GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3901 - 3925 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0060170
  • generalized epilepsy with febrile seizures plus
  • Aliases:
    • GEFS+
Homo sapiens (human)
DOID:0050536
  • obsolete SC phocomelia syndrome
  • Aliases:
    • Hypomelia Hypotrichosis Facial hemangioma syndrome
    • SC PSEUDOTHALIDOMIDE SYNDROME
Homo sapiens (human)
DOID:5325
  • Roberts syndrome
  • Aliases:
    • LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
    • RBS
    • Roberts-Sc Phocomelia Syndrome
    • SC phocomelia syndrome
Homo sapiens (human)
DOID:166
  • melanotic neuroectodermal tumor
  • Aliases:
    • Infantile Melanotic neuroectodermal neoplasm
    • Melanotic neuroectodermal tumor of infancy
    • Melanotic neuroectodermal tumour of infancy
    • Pigmented neuroectodermal tumour of infancy
    • melanotic neuroectodermal tumour
Homo sapiens (human)
DOID:2231
  • factor XII deficiency
  • Aliases:
    • Factor XII deficiency disease
    • Hageman Factor deficiency
    • deficiency, Hageman
Homo sapiens (human)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Homo sapiens (human)
DOID:0070194
  • autosomal recessive chronic granulomatous disease 3
  • Aliases:
    • CDG3
    • autosomal recessive chronic granulomatous disease cytochrome b-positive type III
    • autosomal recessive cytochrome b-positive CGD type III
    • chronic granulomatous disease due to NCF4 deficiency
Homo sapiens (human)
DOID:0110970
  • brachydactyly type C
  • Aliases:
    • BDC
Homo sapiens (human)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Homo sapiens (human)
DOID:0080222
  • pseudohypoparathyroidism type IB
Homo sapiens (human)
DOID:0111527
  • spinal muscular atrophy with progressive myoclonic epilepsy
  • Aliases:
    • Jankovic-Rivera syndrome
    • SMA-PME
    • SMAPME
    • hereditary myoclonus-progressive distal muscular atrophy syndrome
Homo sapiens (human)
DOID:0050989
  • episodic ataxia type 1
Homo sapiens (human)
DOID:0050526
  • Gamstorp-Wohlfart syndrome
  • Aliases:
    • autosomal recessive neuromyotonia and axonal neuropathy
    • myokymia, myotonia and muscle wasting
Homo sapiens (human)
DOID:4847
  • cauda equina neoplasm
  • Aliases:
    • tumor of the Cauda Equina
Homo sapiens (human)
DOID:4491
  • persian gulf syndrome
  • Aliases:
    • Gulf war syndrome
Homo sapiens (human)
DOID:1352
  • paranasal sinus disease
  • Aliases:
    • disorder of nasal sinus
Homo sapiens (human)
DOID:0110667
  • congenital myasthenic syndrome 5
  • Aliases:
    • CMS Ic
    • CMS5
    • EAD
    • Engel congenital myasthenic syndrome
    • congenital myasthenic syndrome Engel type
    • congenital myasthenic syndrome type Ic
    • end plate acetylcholinesterase deficiency
Homo sapiens (human)
DOID:2163
  • nasal cavity disease
Homo sapiens (human)
DOID:0060814
  • Wilson-Turner syndrome
  • Aliases:
    • MRXS6
    • WTS
    • X-linked intellectual disability-gynecomastia-obesity syndrome
    • mental retardation, X-linked, syndromic 6
    • mental retardation, X-linked, with gynecomastia and obesity
Homo sapiens (human)
DOID:6088
  • acute stress disorder
  • Aliases:
    • traumatic stress disorder
Homo sapiens (human)
DOID:974
  • upper respiratory tract disease
Homo sapiens (human)
DOID:3876
  • colonic pseudo-obstruction
  • Aliases:
    • primary chronic pseudo-obstruction of colon
Homo sapiens (human)
DOID:0050161
  • lower respiratory tract disease
Homo sapiens (human)
DOID:0080554
  • congenital disorder of glycosylation Ib
  • Aliases:
    • congenital disorder of glycosylation 1b
Homo sapiens (human)
DOID:0050956
  • spinocerebellar ataxia type 6
Homo sapiens (human)

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Last updated: August 19, 2024