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 4776 - 4800 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0080569
  • congenital disorder of glycosylation Ir
  • Aliases:
    • congenital disorder of glycosylation 1r
Homo sapiens (human)
DOID:4394
  • reticulohistiocytic granuloma
  • Aliases:
    • Reticulohistiocytoma
    • solitary reticulohistiocytoma
Homo sapiens (human)
DOID:0090076
  • hypogonadotropic hypogonadism 18 with or without anosmia
Homo sapiens (human)
DOID:4138
  • bile duct disease
  • Aliases:
    • bile duct disorder
    • disorder of bile duct
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:1558
  • angioedema
  • Aliases:
    • Angioneurotic oedema
    • Quincke's edema
    • angioneurotic edema
    • giant urticaria
Homo sapiens (human)
DOID:0080664
  • diaphyseal medullary stenosis with malignant fibrous histiocytoma
  • Aliases:
    • Hardcastle syndrome
    • bone dysplasia-medullary fibrosarcoma syndrome
    • diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Homo sapiens (human)
DOID:5675
  • cribriform carcinoma
  • Aliases:
    • ductal carcinoma, cribriform type
Homo sapiens (human)
DOID:12449
  • aplastic anemia
Homo sapiens (human)
DOID:4267
  • akinetic mutism
  • Aliases:
    • Coma vigilans
Homo sapiens (human)
DOID:0050120
  • hemophagocytic lymphohistiocytosis
  • Aliases:
    • haemophagocytic syndrome
Homo sapiens (human)
DOID:0070460
  • hereditary spastic paraplegia 90B
  • Aliases:
    • SPG90B
    • autosomal recessive spastic paraplegia 90B
Homo sapiens (human)
DOID:0111756
  • Leber hereditary optic neuropathy with demyelinating disease of CNS
Homo sapiens (human)
DOID:2583
  • agammaglobulinemia
  • Aliases:
    • IGHM
    • hypogammaglobulinemia
    • mu heavy chain deficiency
Homo sapiens (human)
DOID:11252
  • microcytic anemia
Homo sapiens (human)
DOID:10348
  • blepharophimosis
Homo sapiens (human)
DOID:13938
  • amenorrhea
  • Aliases:
    • absence of menstruation
    • amenia
Homo sapiens (human)
DOID:6741
  • bilateral breast cancer
  • Aliases:
    • Bilateral breast carcinoma
Homo sapiens (human)
DOID:0060911
  • karyomegalic interstitial nephritis
  • Aliases:
    • KIN
    • KMIN
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Homo sapiens (human)
DOID:11372
  • megacolon
  • Aliases:
    • Dilatation of colon
Homo sapiens (human)
DOID:8503
  • impetigo herpetiformis
Homo sapiens (human)
DOID:11049
  • meconium aspiration syndrome
  • Aliases:
    • Neonatal aspiration of meconium
    • meconium aspiration
Homo sapiens (human)
DOID:0110242
  • cataract 13 with adult i phenotype
  • Aliases:
    • CTRCT13
Homo sapiens (human)
DOID:0080162
  • lupus nephritis
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024