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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 7426 - 7450 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Danio rerio (zebrafish)
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Danio rerio (zebrafish)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Danio rerio (zebrafish)
DOID:0060363
  • glycerol kinase deficiency
Rattus norvegicus (Norway rat)
DOID:5453
  • pulmonary venoocclusive disease
  • Aliases:
    • pulmonary veno-occlusive disease
Rattus norvegicus (Norway rat)
DOID:0050807
  • Kahrizi syndrome
  • Aliases:
    • KHRZ
    • intellectual disability, Kahrizi type
    • intellectual disability-cataract-coloboma-kyphosis syndrome
Homo sapiens (human)
DOID:7378
  • pituitary hypoplasia
Homo sapiens (human)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Danio rerio (zebrafish)
DOID:0060263
  • porencephaly
Homo sapiens (human)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Homo sapiens (human)
DOID:14735
  • hereditary angioedema
  • Aliases:
    • HANE
    • Hereditary angioneurotic edema
Danio rerio (zebrafish)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Danio rerio (zebrafish)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Homo sapiens (human)
DOID:0050574
  • L-2-hydroxyglutaric aciduria
  • Aliases:
    • L-2-HYDROXYGLUTARIC ACIDEMIA
Homo sapiens (human)
DOID:5050
  • Ehrlich tumor carcinoma
  • Aliases:
    • Ehrlich tumour carcinoma
    • Ehrlich's tumor
    • Ehrlich's tumour
Homo sapiens (human)
DOID:0080473
  • developmental delay and seizures with or without movement abnormalities
Homo sapiens (human)
DOID:0110352
  • retinitis pigmentosa 59
  • Aliases:
    • RP59
Homo sapiens (human)
DOID:0112160
  • autosomal dominant nonsyndromic deafness 79
  • Aliases:
    • DFNA79
Homo sapiens (human)
DOID:0060869
  • late-onset retinal degeneration
  • Aliases:
    • LORD
    • autosomal dominant late-onset retinal degeneration
Homo sapiens (human)
DOID:0070224
  • progressive familial intrahepatic cholestasis 4
  • Aliases:
    • PFIC4
    • TJP2 deficit
Homo sapiens (human)
DOID:0111071
  • congenital bile acid synthesis defect 1
  • Aliases:
    • CBAS1
Homo sapiens (human)
DOID:14250
  • Down syndrome
  • Aliases:
    • Complete trisomy 21 syndrome
    • Down's syndrome
    • Down's syndrome - trisomy 21
    • Downs syndrome
    • G Trisomy
    • trisomy 21 syndrome
Mus musculus (house mouse)
DOID:552
  • pneumonia
  • Aliases:
    • acute pneumonia
Mus musculus (house mouse)
DOID:1496
  • echinococcosis
  • Aliases:
    • Echinococcosis of liver
    • echinococcal disease
    • hepatic echinococcosis
    • hydatid disease
    • hydatidosis
    • liver echinococcus
    • pulmonary echinococcosis
Mus musculus (house mouse)
DOID:0111146
  • acquired von Willebrand syndrome
  • Aliases:
    • AVWS
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

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