  • Aliases:
    • Eichsfeld type congenital muscular dystrophy
    • MDRS1
    • RSMD1
    • RSS
    • SEPN1-related myopathy
    • classic MmD
    • classic multiminicore disease
    • classic multiminicore myopathy
    • congenital merosin-positive muscular dystrophy with early spine rigidity
    • desmin-related myopathy with Mallory bodies
    • desmin-related myopathy with Mallory body-like inclusions
    • early-onset desmin-related myopathy
    • rigid spine syndrome
    • severe classic form minicore myopathy
    • severe classic form multicore myopathy
    • severe classic form multiminicore disease
Danio rerio (zebrafish)
DOID:0110633
  • rigid spine muscular dystrophy 1
  • Aliases:
    • Eichsfeld type congenital muscular dystrophy
    • MDRS1
    • RSMD1
    • RSS
    • SEPN1-related myopathy
    • classic MmD
    • classic multiminicore disease
    • classic multiminicore myopathy
    • congenital merosin-positive muscular dystrophy with early spine rigidity
    • desmin-related myopathy with Mallory bodies
    • desmin-related myopathy with Mallory body-like inclusions
    • early-onset desmin-related myopathy
    • rigid spine syndrome
    • severe classic form minicore myopathy
    • severe classic form multicore myopathy
    • severe classic form multiminicore disease
Xenopus tropicalis (tropical clawed frog)
DOID:0090080
  • hypogonadotropic hypogonadism 16 with or without anosmia
Danio rerio (zebrafish)
DOID:13372
  • alpha 1-antitrypsin deficiency
  • Aliases:
    • AAT deficiency
Danio rerio (zebrafish)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Drosophila melanogaster (fruit fly)
DOID:303
  • substance-related disorder
Drosophila melanogaster (fruit fly)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Drosophila melanogaster (fruit fly)
DOID:4644
  • epidermolysis bullosa simplex
Drosophila melanogaster (fruit fly)
DOID:0070151
  • hereditary sensory and autonomic neuropathy type 6
  • Aliases:
    • HSAN6
    • hereditary sensory and autonomic neuropathy type VI
Drosophila melanogaster (fruit fly)
DOID:0112228
  • lissencephaly 9 with complex brainstem malformation
  • Aliases:
    • LIS9
    • posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Drosophila melanogaster (fruit fly)
DOID:14735
  • hereditary angioedema
  • Aliases:
    • HANE
    • Hereditary angioneurotic edema
Danio rerio (zebrafish)
DOID:9277
  • primary cerebellar degeneration
Xenopus laevis (African clawed frog)
DOID:399
  • tuberculosis
Caenorhabditis elegans

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Last updated: December 9, 2024