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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 5951 - 5975 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0110849
  • xeroderma pigmentosum group G
  • Aliases:
    • XP group G
    • XP7
    • XPG
    • xeroderma pigmentosum VII
Homo sapiens (human)
DOID:0110846
  • xeroderma pigmentosum group E
  • Aliases:
    • XP group E
    • XP5
    • XPE
    • xeroderma pigmentosum V
Homo sapiens (human)
DOID:0110847
  • xeroderma pigmentosum variant type
  • Aliases:
    • XPV
    • photosensitivity with defective DNA synthesis
    • xeroderma pigmentosum with normal DNA repair rates
Homo sapiens (human)
DOID:0050427
  • xeroderma pigmentosum
Homo sapiens (human)
DOID:0110850
  • xeroderma pigmentosum group B
  • Aliases:
    • XP group B
    • XPB
    • XPBC
Homo sapiens (human)
DOID:905
  • Zellweger syndrome
  • Aliases:
    • cerebrohepatorenal syndrome
    • congenital iron overload
Homo sapiens (human)
DOID:0080476
  • peroxisome biogenesis disorder 1A
  • Aliases:
    • peroxisome biogenesis disorder 1A (Zellweger)
Homo sapiens (human)
DOID:0050633
  • ocular albinism 1
  • Aliases:
    • Albinism ocular 1
    • ocular albinism
Homo sapiens (human)
DOID:4621
  • holoprosencephaly
  • Aliases:
    • Holoprosencephaly sequence
Homo sapiens (human)
DOID:0110881
  • holoprosencephaly 1
  • Aliases:
    • HPE1
Homo sapiens (human)
DOID:4603
  • epidermolytic hyperkeratosis
  • Aliases:
    • Bullous ichthyosiform erythroderma
    • Epidermolytic palmoplantar hyperkeratosis
    • epidermolytic ichthyosis
Homo sapiens (human)
DOID:1702
  • ichthyosis vulgaris
  • Aliases:
    • Dominant congenital ichthyosiform erythroderma
Homo sapiens (human)
DOID:0060655
  • autosomal recessive congenital ichthyosis
  • Aliases:
    • ARCI
    • lamellar ichthyosis
    • non bullous congenital ichthyosiform erythroderma
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:0060714
  • autosomal recessive congenital ichthyosis 5
  • Aliases:
    • ARCI5
    • autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
Homo sapiens (human)
DOID:0060718
  • autosomal recessive congenital ichthyosis 9
  • Aliases:
    • ARCI9
Homo sapiens (human)
DOID:0060712
  • autosomal recessive congenital ichthyosis 4A
  • Aliases:
    • ARCI4A
    • ICR2B
    • ichthyosis congenita IIB
    • lamellar ichthyosis 2
Homo sapiens (human)
DOID:0060716
  • autosomal recessive congenital ichthyosis 7
  • Aliases:
    • ARCI7
Homo sapiens (human)
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Homo sapiens (human)
DOID:0060719
  • autosomal recessive congenital ichthyosis 10
  • Aliases:
    • ARCI10
Homo sapiens (human)
DOID:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
Homo sapiens (human)
DOID:0060711
  • autosomal recessive congenital ichthyosis 3
  • Aliases:
    • ARCI3
    • lamellar ichthyosis 5
Homo sapiens (human)
DOID:4313
  • epidermolysis bullosa acquisita
  • Aliases:
    • acquired epidermolysis bullosa
Homo sapiens (human)
DOID:4959
  • epidermolysis bullosa dystrophica
  • Aliases:
    • Dystrophic epidermolysis bullosa
Homo sapiens (human)
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)
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Last updated: August 19, 2024