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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 576 - 600 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060684
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • Aliases:
    • ENFL3
    • nocturnal frontal lobe epilepsy 3
Homo sapiens (human)
DOID:0060685
  • autosomal dominant nocturnal frontal lobe epilepsy 4
  • Aliases:
    • ENFL4
    • nocturnal frontal lobe epilepsy 4
Homo sapiens (human)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Homo sapiens (human)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
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:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Homo sapiens (human)
DOID:0060693
  • Brunner Syndrome
  • Aliases:
    • monoamine oxidase A deficiency
Homo sapiens (human)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Homo sapiens (human)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Homo sapiens (human)
DOID:0060697
  • hyperekplexia 2
  • Aliases:
    • HKPX2
Homo sapiens (human)
DOID:0060698
  • hyperekplexia 3
  • Aliases:
    • HKPX3
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:0060703
  • Muenke Syndrome
  • Aliases:
    • FGFR3-related craniosynostosis
Homo sapiens (human)
DOID:0060704
  • lymphoproliferative syndrome
  • Aliases:
    • Combined immunodeficiency due to ITK deficiency
Homo sapiens (human)
DOID:0060705
  • X-linked lymphoproliferative syndrome 1
  • Aliases:
    • XLP1
Homo sapiens (human)
DOID:0060706
  • X-linked lymphoproliferative syndrome 2
  • Aliases:
    • XIAP deficiency
    • XLP2
Homo sapiens (human)
DOID:0060708
  • lymphoproliferative syndrome 2
  • Aliases:
    • CD27 deficiency
    • LPFS2
Homo sapiens (human)
DOID:0060710
  • autosomal recessive congenital ichthyosis 2
  • Aliases:
    • ARCI2
    • BROCQ congenital ichthyosiform erythroderma nonbullous form
    • NCIE1
    • nonbullous congenital ichthyosiform erythroderma 1
Homo sapiens (human)
DOID:0060712
  • autosomal recessive congenital ichthyosis 4A
  • Aliases:
    • ARCI4A
    • ICR2B
    • ichthyosis congenita IIB
    • lamellar ichthyosis 2
Homo sapiens (human)
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Homo sapiens (human)
DOID:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
Homo sapiens (human)
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Homo sapiens (human)
DOID:0060718
  • autosomal recessive congenital ichthyosis 9
  • Aliases:
    • ARCI9
Homo sapiens (human)
DOID:0060720
  • autosomal recessive congenital ichthyosis 11
  • Aliases:
    • IFAH syndrome
    • IHS
    • autosomal recessive ichthyosis with hypotrichosis
    • hypotrichosis-congenital ichthyosis syndrome
    • ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
    • ichthyosis-follicular atrophoderma-hypotrichosis syndrome
    • ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
    • ichthyosis-hypotrichosis syndrome
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