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 4676 - 4700 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0060462
  • Desbuquois dysplasia
  • Aliases:
    • Desbuquois syndrome
    • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Drosophila melanogaster (fruit fly)
DOID:2738
  • pseudoxanthoma elasticum
  • Aliases:
    • Gronblad-Strandberg syndrome
Drosophila melanogaster (fruit fly)
DOID:0111676
  • high molecular weight kininogen deficiency
  • Aliases:
    • Fitzgerald trait
    • HMWK deficiency
    • congenital high-molecular-weight kininogen deficiency
Homo sapiens (human)
DOID:0112265
  • iminoglycinuria
Drosophila melanogaster (fruit fly)
DOID:0080467
  • developmental and epileptic encephalopathy 2
  • Aliases:
    • DEE2
    • EIEE2
    • X-linked infantile spasm syndrome 2
    • early infantile epileptic encephalopathy 2
Mus musculus (house mouse)
DOID:0112045
  • non-syndromic X-linked intellectual disability 93
  • Aliases:
    • MRX93
    • X-linked mental retardation 93
    • X-linked mental retardation with macrocephaly
Mus musculus (house mouse)
DOID:0081345
  • congenital myopathy 10B
Drosophila melanogaster (fruit fly)
DOID:0111333
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Aliases:
    • EMARDD
    • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
    • congenital myopathy 10A
Drosophila melanogaster (fruit fly)
DOID:0080560
  • congenital disorder of glycosylation Ih
  • Aliases:
    • congenital disorder of glycosylation 1h
Mus musculus (house mouse)
DOID:0110596
  • primary ciliary dyskinesia 21
  • Aliases:
    • CILD21
    • primary ciliary dyskinesia 21 without situs inversus
Mus musculus (house mouse)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Mus musculus (house mouse)
DOID:5389
  • oxyphilic adenoma
  • Aliases:
    • Follicular adenoma, oxyphilic cell
    • Oncocytoma
Homo sapiens (human)
DOID:3263
  • piebaldism
  • Aliases:
    • PIEBALD TRAIT
    • Partial albinism
Homo sapiens (human)
DOID:6171
  • uterine carcinosarcoma
  • Aliases:
    • mixed mullerian sarcoma of uterus
Homo sapiens (human)
DOID:2361
  • macrocytic anemia
  • Aliases:
    • ANEMIA MACROCYTIC
    • Macrocytic anaemia
Homo sapiens (human)
DOID:4226
  • endometrial stromal sarcoma
  • Aliases:
    • ESS
    • Undifferentiated endometrial sarcoma
    • endometrial stromal sarcoma, high grade
Homo sapiens (human)
DOID:962
  • neurofibroma
Homo sapiens (human)
DOID:8440
  • ileus
  • Aliases:
    • Ileus of intestine
Homo sapiens (human)
DOID:0040086
  • Polyomavirus-associated nephropathy
  • Aliases:
    • PVAN
    • polyomavirus associated nephropathy
Homo sapiens (human)
DOID:0080827
  • human cytomegalovirus infection
Homo sapiens (human)
DOID:0090044
  • dystonia 9
Drosophila melanogaster (fruit fly)
DOID:0090045
  • childhood onset GLUT1 deficiency syndrome 2
Drosophila melanogaster (fruit fly)
DOID:0111313
  • idiopathic generalized epilepsy 12
  • Aliases:
    • EIG12
Drosophila melanogaster (fruit fly)
DOID:0060326
  • myelomeningocele
Drosophila melanogaster (fruit fly)
DOID:255
  • hemangioma
Drosophila melanogaster (fruit fly)

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Last updated: December 9, 2024