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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 4076 - 4100 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0060703
  • Muenke Syndrome
  • Aliases:
    • FGFR3-related craniosynostosis
Homo sapiens (human)
DOID:0060700
  • familial hypocalciuric hypercalcemia 1
  • Aliases:
    • FHH type 1
    • HHC1
    • familial benign hypercalcemia 1
    • familial hypocalciuric hypercalcemia type I
    • hypocalciuric hypercalcemia type I
Homo sapiens (human)
DOID:0060698
  • hyperekplexia 3
  • Aliases:
    • HKPX3
Homo sapiens (human)
DOID:0060697
  • hyperekplexia 2
  • Aliases:
    • HKPX2
Homo sapiens (human)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Homo sapiens (human)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Homo sapiens (human)
DOID:0060693
  • Brunner Syndrome
  • Aliases:
    • monoamine oxidase A deficiency
Homo sapiens (human)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Homo sapiens (human)
DOID:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Homo sapiens (human)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Homo sapiens (human)
DOID:0060685
  • autosomal dominant nocturnal frontal lobe epilepsy 4
  • Aliases:
    • ENFL4
    • nocturnal frontal lobe epilepsy 4
Homo sapiens (human)
DOID:0060684
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • Aliases:
    • ENFL3
    • nocturnal frontal lobe epilepsy 3
Homo sapiens (human)
DOID:0060682
  • autosomal dominant nocturnal frontal lobe epilepsy 1
  • Aliases:
    • ENFL1
    • nocturnal frontal lobe epilepsy 1
Homo sapiens (human)
DOID:0060681
  • autosomal dominant nocturnal frontal lobe epilepsy
  • Aliases:
    • ENFL
Homo sapiens (human)
DOID:0060680
  • pigment dispersion syndrome
  • Aliases:
    • glaucoma-related pigment dispersion syndrome
    • pigment-dispersion type glaucoma
Homo sapiens (human)
DOID:0060679
  • catecholaminergic polymorphic ventricular tachycardia 5
  • Aliases:
    • CVPT5
Homo sapiens (human)
DOID:0060676
  • catecholaminergic polymorphic ventricular tachycardia 2
  • Aliases:
    • CVPT2
Homo sapiens (human)
DOID:0060675
  • catecholaminergic polymorphic ventricular tachycardia 1
  • Aliases:
    • CVPT1
    • arrhythmogenic right ventricular dysplasia 2
Homo sapiens (human)
DOID:0060674
  • catecholaminergic polymorphic ventricular tachycardia
Homo sapiens (human)
DOID:0060673
  • Peters anomaly
Homo sapiens (human)
DOID:0060672
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Homo sapiens (human)
DOID:0060670
  • cerebral cavernous malformation 2
Homo sapiens (human)
DOID:0060669
  • cerebral cavernous malformation
  • Aliases:
    • cavernous angiomatous malformations
    • cerebral capillary malformations
    • familial cavernous angioma
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