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 4051 - 4075 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Homo sapiens (human)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Homo sapiens (human)
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Homo sapiens (human)
DOID:0060732
  • chromosome 9p deletion syndrome
  • Aliases:
    • 9p syndrome
    • Alfi syndrome
    • monosomy 9p syndrome
Homo sapiens (human)
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Homo sapiens (human)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Homo sapiens (human)
DOID:0060728
  • NGLY1-deficiency
  • Aliases:
    • NGLY1-CDDG
    • congenital disorder of deglycosylation
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 1
Homo sapiens (human)
DOID:0060719
  • autosomal recessive congenital ichthyosis 10
  • Aliases:
    • ARCI10
Homo sapiens (human)
DOID:0060718
  • autosomal recessive congenital ichthyosis 9
  • Aliases:
    • ARCI9
Homo sapiens (human)
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Homo sapiens (human)
DOID:0060716
  • autosomal recessive congenital ichthyosis 7
  • Aliases:
    • ARCI7
Homo sapiens (human)
DOID:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
Homo sapiens (human)
DOID:0060714
  • autosomal recessive congenital ichthyosis 5
  • Aliases:
    • ARCI5
    • autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
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:0060712
  • autosomal recessive congenital ichthyosis 4A
  • Aliases:
    • ARCI4A
    • ICR2B
    • ichthyosis congenita IIB
    • lamellar ichthyosis 2
Homo sapiens (human)
DOID:0060711
  • autosomal recessive congenital ichthyosis 3
  • Aliases:
    • ARCI3
    • lamellar ichthyosis 5
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:0060708
  • lymphoproliferative syndrome 2
  • Aliases:
    • CD27 deficiency
    • LPFS2
Homo sapiens (human)
DOID:0060707
  • lymphoproliferative syndrome 1
  • Aliases:
    • LPFS1
Homo sapiens (human)
DOID:0060706
  • X-linked lymphoproliferative syndrome 2
  • Aliases:
    • XIAP deficiency
    • XLP2
Homo sapiens (human)
DOID:0060705
  • X-linked lymphoproliferative syndrome 1
  • Aliases:
    • XLP1
Homo sapiens (human)
DOID:0060704
  • lymphoproliferative syndrome
  • Aliases:
    • Combined immunodeficiency due to ITK deficiency
Homo sapiens (human)
DOID:0060703
  • Muenke Syndrome
  • Aliases:
    • FGFR3-related craniosynostosis
Homo sapiens (human)
DOID:0060702
  • familial hypocalciuric hypercalcemia 3
  • Aliases:
    • FHH type 3
    • HHC3
    • familial hypocalciuric hypercalcemia type 3
    • hypocalciuric hypercalcemia type III
Homo sapiens (human)

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Last updated: August 19, 2024