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 1476 - 1500 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:653
  • purine-pyrimidine metabolic disorder
  • Aliases:
    • inborn errors of purine-pyrimidine metabolism
Drosophila melanogaster (fruit fly)
DOID:0050833
  • orotic aciduria
Drosophila melanogaster (fruit fly)
DOID:0110970
  • brachydactyly type C
  • Aliases:
    • BDC
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:2231
  • factor XII deficiency
  • Aliases:
    • Factor XII deficiency disease
    • Hageman Factor deficiency
    • deficiency, Hageman
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:5325
  • Roberts syndrome
  • Aliases:
    • LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
    • RBS
    • Roberts-Sc Phocomelia Syndrome
    • SC phocomelia syndrome
Homo sapiens (human)
DOID:0050536
  • obsolete SC phocomelia syndrome
  • Aliases:
    • Hypomelia Hypotrichosis Facial hemangioma syndrome
    • SC PSEUDOTHALIDOMIDE SYNDROME
Homo sapiens (human)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Drosophila melanogaster (fruit fly)
DOID:0111843
  • Paganini-Miozzo syndrome
  • Aliases:
    • MRXSPM
Drosophila melanogaster (fruit fly)
DOID:0080563
  • congenital disorder of glycosylation Ik
  • Aliases:
    • congenital disorder of glycosylation 1k
Drosophila melanogaster (fruit fly)
DOID:0070403
  • hypomyelinating leukodystrophy 26
  • Aliases:
    • HLD26
Drosophila melanogaster (fruit fly)
DOID:0060170
  • generalized epilepsy with febrile seizures plus
  • Aliases:
    • GEFS+
Homo sapiens (human)
DOID:0080433
  • developmental and epileptic encephalopathy 51
  • Aliases:
    • DEE51
    • early infantile epileptic encephalopathy 51
Homo sapiens (human)
DOID:0112222
  • developmental and epileptic encephalopathy 88
  • Aliases:
    • DEE88
    • early infantile epileptic encephalopathy 88
Homo sapiens (human)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Drosophila melanogaster (fruit fly)
DOID:3534
  • Lafora disease
  • Aliases:
    • Lafora Progressive Myoclonic Epilepsy
    • Lafora's disease
    • MYOCLONIC EPILEPSY OF LAFORA
Drosophila melanogaster (fruit fly)
DOID:1287
  • cardiovascular system disease
  • Aliases:
    • disease of subdivision of hemolymphoid system
Drosophila melanogaster (fruit fly)
DOID:0050117
  • disease by infectious agent
  • Aliases:
    • infectious disease
Homo sapiens (human)
DOID:14239
  • gastrointestinal tularemia
  • Aliases:
    • Enteric tularemia
    • intestinal tularaemia
Homo sapiens (human)
DOID:9861
  • miliary tuberculosis
  • Aliases:
    • Disseminated tuberculosis
    • Tuberculosis miliaris disseminata
    • acute miliary tuberculosis
    • generalized tuberculosis
Homo sapiens (human)
DOID:12375
  • bronchopneumonia
  • Aliases:
    • Chest infection - bronchopneumonia
    • bronchial pneumonia
    • lobular pneumonia
Homo sapiens (human)
DOID:14176
  • selective IgG deficiency disease
  • Aliases:
    • Immunoglobin G subclass deficiency
    • Selective IgG Immunodeficiency
    • Selective Immunoglobulin G Subclass deficiency
    • Selective deficiency of IgG
    • Selective immunoglobulin G deficiency
Homo sapiens (human)
DOID:10457
  • Legionnaires' disease
  • Aliases:
    • Infection by Legionella pneumophilia
    • Legionella
    • Legionella pneumonia
    • Legionnaire's disease
Homo sapiens (human)

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Last updated: August 19, 2024