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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 551 - 575 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060642
  • recessive dystrophic epidermolysis bullosa
  • Aliases:
    • RDEB, Hallopeau-Siemens type
    • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
    • autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Homo sapiens (human)
DOID:0060643
  • primary sclerosing cholangitis
Homo sapiens (human)
DOID:0060645
  • chronic recurrent multifocal osteomyelitis
  • Aliases:
    • CRMO
    • chronic multifocal osteomyelitis
Homo sapiens (human)
DOID:0060646
  • congenital chylothorax
Homo sapiens (human)
DOID:0060647
  • fetal encasement syndrome
  • Aliases:
    • cocoon syndrome
Homo sapiens (human)
DOID:0060648
  • anterior segment dysgenesis
  • Aliases:
    • anterior segment developmental anomaly
    • corneal opacification and other ocular anomalies
    • sclerocornea with other ocular anomalies
Homo sapiens (human)
DOID:0060649
  • congenital hereditary endothelial dystrophy of cornea
  • Aliases:
    • CHED
Homo sapiens (human)
DOID:0060650
  • dicarboxylic aminoaciduria
  • Aliases:
    • glutamate-aspartate transport defect
Homo sapiens (human)
DOID:0060651
  • MYH-9 related disease
Homo sapiens (human)
DOID:0060652
  • familial erythrocytosis 1
  • Aliases:
    • ECYT1
    • autosomal dominant benign erythrocytosis
    • primary familial and congenital polycythemia
Homo sapiens (human)
DOID:0060653
  • lethal congenital contracture syndrome 3
  • Aliases:
    • Israeli Bedouin type B multiple contracture syndrome
Homo sapiens (human)
DOID:0060654
  • lethal congenital contracture syndrome 4
Homo sapiens (human)
DOID:0060656
  • autosomal recessive congenital ichthyosis 1
  • Aliases:
    • ARCI1
Homo sapiens (human)
DOID:0060668
  • anencephaly
Homo sapiens (human)
DOID:0060669
  • cerebral cavernous malformation
  • Aliases:
    • cavernous angiomatous malformations
    • cerebral capillary malformations
    • familial cavernous angioma
Homo sapiens (human)
DOID:0060670
  • cerebral cavernous malformation 2
Homo sapiens (human)
DOID:0060672
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Homo sapiens (human)
DOID:0060673
  • Peters anomaly
Homo sapiens (human)
DOID:0060674
  • catecholaminergic polymorphic ventricular tachycardia
Homo sapiens (human)
DOID:0060675
  • catecholaminergic polymorphic ventricular tachycardia 1
  • Aliases:
    • CVPT1
    • arrhythmogenic right ventricular dysplasia 2
Homo sapiens (human)
DOID:0060676
  • catecholaminergic polymorphic ventricular tachycardia 2
  • Aliases:
    • CVPT2
Homo sapiens (human)
DOID:0060679
  • catecholaminergic polymorphic ventricular tachycardia 5
  • Aliases:
    • CVPT5
Homo sapiens (human)
DOID:0060680
  • pigment dispersion syndrome
  • Aliases:
    • glaucoma-related pigment dispersion syndrome
    • pigment-dispersion type glaucoma
Homo sapiens (human)
DOID:0060681
  • autosomal dominant nocturnal frontal lobe epilepsy
  • Aliases:
    • ENFL
Homo sapiens (human)
DOID:0060682
  • autosomal dominant nocturnal frontal lobe epilepsy 1
  • Aliases:
    • ENFL1
    • nocturnal frontal lobe epilepsy 1
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: December 9, 2024